AiPD: Autoinhibited Protein Database

Q14332

Gene name	FZD2
Protein name	Frizzled-2
Names	Fz-2, hFz2, FzE2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2535
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

122-219 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

122-219 (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

6 structures for Q14332

Entry ID	Method	Resolution	Chain	Position	Source
6C0B	X-ray	250 A	B	34-156	PDB
7N95	EM	410 A	B	35-155	PDB
7N97	EM	510 A	B	35-155	PDB
7N9S	EM	510 A	B	35-155	PDB
7X8P	X-ray	224 A	A/D	34-159	PDB
AF-Q14332-F1	Predicted				AlphaFoldDB

353 variants for Q14332

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000577910 rs1555657045 RCV002529036 CA399797946	377	W>*	Autosomal dominant Robinow syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA8604757 RCV000678664 rs758351214 RCV002536313	413	R>Q	Keratoconus [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA399798728 rs1223920489 VAR_083244 RCV001353073 RCV000577904	434	G>S	Autosomal dominant Robinow syndrome 2 Autosomal dominant Robinow syndrome 1 probable disease-associated variant found in a patient with features of Robinow syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA399798732 rs1555657073 RCV000577887 VAR_081993	434	G>V	Autosomal dominant Robinow syndrome 3 OMOD2; also found in a patient with features of Robinow syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000577879 rs1555657074 CA658658623	434	G>V	Autosomal dominant Robinow syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_081994	547	S>del	OMOD2 [UniProt]	Yes	UniProt
VAR_081995	548	W>del	OMOD2; decreased Wnt signaling [UniProt]	Yes	UniProt
TCGA novel	3	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413946017 CA399789215	5	S>R		No	ClinGen TOPMed
TCGA novel	7	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391088820 CA399789254	8	P>T		No	ClinGen gnomAD
rs1457585218 CA399789275	9	R>C		No	ClinGen TOPMed gnomAD
rs540777044 CA8604592	9	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA290947352 rs904819812	10	L>V		No	ClinGen TOPMed
RCV000963514 rs753676516	11	L>MP		No	ClinVar dbSNP
rs199790761 CA8604597	12	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8604598 rs150027138 RCV000963515	13	P>L		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA399789475 rs1268657066	18	P>L		No	ClinGen gnomAD
rs1568104858 CA399789473	18	P>S		No	ClinGen Ensembl
rs1196775603 CA399789518	19	A>V		No	ClinGen gnomAD
rs147715817 RCV000887091 CA8604607 CA8604606	21	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs1409538143 CA399789548	21	G>V		No	ClinGen gnomAD
rs767295801 CA8604608	22	P>L		No	ClinGen ExAC gnomAD
CA399789594 rs1598688431	23	A>S		No	ClinGen Ensembl
CA8604610 rs749968550	25	F>L		No	ClinGen ExAC gnomAD
rs779506925 CA8604611	26	H>D		No	ClinGen ExAC gnomAD
CA8604612 rs748988013	26	H>R		No	ClinGen ExAC
CA399789695 rs1235513068	27	G>E		No	ClinGen gnomAD
rs754611548 CA8604613 CA8604614	27	G>R		No	ClinGen ExAC TOPMed gnomAD
CA399789751 rs1365650986	29	K>N		No	ClinGen TOPMed
rs1007509516 CA290947460	31	I>L		No	ClinGen TOPMed
rs1286034359 CA399789786	31	I>M		No	ClinGen gnomAD
rs1315569415 CA399789793	32	S>T		No	ClinGen gnomAD
CA290947468 rs1017947835	33	I>M		No	ClinGen TOPMed
CA8604615 rs747271499	36	H>L		No	ClinGen ExAC TOPMed gnomAD
CA399789882 rs747271499	36	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1159420624 CA399789904	37	G>C		No	ClinGen TOPMed
CA8604618 rs142583858	41	P>R		No	ClinGen ESP ExAC TOPMed
rs776956114 CA8604617	41	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1483406071 CA399790052	43	S>A		No	ClinGen gnomAD
TCGA novel	45	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399790290 rs1367854819	53	N>S		No	ClinGen gnomAD
CA399790289 rs1367854819	53	N>T		No	ClinGen gnomAD
