AiPD: Autoinhibited Protein Database

P41221

Gene name	WNT5A
Protein name	Protein Wnt-5a
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7474
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-43 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-43 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P41221

Entry ID	Method	Resolution	Chain	Position	Source
AF-P41221-F1	Predicted				AlphaFoldDB

311 variants for P41221

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000363742 RCV000964936 RCV002504007 CA2459138 rs200914260	5	I>T	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001254609 rs1369701937 RCV001879915 CA353267839	39	V>L	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346840 RCV000169741 rs786204837	69	C>Y	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs786200925 RCV000022696 CA342716 VAR_066623	83	C>S	Autosomal dominant Robinow syndrome 1 DRS1; hypomorphic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA346838 rs786204836 RCV000169740	86	Y>C	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2051315439 RCV001334139	154	C>F	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_083248 rs1553677971 RCV000577882 CA353275502	160	S>C	Autosomal dominant Robinow syndrome 1 DRS1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
RCV001597177 rs1553677967 RCV000577908	163	G>missing	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000147988 rs587784562 CA272818 RCV001850013	163	G>R	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083249	164	C>CGC	DRS1 [UniProt]	Yes	UniProt
CA2459044 rs572796263 RCV002502972 RCV000956107	168	A>T	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000022695 VAR_066629 rs387906663 CA259668	182	C>R	Autosomal dominant Robinow syndrome 1 DRS1; hypomorphic mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000192022 CA347069 rs869312850	182	C>S	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001270765 CA353275044 rs1393089710	183	G>S	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002476613 rs766388444 CA2459014 RCV001350914	212	E>K	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10616477 RCV001597513 rs886058744 RCV002501965	229	T>A	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs763566950 RCV003135973 CA2458907 RCV001323469	375	D>N	Autosomal dominant Robinow syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1053272920 CA74909567	2	K>E		No	ClinGen Ensembl
CA353268192 rs370383438	5	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA353268191 rs200914260	5	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2459139 rs370383438	5	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2459137 rs776543464	6	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353268188 rs1292414238	6	G>R		No	ClinGen TOPMed
CA2459135 rs183555808	7	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2459134 rs554762368	7	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1319138082 CA353268157	11	G>R		No	ClinGen gnomAD
CA353268147 rs1414051938	12	V>A		No	ClinGen gnomAD
CA353268144 rs1400348463	13	A>P		No	ClinGen gnomAD
CA10619237 rs886058746	14	L>S		No	ClinGen Ensembl
CA2459131 rs778287090	15	G>E		No	ClinGen ExAC TOPMed gnomAD
rs867828828 CA74907011	15	G>W		No	ClinGen TOPMed gnomAD
rs1389369896 CA353268110	18	G>A		No	ClinGen TOPMed gnomAD
CA353268100 rs1476385299	20	A>T		No	ClinGen TOPMed gnomAD
rs1242190462 CA353268086	21	M>L		No	ClinGen TOPMed gnomAD
rs748871825 CA2459129	21	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1242190462 CA353268088	21	M>V		No	ClinGen TOPMed gnomAD
rs1399954454 CA353268051	24	K>Q		No	ClinGen TOPMed
CA74907002 rs908288616	26	F>S		No	ClinGen TOPMed
rs781650629 CA2459128	27	L>I		No	ClinGen ExAC
rs149311661 CA74906997	27	L>P		No	ClinGen 1000Genomes gnomAD
CA74906994 rs781668590	28	V>A		No	ClinGen Ensembl
CA353267952 rs1340579712	30	L>S		No	ClinGen TOPMed
CA2459127 rs371157119	31	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213316012 CA353267921	32	I>M		No	ClinGen gnomAD
rs752083941 CA2459126	32	I>V		No	ClinGen ExAC TOPMed gnomAD
CA353267875 RCV000595735 rs1553679404	35	S>F		No	ClinGen ClinVar Ensembl dbSNP
CA353267872 rs1270786128	36	F>I		No	ClinGen gnomAD