CA290947517 rs909657426	54	Q>R		No	ClinGen gnomAD
CA290947520 rs1026329445	55	T>A		No	ClinGen TOPMed gnomAD
CA8604624 rs761463887	60	L>F		No	ClinGen ExAC gnomAD
CA8604625 COSM384909 rs767518136	64	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8604626 rs750365738	66	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	73	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244482185 CA399790972	82	V>L		No	ClinGen gnomAD
rs1277393888 CA399791003	83	Q>P		No	ClinGen gnomAD
CA290947549 rs984920143	84	C>Y		No	ClinGen TOPMed
rs1274579640 COSM1750079 CA399791065	85	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8604630 rs754629987	86	P>S		No	ClinGen ExAC gnomAD
CA399791343 rs1182259253	95	M>L		No	ClinGen gnomAD
rs757523917 CA8604633	97	A>S		No	ClinGen ExAC gnomAD
rs1365920113 CA399791418	99	V>M		No	ClinGen Ensembl
rs1375718768 CA399791505	104	E>K		No	ClinGen TOPMed
rs746414947 CA8604635	108	P>Q		No	ClinGen ExAC gnomAD
CA8604637 rs201264228	113	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8604636 rs770414415	113	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8604638 rs749318758	115	E>D		No	ClinGen ExAC gnomAD
rs1301874775 CA399791744	116	R>C		No	ClinGen gnomAD
rs762062345 CA8604641	123	A>T		No	ClinGen ExAC gnomAD
rs972479309 CA290947640	125	M>T		No	ClinGen gnomAD
CA399791906 rs1255640347	125	M>V		No	ClinGen TOPMed
CA8604643 rs773045036	127	K>T		No	ClinGen ExAC TOPMed gnomAD
CA8604644 rs760595884	128	F>L		No	ClinGen ExAC TOPMed gnomAD
CA399792013 rs1255620991	130	F>V		No	ClinGen gnomAD
TCGA novel	132	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399792091 rs1474583091	133	P>A		No	ClinGen gnomAD
CA290947649 rs868688445	134	E>A		No	ClinGen Ensembl
CA399792103 rs1248571035	134	E>K		No	ClinGen gnomAD
CA399792123 rs1184280246	135	R>H		No	ClinGen gnomAD
CA8604645 rs766237073	135	R>S		No	ClinGen ExAC TOPMed gnomAD
CA290947650 rs866001466	137	R>H		No	ClinGen gnomAD
CA399792141 rs866001466	137	R>L		No	ClinGen gnomAD
CA8604646 rs753404467	139	E>K		No	ClinGen ExAC gnomAD
CA399792201 rs1174987770	140	H>R		No	ClinGen gnomAD
VAR_083242 rs759024435 CA8604647	142	P>L	found in a patient with features of Robinow syndrome; unknown pathological significance [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1339240115 CA399792264	143	R>P		No	ClinGen TOPMed
TCGA novel	145	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390054192 CA399792295	145	G>R		No	ClinGen gnomAD
rs144916759 CA8604650	146	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056170782 CA290947664	147	E>K		No	ClinGen TOPMed
rs1470091490 CA399792341	148	Q>E		No	ClinGen TOPMed
rs756747247 CA8604653	152	G>A		No	ClinGen ExAC gnomAD
rs1373700762 CA399792521	156	S>Y		No	ClinGen TOPMed
rs749423345 CA399792524	157	E>K		No	ClinGen ExAC gnomAD
rs749423345 CA8604655	157	E>Q		No	ClinGen ExAC gnomAD
rs768891016 CA399792572	159	G>*		No	ClinGen ExAC TOPMed gnomAD
rs779004987 CA8604657	159	G>A		No	ClinGen ExAC gnomAD
CA8604656 rs768891016	159	G>R		No	ClinGen ExAC TOPMed gnomAD
CA290947699 rs938790525	160	A>P		No	ClinGen Ensembl
CA8604658 rs748334299	161	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770903448 CA8604662	165	T>N		No	ClinGen ExAC gnomAD
CA399792696 rs1198566326	166	T>S		No	ClinGen TOPMed
rs759427364 CA8604665	167	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1437285040 CA399792743	168	P>Q		No	ClinGen gnomAD
rs1253611469 CA399792767	169	P>L		No	ClinGen TOPMed
CA399792747 rs1292969671	169	P>T		No	ClinGen gnomAD
rs1043572819 CA290947731	172	L>V		No	ClinGen TOPMed
CA8604667 rs752191369	174	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764673652 CA8604666	174	P>S		No	ClinGen ExAC gnomAD
rs762514513 CA8604668	175	G>D		No	ClinGen ExAC TOPMed gnomAD
rs762514513 CA290947745	175	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8604669 CA399792885 rs530418343	177	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs552299284 CA8604670	178	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1220216796 CA399792920	179	T>S		No	ClinGen gnomAD
CA8604671 rs570404945	180	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780528773 CA8604672	181	G>D		No	ClinGen ExAC gnomAD
CA290947793 rs1038929261	183	P>L		No	ClinGen TOPMed
rs1598688743 CA399792991	184	G>D		No	ClinGen Ensembl
rs1184407847 CA399793036	187	G>D		No	ClinGen TOPMed
CA399793030 rs1469955991	187	G>S		No	ClinGen gnomAD
CA399793046 rs1336876177	188	A>S		No	ClinGen TOPMed gnomAD
rs904495986 CA290947816	189	P>S		No	ClinGen TOPMed gnomAD
CA290947825 rs999364876	190	P>A		No	ClinGen Ensembl
CA399793121 rs1416625449	194	T>A		No	ClinGen gnomAD
CA8604674 rs532764830	197	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs778865495 CA8604675 COSM1128688	199	F>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1431700816 CA399793347	203	R>C		No	ClinGen gnomAD
CA399793357 rs1208609685	203	R>H		No	ClinGen TOPMed
rs1335328160 CA399793366	204	V>I		No	ClinGen gnomAD
rs566397443 CA8604678	206	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	206	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290947889 rs745560735	211	L>R		No	ClinGen Ensembl
rs1289503825 CA399793652	215	F>C		No	ClinGen gnomAD
CA399793644 rs1598688787	215	F>L		No	ClinGen Ensembl
CA8604682 rs745816253	217	G>D		No	ClinGen ExAC TOPMed gnomAD
CA290947895 rs1006227093	217	G>S		No	ClinGen TOPMed gnomAD
rs769703330 CA8604683	218	E>*		No	ClinGen ExAC gnomAD
RCV000736148 RCV002533764 CA8604684 rs375633511	219	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375633511 CA399793713	219	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762507541 CA8604685	219	R>H		No	ClinGen ExAC gnomAD
CA8604689 rs368248456	223	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA399793901 rs1598688833	227	P>L		No	ClinGen Ensembl
CA8604691 rs754191382	228	A>P		No	ClinGen ExAC gnomAD
CA8604690 rs754191382	228	A>S		No	ClinGen ExAC gnomAD
COSM561006 CA399793929 rs1169257475	228	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM3958431 CA8604693 rs371992723	229	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1378636473 CA399793953	230	P>S		No	ClinGen TOPMed
CA8604695 rs777673157	231	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1451633742 CA399794027 COSM3712336	235	F>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA399794065 rs1367185671	237	S>*		No	ClinGen gnomAD
rs1234997586 CA399794083	238	Q>L		No	ClinGen TOPMed
rs757410006 CA8604697	241	T>K		No	ClinGen ExAC gnomAD
CA8604699 rs745654767	242	R>P		No	ClinGen ExAC gnomAD
TCGA novel	243	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399794245 COSM979988 rs1443411666	244	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs775470381 CA8604701	246	L>F		No	ClinGen ExAC gnomAD
CA399794290 rs1466602342	247	W>C		No	ClinGen gnomAD
RCV000885895 rs143455997 CA8604703	250	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8604705 rs761564563	253	V>L		No	ClinGen ExAC TOPMed gnomAD
CA399794473 rs369254941	256	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598688904 CA399794471	256	C>F		No	ClinGen Ensembl
CA399794480 rs1334398387	257	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759922644 CA8604708	259	T>A		No	ClinGen ExAC gnomAD
CA399794622 rs1222893148	262	T>A		No	ClinGen TOPMed
TCGA novel	265	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399794717 rs1281130175	266	Y>F		No	ClinGen TOPMed
CA8604709 rs769050190 COSM1383684	268	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399794809 rs1330380393	269	D>H		No	ClinGen TOPMed
CA8604710 rs753278694	270	M>R		No	ClinGen ExAC gnomAD
CA399794864 rs753278694	270	M>T		No	ClinGen ExAC gnomAD
rs1221438450 CA399794850	270	M>V		No	ClinGen Ensembl