rs374082538 CA353267862	36	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2459123 rs190451046 RCV000900737	37	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA353267847 rs1435625630	38	Q>H		No	ClinGen gnomAD
rs1369701937 CA353267842	39	V>I		No	ClinGen TOPMed gnomAD
CA353267817 rs1411528153	41	I>M		No	ClinGen gnomAD
CA2459122 rs765217843	41	I>T		No	ClinGen ExAC TOPMed gnomAD
CA74906949 rs1025253935	44	N>I		No	ClinGen TOPMed gnomAD
rs186124369 CA2459121 CA353267797	44	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1025253935 CA353267798	44	N>S		No	ClinGen TOPMed gnomAD
rs1439009595 CA353267784	46	W>*		No	ClinGen TOPMed
CA2459100 rs369165725	48	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA353267610 rs1289051164	51	M>V		No	ClinGen gnomAD
rs767356554 CA2459099	53	N>K		No	ClinGen ExAC gnomAD
rs761851847 CA2459098	55	V>G		No	ClinGen ExAC TOPMed
rs759185001 CA2459097	57	M>T		No	ClinGen ExAC gnomAD
CA2459096 rs763684509	60	V>A		No	ClinGen ExAC gnomAD
CA74906484 rs1033182214	60	V>I		No	ClinGen TOPMed gnomAD
CA353267522 rs1409168290	63	I>M		No	ClinGen gnomAD
CA2459093 rs769500757	63	I>V		No	ClinGen ExAC gnomAD
rs745505762 CA2459092	65	A>S		No	ClinGen ExAC gnomAD
rs902221321 CA74906469	66	Q>*		No	ClinGen Ensembl
rs1575402691 CA353267502	67	P>T		No	ClinGen Ensembl
rs748715879 CA2459089	72	L>V		No	ClinGen ExAC gnomAD
CA353267457 rs1218199102	74	G>R		No	ClinGen gnomAD
rs1317822537 CA353267425	79	Q>E		No	ClinGen gnomAD
rs373494821 CA2459087	80	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	82	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	83	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749398374 CA2459086	84	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1304024029 CA353267357	85	L>F		No	ClinGen gnomAD
rs780270891 CA74906452	87	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs780270891 CA2459085	87	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA353267278 rs1214041901	90	M>V		No	ClinGen TOPMed
rs750646727 CA2459083	93	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1358232825 CA353267150	96	G>V		No	ClinGen gnomAD
CA2459079 rs763870268	97	A>T		No	ClinGen ExAC gnomAD
CA353267118 rs1194784391	98	K>N		No	ClinGen gnomAD
CA2459077 rs538890462	99	T>I		No	ClinGen ExAC gnomAD
CA2459076 rs527941562	100	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2459075 rs375233428	102	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751543743 CA2459073	105	Q>L		No	ClinGen ExAC gnomAD
rs751543743 CA2459074	105	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	109	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2459072 rs371892633	109	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA353267023 rs1280851148	110	H>L		No	ClinGen gnomAD
rs1349752707 CA353267026	110	H>Y		No	ClinGen gnomAD
TCGA novel	111	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157131307 CA353266989	115	C>G		No	ClinGen TOPMed
rs774776699 CA2459071	119	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769103194 CA353266950	120	N>K		No	ClinGen ExAC TOPMed gnomAD
CA74906407 rs984257997	120	N>S		No	ClinGen Ensembl
CA74906402 rs1026265548	121	T>I		No	ClinGen TOPMed
CA2459069 rs749783441	122	S>P		No	ClinGen ExAC gnomAD
CA2459068 rs780324252	123	V>I		No	ClinGen ExAC gnomAD
CA353266903 rs1377642864	128	M>T		No	ClinGen gnomAD
CA353266893 rs1399911942	129	Q>H		No	ClinGen TOPMed
CA2459067 rs769955372	129	Q>L		No	ClinGen ExAC
rs1300391603 CA353275859	133	R>H		No	ClinGen TOPMed gnomAD
rs1300391603 CA353275857	133	R>L		No	ClinGen TOPMed gnomAD
rs550768554 CA353275836	135	T>K		No	ClinGen 1000Genomes gnomAD
CA74922350 rs550768554	135	T>M		No	ClinGen 1000Genomes gnomAD
CA2459053 rs774630162	135	T>S		No	ClinGen ExAC TOPMed
CA353275801 rs1162882250	138	T>I		No	ClinGen gnomAD
rs1435836716 CA353275781	140	A>E		No	ClinGen gnomAD
rs1180776171 CA353275785	140	A>T		No	ClinGen gnomAD
rs1439785154 CA353275776	141	V>L		No	ClinGen TOPMed
CA353275762 rs998033323	143	A>S		No	ClinGen TOPMed gnomAD
rs998033323 CA74922339 RCV000729122	143	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1326363656 CA353275746	145	G>V		No	ClinGen gnomAD
rs1335027961 CA353275704	149	A>S		No	ClinGen gnomAD