rs1234766566 CA399794923	272	R>L		No	ClinGen gnomAD
CA8604711 rs758781030	273	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8604712 rs764170120	276	P>S		No	ClinGen ExAC gnomAD
TCGA novel	278	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	284	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs960229192 CA290948050	286	C>G		No	ClinGen Ensembl
rs781375731 CA8604715	287	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1445369464 CA399795210	288	T>A		No	ClinGen gnomAD
CA290948061 rs541765661 COSM3819748	290	V>M	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1247540055 CA399795384	296	A>V		No	ClinGen gnomAD
TCGA novel	297	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8604717 rs540840394	299	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA399795485 rs1171120457	300	L>V		No	ClinGen TOPMed
rs768414164 CA8604720	304	V>L		No	ClinGen ExAC gnomAD
rs1388042136 CA399795645	306	C>Y		No	ClinGen gnomAD
CA399795687 rs1430553474	308	E>Q		No	ClinGen TOPMed
CA8604723 rs771900202	309	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8604722 rs747650126	309	R>S		No	ClinGen ExAC gnomAD
CA8604726 rs770215499	312	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	314	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399795813 rs1348396900	314	G>V		No	ClinGen gnomAD
CA399795878 rs1292652015	316	R>C		No	ClinGen gnomAD
CA399795881 rs1490197432	316	R>L		No	ClinGen gnomAD
CA290948117 rs1043290843	318	V>M		No	ClinGen Ensembl
rs764576821 CA8604729	323	K>R		No	ClinGen ExAC gnomAD
CA290948120 rs925950278	324	K>E		No	ClinGen gnomAD
rs925950278 COSM979993 CA399795998	324	K>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA399796075 rs1598689022	328	T>P		No	ClinGen Ensembl
CA399796104 rs1362014589	330	L>I		No	ClinGen gnomAD
CA290948131 rs1053647443	333	M>I		No	ClinGen Ensembl
CA290948137 rs866732079	341	S>T		No	ClinGen Ensembl
CA8604732 rs767549516	343	I>V		No	ClinGen ExAC gnomAD
TCGA novel	345	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	346	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422204743 CA399797469	348	L>M		No	ClinGen gnomAD
rs1283802196 CA399797601	353	F>L		No	ClinGen TOPMed
rs1306672386 CA399797619	355	A>T		No	ClinGen gnomAD
rs1334324882 CA399797643	356	A>G		No	ClinGen gnomAD
rs1316342300 CA399797732	361	G>S		No	ClinGen gnomAD
TCGA novel	362	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269731273 CA399797752	362	H>R		No	ClinGen TOPMed
rs1220274619 CA399797748	362	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	363	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778973007 CA8604738	366	E>G		No	ClinGen ExAC TOPMed gnomAD
CA290948221 rs866062060	368	N>K		No	ClinGen Ensembl
CA8604739 rs747701116	368	N>T		No	ClinGen ExAC gnomAD
CA399797876 rs1598689082	371	Y>S		No	ClinGen Ensembl
CA8604741 rs777369808	373	H>P		No	ClinGen ExAC gnomAD
rs1414226071 CA399797939	376	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
VAR_083243	377	W>del	probable disease-associated variant found in a patient with features of Robinow syndrome [UniProt]	No	UniProt
rs746685961 CA8604743	379	V>L		No	ClinGen ExAC gnomAD
CA8604742 rs746685961 COSM1207712	379	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	380	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	381	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8604745 rs530531830	381	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1296057234 CA399797975	382	V>F		No	ClinGen gnomAD
CA399798008 rs1420830591	385	I>T		No	ClinGen TOPMed
CA8604746 rs769196121	386	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8604747 rs774804882	386	T>I		No	ClinGen ExAC gnomAD
CA8604749 CA399798073 rs767602533	390	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1382604177 CA399798067	390	M>T		No	ClinGen gnomAD
CA399798077 rs1299976629	391	G>R		No	ClinGen gnomAD
CA399798076 rs1299976629	391	G>S		No	ClinGen gnomAD
CA399798179 rs1316059026	398	L>M		No	ClinGen TOPMed
TCGA novel	401	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459890324 CA399798275	403	F>L		No	ClinGen TOPMed gnomAD
rs1419657640 CA399798311	406	L>F		No	ClinGen gnomAD
CA399798352 rs1427401815	408	S>N		No	ClinGen gnomAD
CA399798361 rs1167951005	409	L>M		No	ClinGen gnomAD
rs765084011 CA8604755	410	D>N		No	ClinGen ExAC gnomAD
CA290948311 rs1005899385	411	P>R		No	ClinGen Ensembl
CA8604756 rs371409349	412	L>M		No	ClinGen ESP ExAC TOPMed
CA8604758 rs777341173	414	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8604759 rs746494673	416	V>L		No	ClinGen ExAC gnomAD
TCGA novel	419	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399798533 rs1455744194	420	L>H		No	ClinGen gnomAD
CA399798551 rs1383973704	421	F>L		No	ClinGen TOPMed
rs1339183245 CA399798559 COSM1383688	422	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1451148515 CA399798587	423	Y>*		No	ClinGen gnomAD
rs756989889 CA399798616	426	I>F		No	ClinGen ExAC gnomAD
rs756989889 CA8604760	426	I>V		No	ClinGen ExAC gnomAD
RCV001310363 rs1555657073	434	G>A		No	ClinVar dbSNP
CA8604763 rs769034717	436	V>M		No	ClinGen ExAC gnomAD
CA8604766 rs201422597	439	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773401045 CA8604767	440	R>H		No	ClinGen ExAC gnomAD
rs867681109 COSM1383689 CA290948363	442	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
COSM979995 rs770035472 CA290948368	442	R>H	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs760651150 CA8604768	444	I>L		No	ClinGen ExAC gnomAD
CA8604769 rs766665442	444	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8604770 rs776751080	445	M>K		No	ClinGen ExAC gnomAD
CA399798855 rs1161069652	445	M>V		No	ClinGen TOPMed
rs772323293 CA8604771	448	D>G		No	ClinGen ExAC gnomAD
TCGA novel	448	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399798905 rs1480532152	448	D>Y		No	ClinGen gnomAD
rs773532997 CA8604773	449	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	451	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8604774 rs758474512	451	K>T		No	ClinGen ExAC gnomAD
CA399799000 rs1346236408	456	E>Q		No	ClinGen gnomAD
rs141791958 CA8604776	457	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756686384 CA290948413	460	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756686384 CA8604777	460	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8604779 rs780709416	461	R>L		No	ClinGen ExAC gnomAD
CA8604778 rs780709416	461	R>P		No	ClinGen ExAC gnomAD
CA399799055 rs1343473493	462	I>L		No	ClinGen gnomAD
CA8604781 rs779319509	463	G>S		No	ClinGen ExAC
rs1316230624 CA399799084	464	V>D		No	ClinGen gnomAD
COSM1207713 CA8604782 rs748501689	464	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA399799113 rs1598689293	466	S>C		No	ClinGen Ensembl
rs1213062571 CA399799103	466	S>T		No	ClinGen gnomAD
rs1490369116 CA399799121	467	V>E		No	ClinGen gnomAD
rs970175049 CA399799117	467	V>L		No	ClinGen TOPMed
rs970175049 CA290948446	467	V>M		No	ClinGen TOPMed
CA399799129 rs1266251835	468	L>I		No	ClinGen gnomAD
RCV000736149 CA399799137 rs1568105562	468	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA8604786 rs770938713	470	T>A		No	ClinGen ExAC gnomAD
rs966344285 CA290948462	472	P>L		No	ClinGen TOPMed gnomAD
rs1373093730 CA399799215	474	T>I		No	ClinGen TOPMed
TCGA novel	474	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	475	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759841056 CA8604788	475	I>V		No	ClinGen ExAC gnomAD
CA399799247 rs1598689326	476	V>I		No	ClinGen Ensembl
CA8604789 rs765550610	477	I>T		No	ClinGen ExAC gnomAD
CA8604791 COSM4130144 rs762816431	482	Y>*	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8604790 rs775481151	482	Y>H		No	ClinGen ExAC gnomAD