rs1335027961 CA353275706	149	A>T		No	ClinGen gnomAD
CA353275687 rs1168292086	150	M>I		No	ClinGen TOPMed
CA353275699 rs750679240	150	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2459050 rs750679240	150	M>V		No	ClinGen ExAC TOPMed gnomAD
CA353275667 rs1236488118	152	R>W		No	ClinGen gnomAD
rs1309688159 CA353275647	153	A>V		No	ClinGen gnomAD
rs2051314733 RCV001323406	155	R>missing		No	ClinVar dbSNP
CA353275622 rs1052997621	155	R>C		No	ClinGen TOPMed gnomAD
rs1052997621 CA74922276	155	R>G		No	ClinGen TOPMed gnomAD
CA74922267 rs934590152	155	R>H		No	ClinGen gnomAD
rs1403387925 CA353275605	156	E>Q		No	ClinGen TOPMed
rs1395367007 CA353275544	158	E>D		No	ClinGen gnomAD
rs776770401 CA2459048	161	T>N		No	ClinGen ExAC TOPMed gnomAD
CA353275379 rs1559553986 RCV000733923	166	R>C		No	ClinGen ClinVar Ensembl dbSNP
CA2459046 rs747232175	166	R>H		No	ClinGen ExAC gnomAD
rs1182266890 CA353275372	167	A>T		No	ClinGen gnomAD
rs778761167 CA2459043	168	A>G		No	ClinGen ExAC TOPMed gnomAD
CA74922220 rs572796263	168	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001316247 CA2459042 rs778761167	168	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754486525 CA2459041	169	R>C		No	ClinGen ExAC gnomAD
rs1575398481 CA353275325	169	R>L		No	ClinGen Ensembl
CA353275298 rs1352397840	171	K>E		No	ClinGen gnomAD
rs1352397840 CA353275302	171	K>Q		No	ClinGen gnomAD
TCGA novel	174	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753406752 CA2459040	174	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA353275244 rs1241355638	174	P>S		No	ClinGen gnomAD
rs755766054 CA2459038	175	R>L		No	ClinGen ExAC gnomAD
CA353275180 rs1231823028	177	W>S		No	ClinGen TOPMed
rs1272834770 CA353275148	178	L>P		No	ClinGen TOPMed
rs765913129 CA2459033	181	G>S		No	ClinGen ExAC gnomAD
rs771010789 CA2459030	185	N>S		No	ClinGen ExAC TOPMed gnomAD
CA353274988 rs1575398385	186	I>V		No	ClinGen Ensembl
CA2459029 rs747226594	187	D>G		No	ClinGen ExAC gnomAD
rs1454706587 CA353274954	187	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA353274945 rs1454706587	187	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	188	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2459028 rs200263219	190	Y>*		No	ClinGen ExAC gnomAD
CA353274855 rs1448321572	191	R>C		No	ClinGen TOPMed gnomAD
rs771864079 CA74922092	191	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2459027 rs771864079	191	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2459026 rs747867665	193	A>T		No	ClinGen ExAC gnomAD
CA353274813 rs1347583578	193	A>V		No	ClinGen gnomAD
CA2459025 rs754960119	194	K>E		No	ClinGen ExAC gnomAD
CA2459024 rs754960119	194	K>Q		No	ClinGen ExAC gnomAD
rs181787192 CA353274741	199	A>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs181787192 CA74922029	199	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA74922026 rs988058834	200	R>G		No	ClinGen TOPMed
CA2459021 rs750057475	200	R>H		No	ClinGen ExAC gnomAD
rs750057475 CA353274726	200	R>L		No	ClinGen ExAC gnomAD
rs1414414180 CA353274705	203	E>Q		No	ClinGen gnomAD
rs866738848 CA74922000	204	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2459018 rs753171819	205	I>T		No	ClinGen ExAC TOPMed gnomAD
rs757182809 CA74921966	206	H>Q		No	ClinGen Ensembl
TCGA novel	206	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760160092 CA2459016	207	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777155530 CA2459015	208	K>E		No	ClinGen ExAC TOPMed gnomAD
rs760747132 CA2459013	212	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1484487400 CA353274645	212	E>G		No	ClinGen gnomAD
CA2459012 RCV001309038 rs773308486	214	A>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1293009430 CA353274632	214	A>T		No	ClinGen TOPMed
rs1272969340 CA353274625	215	R>H		No	ClinGen gnomAD
rs1213352508 CA353274608	216	I>M		No	ClinGen gnomAD
CA353274604 rs1341494143	217	L>F		No	ClinGen gnomAD
CA74921861 rs963662325	218	M>I		No	ClinGen TOPMed
CA353274595 rs1232898551	218	M>V		No	ClinGen gnomAD
CA353274534 rs1448534007	222	N>S		No	ClinGen gnomAD
CA2459010 rs762002827	223	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2458984 rs769829279	229	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2458980 rs376640377	231	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs770524527 CA2458981	231	Y>H		No	ClinGen ExAC gnomAD
CA2458979 rs777506252	232	N>S		No	ClinGen ExAC TOPMed gnomAD
rs755298105 CA2458978	234	A>G		No	ClinGen ExAC gnomAD
TCGA novel	235	D>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	235	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302532308 CA353272979	239	K>R		No	ClinGen gnomAD
TCGA novel	240	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74918116 rs181181287	241	H>R		No	ClinGen 1000Genomes
TCGA novel	243	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2458976 rs780265576	248	S>G		No	ClinGen ExAC gnomAD
CA2458972 rs761827056	255	Q>E		No	ClinGen ExAC gnomAD
rs1269552696 CA353272772	259	F>L		No	ClinGen gnomAD
rs201567461 CA2458970	260	R>C		No	ClinGen ExAC gnomAD
rs1485651707 RCV000733943 CA353272755	260	R>L		No	ClinGen ClinVar dbSNP gnomAD
rs1575394586 CA353272727	262	V>G		No	ClinGen Ensembl
CA353272684 rs1354084512	265	A>T		No	ClinGen gnomAD
rs373379669 CA2458967	265	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350037873 CA353272635	268	E>Q		No	ClinGen gnomAD
CA2458964 rs770577961	271	D>G		No	ClinGen ExAC gnomAD
rs1359294973 CA353272574	271	D>N		No	ClinGen gnomAD
rs377043203 CA2458963	272	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2458961 rs771812000	273	A>V		No	ClinGen ExAC gnomAD
CA353272502 rs746392030	275	A>G		No	ClinGen ExAC gnomAD
CA2458958 rs546706293	275	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2458957 rs746392030	275	A>V		No	ClinGen ExAC gnomAD
CA353272493 rs1182422577	276	M>L		No	ClinGen gnomAD
rs369954366 CA74917898	277	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs866667950 CA74917906	277	R>W		No	ClinGen gnomAD
rs1488780337 CA353272437	279	N>S		No	ClinGen gnomAD
rs886042717 RCV000381699 CA10604601	280	S>N		No	ClinGen ClinVar Ensembl dbSNP
CA2458954 rs751696945	281	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2458955 rs533153165	281	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA353272388 rs1484178482	282	G>V		No	ClinGen TOPMed gnomAD
rs1256476123 CA353272375	283	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375403509 CA353272360	284	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1305199053 CA353272342	285	V>I		No	ClinGen gnomAD
rs758690185 CA2458952	286	Q>R		No	ClinGen ExAC
rs1297105774 CA353272307	287	V>L		No	ClinGen gnomAD
rs1559551727 CA353272285	288	N>S		No	ClinGen Ensembl
CA353272286 rs1559551727	288	N>T		No	ClinGen Ensembl
CA353272266 rs1354491206	289	S>N		No	ClinGen gnomAD
TCGA novel	290	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2458950 rs765101926	290	R>H		No	ClinGen ExAC gnomAD
CA353272254 rs765101926	290	R>L		No	ClinGen ExAC gnomAD
CA353272244 rs1413364471	292	N>H		No	ClinGen gnomAD
CA353272239 rs1404834929	292	N>S		No	ClinGen gnomAD
CA2458949 rs759194223	293	S>L		No	ClinGen ExAC TOPMed gnomAD
CA353272220 rs1277424205	295	T>I		No	ClinGen TOPMed
CA74917844 rs900039147	296	T>A		No	ClinGen Ensembl
rs760675240 CA2458946	296	T>I		No	ClinGen ExAC gnomAD
rs772896188 CA353272215	297	Q>*		No	ClinGen ExAC gnomAD
rs772896188 CA2458945	297	Q>E		No	ClinGen ExAC gnomAD
rs771445451 CA2458944	298	D>N		No	ClinGen ExAC TOPMed gnomAD
rs747860258 CA2458943	300	V>F		No	ClinGen ExAC
CA2458942 rs773819361	301	Y>F		No	ClinGen ExAC gnomAD
rs770199302 CA2458941	302	I>V		No	ClinGen ExAC gnomAD
CA353272171 rs1575394294	303	D>A		No	ClinGen Ensembl
rs781527130 CA74917736	303	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2458939 rs781527130	303	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2458938 rs757813200	304	P>H		No	ClinGen ExAC gnomAD
CA353272153 rs757813200	304	P>L		No	ClinGen ExAC gnomAD
TCGA novel	305	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747485846 CA353272096	309	C>G		No	ClinGen ExAC TOPMed gnomAD
rs747485846 CA2458937	309	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2458935 rs758357805	310	V>A		No	ClinGen ExAC TOPMed gnomAD
CA353272076 rs758357805	310	V>G		No	ClinGen ExAC TOPMed gnomAD
CA2458936 rs777938109	310	V>L		No	ClinGen ExAC gnomAD
rs1189964563 CA353272070	311	R>C		No	ClinGen TOPMed
rs752974227 CA2458934	311	R>L		No	ClinGen ExAC TOPMed gnomAD