CA290948500 rs866012347	483	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1363873560 CA399799413	485	A>T		No	ClinGen gnomAD
TCGA novel	487	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399799453 rs1568105587	488	E>K		No	ClinGen Ensembl
rs1355758683 CA399799476	489	H>R		No	ClinGen TOPMed
rs926219317 CA290948525	491	E>K		No	ClinGen TOPMed gnomAD
rs751478883 COSM979996 CA8604793	492	R>C	liver endometrium Variant assessed as Somatic; 4.651e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1289359223 CA399799535	492	R>H		No	ClinGen Ensembl
CA399799558 rs1423453742	493	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	494	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399799587 rs1385421964	495	V>M		No	ClinGen TOPMed
CA8604794 rs761755955	498	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	499	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359549333 CA399799710	501	S>N		No	ClinGen gnomAD
rs749932584 CA8604796	503	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	504	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548910133 CA8604799	507	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8604798 rs779659041	507	P>S		No	ClinGen ExAC gnomAD
RCV000957618 CA8604801 rs138090948	508	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1598689381 CA399799861	510	Y>C		No	ClinGen Ensembl
rs1445321703 CA399799853	510	Y>H		No	ClinGen gnomAD
CA399799884 rs1598689386	511	T>R		No	ClinGen Ensembl
rs1238294571 CA399799918	512	P>Q		No	ClinGen TOPMed
CA290948589 rs974602506 COSM1252899	513	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1183159973 CA399799934	514	M>V		No	ClinGen gnomAD
CA8604804 rs781487182	517	D>N		No	ClinGen ExAC gnomAD
rs988811820 CA290948596	519	T>A		No	ClinGen gnomAD
CA399800045 rs988811820	519	T>S		No	ClinGen gnomAD
rs752446436 CA290948599	520	V>A		No	ClinGen Ensembl
rs922721167 CA290948603	521	Y>C		No	ClinGen TOPMed gnomAD
rs1338626837 CA399800092	522	M>L		No	ClinGen TOPMed gnomAD
CA399800094 rs1338626837	522	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	523	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399800123 rs1383384153	523	I>V		No	ClinGen gnomAD
CA399800187 rs1568105634	527	M>V		No	ClinGen Ensembl
CA290948610 rs1049775007	528	T>M		No	ClinGen TOPMed gnomAD
rs1047612015 CA290948618	533	I>V		No	ClinGen TOPMed
rs1304561617 CA399800361	538	W>R		No	ClinGen TOPMed
CA290948622 rs889616797	538	W>S		No	ClinGen Ensembl
rs1344385392 CA399800398	540	W>*		No	ClinGen TOPMed
rs1437629201 CA399800393	540	W>R		No	ClinGen gnomAD
TCGA novel	540	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399800491 rs1598689448	546	H>P		No	ClinGen Ensembl
CA399800498 rs1462119468	546	H>Q		No	ClinGen TOPMed gnomAD
rs1420668927 CA399800488	546	H>Y		No	ClinGen TOPMed
rs1568105666 CA399800526	548	W>*		No	ClinGen Ensembl
TCGA novel	548	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA290948628 rs942022627	549	R>K		No	ClinGen TOPMed
CA8604811 rs761727833	550	K>R		No	ClinGen ExAC gnomAD
rs201750182 CA8604812	553	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8604813 rs749987687	554	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1178260886 CA399800619	555	L>F		No	ClinGen gnomAD
rs1598689467 CA399800645	557	N>T		No	ClinGen Ensembl
rs144687330 CA8604815	559	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753511101 CA399800672	559	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753511101 CA8604816 COSM317385	559	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1038724972 CA399800687	560	H>Q		No	ClinGen TOPMed gnomAD
CA290948672 rs148517314	561	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs1213204785 CA399800732	563	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1370092002 CA399800756	565	V>G		No	ClinGen gnomAD
CA399800754 rs1265443674	565	V>L		No	ClinGen gnomAD