rs752974227 CA353272067	311	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1248491152 CA353272053	312	N>K		No	ClinGen TOPMed gnomAD
CA353272058 rs1469870275	312	N>S		No	ClinGen TOPMed
rs369701725 CA2458933	313	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA74917621 rs931674113	315	T>N		No	ClinGen TOPMed
rs1575394230 CA353272021	315	T>P		No	ClinGen Ensembl
rs755247138 CA2458932	317	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353271979 rs1575394201	318	L>R		No	ClinGen Ensembl
CA74917600 rs922958622	320	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	321	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA74917594 rs946840827	321	Q>R		No	ClinGen TOPMed gnomAD
CA2458929 rs373282952	326	N>D		No	ClinGen ESP ExAC gnomAD
CA353271880 rs1368827765	326	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2458928 rs750281702	327	K>R		No	ClinGen ExAC gnomAD
CA2458927 rs767068436	328	T>A		No	ClinGen ExAC gnomAD
CA2458926 rs201975128	328	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2458925 rs375700896	329	S>L		No	ClinGen ESP ExAC gnomAD
CA353271839 rs1263066189	329	S>T		No	ClinGen TOPMed
rs2051221341 RCV001325372	331	G>C		No	ClinVar dbSNP
rs768254997 CA353271791	332	M>L		No	ClinGen ExAC gnomAD
rs768254997 CA2458924	332	M>V		No	ClinGen ExAC gnomAD
rs1356686397 CA353271689	334	G>C		No	ClinGen gnomAD
CA353271668 rs1575394098	335	C>G		No	ClinGen Ensembl
rs771248572 CA2458921	336	E>G		No	ClinGen ExAC gnomAD
CA2458922 rs542775163	336	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1370251695 CA353271505	341	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747534689 CA2458920	342	R>G		No	ClinGen ExAC gnomAD
TCGA novel	343	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353271379 rs1575394050	345	D>A		No	ClinGen Ensembl
CA353271381 rs1407280678	345	D>H		No	ClinGen TOPMed gnomAD
rs1407280678 CA353271382	345	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs573691468 CA2458919	346	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1182836998 CA353271335	347	F>L		No	ClinGen TOPMed
CA353271285 rs1575394028	349	T>P		No	ClinGen Ensembl
CA2458916 rs779036055	350	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1057524412 RCV000434129 CA16604505	351	Q>L		No	ClinGen ClinVar dbSNP gnomAD
rs1057524412 CA353271209	351	Q>R		No	ClinGen gnomAD
rs755298573 CA2458915	352	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1575393995 CA353271149	354	R>P		No	ClinGen Ensembl
CA353271129 rs1467578208	356	H>Y		No	ClinGen TOPMed
rs780019128 CA353271095	358	K>M		No	ClinGen ExAC TOPMed gnomAD
CA2458913 rs780019128	358	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	362	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353271002 rs1260562227	364	Y>C		No	ClinGen gnomAD
rs1410287718 CA353270991	365	V>I		No	ClinGen TOPMed
CA2458911 rs553825428	366	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs767422181 CA2458910	370	C>R		No	ClinGen ExAC gnomAD
CA2458909 rs761800959	371	T>A		No	ClinGen ExAC TOPMed gnomAD
CA74917450 rs984934479	371	T>M		No	ClinGen TOPMed gnomAD
rs762481849 CA353270883	372	E>D		No	ClinGen gnomAD
rs1346821075 CA353270862	374	V>M		No	ClinGen TOPMed
TCGA novel	375	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775072555 CA2458906	376	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1344347590 CA353270822	376	Q>R		No	ClinGen gnomAD
rs771295790 CA2458904	377	F>L		No	ClinGen ExAC gnomAD
rs1362145507 CA353270754	380	K>R		No	ClinGen gnomAD

1 associated diseases with P41221

[MIM: 180700]: Robinow syndrome, autosomal dominant 1 (DRS1)

A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases. {ECO:0000269|PubMed:19918918, ECO:0000269|PubMed:29276006}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases. {ECO:0000269|PubMed:19918918, ECO:0000269|PubMed:29276006}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for P41221

Type	Name	Position	InterPro Accession
conserved_site	Wnt protein, conserved site	238 - 247	IPR018161

Functions

		Description
EC Number
Subcellular Localization	Secreted, extracellular space, extracellular matrix Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
endocytic vesicle membrane	The lipid bilayer surrounding an endocytic vesicle.
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi lumen	The volume enclosed by the membranes of any cisterna or subcompartment of the Golgi apparatus, including the cis- and trans-Golgi networks.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse	The part of a synapse that is part of the post-synaptic cell.

7 GO annotations of molecular function

Name	Definition
chemoattractant activity involved in axon guidance	Any chemoattractant activity that is involved in axon guidance.
cytokine activity	The activity of a soluble extracellular gene product that interacts with a receptor to effect a change in the activity of the receptor to control the survival, growth, differentiation and effector function of tissues and cells.
frizzled binding	Binding to a frizzled (fz) receptor.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
protein domain specific binding	Binding to a specific domain of a protein.
receptor ligand activity	The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands).
receptor tyrosine kinase-like orphan receptor binding	Binding to a receptor tyrosine kinase-like orphan receptor (Ror).

152 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
activation of protein kinase B activity	Any process that initiates the activity of the inactive enzyme protein kinase B.
anterior/posterior axis specification, embryo	The specification of the anterior/posterior axis of the embryo by the products of genes expressed maternally and genes expressed in the zygote.
atrial septum development	The progression of the atrial septum over time, from its initial formation to the mature structure.
axon extension involved in axon guidance	The long distance growth of a single cell process, that is involved in the migration of an axon growth cone, where the migration is directed to a specific target site by a combination of attractive and repulsive cues.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
cartilage development	The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
cellular response to interferon-gamma	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
cervix development	The reproductive developmental process whose specific outcome is the progression of the cervix over time, from its formation to the mature structure.
chemoattraction of serotonergic neuron axon	The process in which a serotonergic neuron growth cone is directed to a specific target site in response to an attractive chemical signal.
chemorepulsion of dopaminergic neuron axon	The process in which a dopaminergic neuron growth cone is directed to a specific target site in response to a repulsive chemical cue.
cochlea morphogenesis	The process in which the cochlea is generated and organized.
convergent extension involved in axis elongation	The morphogenetic process in which an epithelium narrows along one axis and lengthens in a perpendicular axis contributing to the lengthening of the axis of an organism.
convergent extension involved in organogenesis	The morphogenetic process in which an epithelium narrows along one axis and lengthens in a perpendicular axis contribution to the shaping of an organ.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
embryonic skeletal system development	The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure.
epithelial cell migration	The orderly movement of an epithelial cell from one site to another, often during the development of a multicellular organism.
epithelial cell proliferation involved in mammary gland duct elongation	The multiplication or reproduction of mammary gland branch epithelial cells, resulting in the elongation of the branch. The mammary gland branch differs from the bud in that it is not the initial curved portion of the outgrowth.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
establishment of epithelial cell apical/basal polarity	The specification and formation of the apicobasal polarity of an epithelial cell.
establishment of planar polarity	Coordinated organization of groups of cells in the plane of an epithelium, such that they all orient to similar coordinates.
excitatory synapse assembly	The aggregation, arrangement and bonding together of a set of components to form an excitatory synapse.
face development	The biological process whose specific outcome is the progression of a face from an initial condition to its mature state. The face is the ventral division of the head.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
genitalia development	The process whose specific outcome is the progression of the genitalia over time, from its formation to the mature structure.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
hematopoietic stem cell proliferation	The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop.
hindgut morphogenesis	The process in which the anatomical structures of the hindgut are generated and organized.
hypophysis morphogenesis	The process in which the anatomical structures of the hypophysis are generated and organized. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands.
inhibitory synapse assembly	The aggregation, arrangement and bonding together of a set of components to form an inhibitory synapse.
JNK cascade	An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.
keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
lateral sprouting involved in mammary gland duct morphogenesis	The process in which a branch forms along the side of a mammary duct.
lens development in camera-type eye	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
lung development	The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
mammary gland branching involved in thelarche	The process in which the branching structure of the mammary gland duct is generated and organized during the period of sexual maturity in mammals. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
meiotic nuclear division	One of the two nuclear divisions that occur as part of the meiotic cell cycle.
melanocyte proliferation	The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance.
mesenchymal cell proliferation	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
mesenchymal-epithelial cell signaling	Any process that mediates the transfer of information from a mesenchymal cell to an epithelial cell where it is received and interpreted.
mesodermal to mesenchymal transition involved in gastrulation	The epithelial to mesenchymal transition process in which a mesodermal cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell as part of the process of gastrulation.