2 associated diseases with Q14332

[MIM: 164745]: Omodysplasia 2 (OMOD2)

A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. {ECO:0000269|PubMed:25759469, ECO:0000269|PubMed:29230162, ECO:0000269|PubMed:29383834, ECO:0000269|PubMed:30455931}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. {ECO:0000269|PubMed:25759469, ECO:0000269|PubMed:29230162, ECO:0000269|PubMed:29383834, ECO:0000269|PubMed:30455931}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q14332

Type	Name	Position	InterPro Accession
domain	Frizzled/Smoothened, transmembrane domain	234 - 558	IPR000539
domain	GPCR, family 2-like, transmembrane domain	244 - 547	IPR017981
domain	Frizzled domain	34 - 155	IPR020067
domain	Frizzled 2, cysteine-rich domain	35 - 161	IPR041778

Functions

		Description
EC Number
Subcellular Localization	Membrane; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
G protein-coupled receptor activity	Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
Wnt receptor activity	Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity.
Wnt-protein binding	Binding to a Wnt-protein, a secreted growth factor involved in signaling.

15 GO annotations of biological process

Name	Definition
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.
cochlea morphogenesis	The process in which the cochlea is generated and organized.
endothelial cell differentiation	The process in which a mesodermal, bone marrow or neural crest cell acquires specialized features of an endothelial cell, a thin flattened cell. A layer of such cells lines the inside surfaces of body cavities, blood vessels, and lymph vessels, making up the endothelium.
hard palate development	The biological process whose specific outcome is the progression of the hard palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. The hard palate is the anterior portion of the palate consisting of bone and mucous membranes.
inner ear receptor cell development	The process whose specific outcome is the progression of an inner ear receptor cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.
membranous septum morphogenesis	The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum.
muscular septum morphogenesis	The process in which the muscular septum is generated and organized. The muscular septum is the lower part of the ventricular septum.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
outflow tract morphogenesis	The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries.
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.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