midgut development	The process whose specific outcome is the progression of the midgut over time, from its formation to the mature structure. The midgut is the middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of axon extension involved in axon guidance	Any process that stops, prevents, or reduces the frequency, rate or extent of axon extension involved in axon guidance.
negative regulation of BMP signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell proliferation in midbrain	Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation in midbrain.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of epithelial cell proliferation	Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of fibroblast growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity.
negative regulation of melanin biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of melanin.
negative regulation of mesenchymal cell proliferation	Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
negative regulation of prostatic bud formation	Any process that decreases the rate, frequency, or extent of prostatic bud formation, the morphogenetic process in which a region of the fetal urogenital sinus epithelium is specified to become the prostate, resulting in prostate bud outgrowth.
negative regulation of synapse assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
non-canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via effectors other than beta-catenin.
non-canonical Wnt signaling pathway via JNK cascade	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, where the signal is passed on via the JNK cascade.
notochord morphogenesis	The process in which the anatomical structures of the notochord are generated and organized. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column.
olfactory bulb interneuron development	The process whose specific outcome is the progression of an interneuron residing in the olfactory bulb, from its initial commitment, to the fully functional differentiated cell.
optic cup formation involved in camera-type eye development	The developmental process pertaining to the initial formation of the optic cup, a two-walled vesicle formed from the optic vesicle.
paraxial mesoderm formation	The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
planar cell polarity pathway involved in axis elongation	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal to modulate cytoskeletal elements and control cell polarity that contributes to axis elongation.
planar cell polarity pathway involved in axon guidance	Any Wnt signaling pathway, planar cell polarity pathway that is involved in axon guidance.
planar cell polarity pathway involved in cardiac muscle tissue morphogenesis	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the cardiac muscle tissue.
planar cell polarity pathway involved in cardiac right atrium morphogenesis	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the cardiac right atrium.
planar cell polarity pathway involved in gastrula mediolateral intercalation	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) contributing to the interdigitation of cells along the mediolateral axis during gastrulation.
planar cell polarity pathway involved in midbrain dopaminergic neuron differentiation	Any Wnt signaling pathway, planar cell polarity pathway that is involved in midbrain dopaminergic neuron differentiation.
planar cell polarity pathway involved in neural tube closure	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors that modulates the establishment of planar polarity contributing to neural tube closure.
planar cell polarity pathway involved in outflow tract morphogenesis	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the outflow tract.
planar cell polarity pathway involved in pericardium morphogenesis	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the pericardium.
planar cell polarity pathway involved in ventricular septum morphogenesis	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity that contributes to the shaping of the ventricular septum.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of cartilage development	Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
positive regulation of cell-cell adhesion mediated by cadherin	Any process that activates or increases the frequency, rate or extent of cell-cell adhesion mediated by cadherin.
positive regulation of chemokine production	Any process that activates or increases the frequency, rate, or extent of chemokine production.
positive regulation of cytokine production involved in immune response	Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of endocytosis	Any process that activates or increases the frequency, rate or extent of endocytosis.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of fibroblast proliferation	Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency or extent of canonical Wnt signaling pathway that positively regulates heart induction. Canonical Wnt signaling pathway involved in heart induction is the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of hematopoietic stem cell proliferation	Any process that activates or increases the frequency, rate or extent of hematopoietic stem cell proliferation.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
positive regulation of interleukin-1 beta production	Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.
positive regulation of interleukin-6 production	Any process that activates or increases the frequency, rate, or extent of interleukin-6 production.
positive regulation of interleukin-8 production	Any process that activates or increases the frequency, rate, or extent of interleukin-8 production.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of macrophage activation	Any process that stimulates, induces or increases the rate of macrophage activation.
positive regulation of macrophage cytokine production	Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.
positive regulation of meiotic nuclear division	Any process that activates or increases the frequency, rate or extent of meiosis.
positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of neuron death	Any process that activates or increases the frequency, rate or extent of neuron death.
positive regulation of neuron projection arborization	Any process that activates or increases the frequency, rate or extent of the process in which the anatomical structures of a neuron projection are generated and organized into branches.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
positive regulation of non-canonical Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of non-canonical Wnt-activated signaling pathway.
positive regulation of ossification	Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of peptidyl-threonine phosphorylation	Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of protein kinase C activity	Any process that activates or increases the frequency, rate or extent of protein kinase C activity.
positive regulation of protein kinase C signaling	Any process that increases the frequency, rate, or extent of a series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound.
positive regulation of protein localization to synapse	Any process that activates or increases the frequency, rate or extent of protein localization to synapse.