sensory perception of smell	The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process.
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, 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.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O19116	SFRP1	Secreted frizzled-related protein 1	Bos taurus (Bovine)	PR
Q9DEQ4	SFRP1	Secreted frizzled-related protein 1	Gallus gallus (Chicken)	PR
O57328	FZD1	Frizzled-1	Gallus gallus (Chicken)	PR
Q9IA96	SFRP2	Secreted frizzled-related protein 2	Gallus gallus (Chicken)	PR
O00144	FZD9	Frizzled-9	Homo sapiens (Human)	PR
O75084	FZD7	Frizzled-7	Homo sapiens (Human)	PR
Q6FHJ7	SFRP4	Secreted frizzled-related protein 4	Homo sapiens (Human)	PR
Q8N474	SFRP1	Secreted frizzled-related protein 1	Homo sapiens (Human)	PR
Q96HF1	SFRP2	Secreted frizzled-related protein 2	Homo sapiens (Human)	PR
Q9ULW2	FZD10	Frizzled-10	Homo sapiens (Human)	PR
Q9UP38	FZD1	Frizzled-1	Homo sapiens (Human)	PR
O60353	FZD6	Frizzled-6	Homo sapiens (Human)	PR
Q9Z1N6	Sfrp4	Secreted frizzled-related sequence protein 4	Mus musculus (Mouse)	PR
P97299	Sfrp2	Secreted frizzled-related protein 2	Mus musculus (Mouse)	PR
Q8C4U3	Sfrp1	Secreted frizzled-related protein 1	Mus musculus (Mouse)	PR
O70421	Fzd1	Frizzled-1	Mus musculus (Mouse)	PR
Q61090	Fzd7	Frizzled-7	Mus musculus (Mouse)	PR
Q9JIP6	Fzd2	Frizzled-2	Mus musculus (Mouse)	PR
Q08463	Fzd1	Frizzled-1	Rattus norvegicus (Rat)	PR
Q9JLS4	Sfrp4	Secreted frizzled-related protein 4	Rattus norvegicus (Rat)	PR
Q08464	Fzd2	Frizzled-2	Rattus norvegicus (Rat)	PR
Q7YRN1	SFRP4	Secreted frizzled-related protein 4	Macaca mulatta (Rhesus macaque)	PR
Q5BL72	fzd7	Frizzled-7	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MRPRSALPRL	LLPLLLLPAA	GPAQFHGEKG	ISIPDHGFCQ	PISIPLCTDI	AYNQTIMPNL
70	80	90	100	110	120
LGHTNQEDAG	LEVHQFYPLV	KVQCSPELRF	FLCSMYAPVC	TVLEQAIPPC	RSICERARQG
130	140	150	160	170	180
CEALMNKFGF	QWPERLRCEH	FPRHGAEQIC	VGQNHSEDGA	PALLTTAPPP	GLQPGAGGTP
190	200	210	220	230	240
GGPGGGGAPP	RYATLEHPFH	CPRVLKVPSY	LSYKFLGERD	CAAPCEPARP	DGSMFFSQEE
250	260	270	280	290	300
TRFARLWILT	WSVLCCASTF	FTVTTYLVDM	QRFRYPERPI	IFLSGCYTMV	SVAYIAGFVL
310	320	330	340	350	360
QERVVCNERF	SEDGYRTVVQ	GTKKEGCTIL	FMMLYFFSMA	SSIWWVILSL	TWFLAAGMKW
370	380	390	400	410	420
GHEAIEANSQ	YFHLAAWAVP	AVKTITILAM	GQIDGDLLSG	VCFVGLNSLD	PLRGFVLAPL
430	440	450	460	470	480
FVYLFIGTSF	LLAGFVSLFR	IRTIMKHDGT	KTEKLERLMV	RIGVFSVLYT	VPATIVIACY
490	500	510	520	530	540
FYEQAFREHW	ERSWVSQHCK	SLAIPCPAHY	TPRMSPDFTV	YMIKYLMTLI	VGITSGFWIW
550	560
SGKTLHSWRK	FYTRLTNSRH	GETTV