positive regulation of response to cytokine stimulus	Any process that increases the rate, frequency, or extent of a response to cytokine stimulus.
positive regulation of T cell chemotaxis	Any process that increases the rate, frequency or extent of T cell chemotaxis. T cell chemotaxis is the directed movement of a T cell in response to an external stimulus.
positive regulation of thymocyte apoptotic process	Any process that activates or increases the frequency, rate or extent of thymocyte death by apoptotic process.
positive regulation of timing of anagen	Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
positive regulation of type I interferon-mediated signaling pathway	Any process that increases the rate, frequency or extent of a type I interferon-mediated signaling pathway.
post-anal tail morphogenesis	The process in which a post-anal tail is generated and organized. A post-anal tail is a muscular region of the body that extends posterior to the anus. The post-anal tail may aid locomotion and balance.
postsynapse assembly	The aggregation, arrangement and bonding together of a set of components to form a postsynapse.
presynapse assembly	The aggregation, arrangement and bonding together of a set of components to form a presynapse.
primary heart field specification	The process that results in the delineation of a specific region of the lateral mesoderm into the area which will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle.
primitive streak formation	The developmental process pertaining to the initial formation of the primitive streak from unspecified parts. The primitive streak is a ridge of cells running along the midline of the embryo where the mesoderm ingresses. It defines the anterior-posterior axis.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of branching involved in mammary gland duct morphogenesis	Any process that modulates the rate, frequency, or extent of branching involved in mammary gland duct morphogenesis.
regulation of I-kappaB kinase/NF-kappaB signaling	Any process that modulates I-kappaB kinase/NF-kappaB signaling.
regulation of inflammatory response	Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents.
regulation of postsynapse organization	Any process that modulates the physical form of a postsynapse.
regulation of postsynaptic cytosolic calcium ion concentration	Any process that regulates the concentration of calcium in the postsynaptic cytosol.
regulation of synapse organization	Any process that modulates the physical form of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell).
response to organic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.
secondary heart field specification	The process that results in the delineation of a specific region of the lateral mesoderm into the area which will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract).
secondary palate development	The biological process whose specific outcome is the progression of the secondary palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The secondary palate is the part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.
somitogenesis	The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.
thymocyte apoptotic process	Any apoptotic process in a thymocyte, an immature T cell located in the thymus.
type B pancreatic cell development	The process whose specific outcome is the progression of a type B pancreatic cell over time, from its formation to the mature structure. A type B pancreatic cell is a cell located towards center of the islets of Langerhans that secretes insulin.
urinary bladder development	The process whose specific outcome is the progression of the urinary bladder over time, from its formation to the mature structure. The urinary bladder is an elastic, muscular sac situated in the anterior part of the pelvic cavity in which urine collects before excretion.
uterus development	The reproductive developmental process whose specific outcome is the progression of the uterus over time, from its formation to the mature structure.
vagina development	The reproductive developmental process whose specific outcome is the progression of the vagina over time, from its formation to the mature structure.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.
Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	Any Wnt signaling pathway that is involved in midbrain dopaminergic neuron differentiation.
Wnt signaling pathway, calcium modulating pathway	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors leads to an increase in intracellular calcium and activation of protein kinase C (PKC).
Wnt signaling pathway, planar cell polarity pathway	The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P22725	Wnt5a	Protein Wnt-5a	Mus musculus (Mouse)	PR
Q9QXQ7	Wnt5a	Protein Wnt-5a	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MKKSIGILSP	GVALGMAGSA	MSSKFFLVAL	AIFFSFAQVV	IEANSWWSLG	MNNPVQMSEV
70	80	90	100	110	120
YIIGAQPLCS	QLAGLSQGQK	KLCHLYQDHM	QYIGEGAKTG	IKECQYQFRH	RRWNCSTVDN
130	140	150	160	170	180
TSVFGRVMQI	GSRETAFTYA	VSAAGVVNAM	SRACREGELS	TCGCSRAARP	KDLPRDWLWG
190	200	210	220	230	240
GCGDNIDYGY	RFAKEFVDAR	ERERIHAKGS	YESARILMNL	HNNEAGRRTV	YNLADVACKC
250	260	270	280	290	300
HGVSGSCSLK	TCWLQLADFR	KVGDALKEKY	DSAAAMRLNS	RGKLVQVNSR	FNSPTTQDLV
310	320	330	340	350	360
YIDPSPDYCV	RNESTGSLGT	QGRLCNKTSE	GMDGCELMCC	GRGYDQFKTV	QTERCHCKFH
370
WCCYVKCKKC	TEIVDQFVCK