AiPD: Autoinhibited Protein Database

Q9UIK5

Gene name	TMEFF2 (HPP1, TENB2, TPEF, UNQ178/PRO204)
Protein name	Tomoregulin-2
Names	TR-2, Hyperplastic polyposis protein 1, Transmembrane protein with EGF-like and two follistatin-like domains
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23671
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

105-283 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

105-283 (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 Q9UIK5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UIK5-F1	Predicted				AlphaFoldDB

251 variants for Q9UIK5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1295518264 CA350010117	3	L>P		No	ClinGen gnomAD
CA350010099 rs1262733042	5	E>D		No	ClinGen gnomAD
CA2032994 rs779160484	6	S>Y		No	ClinGen ExAC gnomAD
rs1050471132 CA63085150	7	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs376387678 CA2032992	8	R>W		No	ClinGen ESP ExAC gnomAD
CA2032991 rs780276241	9	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA2032990 rs756271756	10	C>G		No	ClinGen ExAC gnomAD
rs1304319658 CA350010061	12	S>G		No	ClinGen gnomAD
rs750575175 CA2032989	14	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2032987 rs757318245	16	C>F		No	ClinGen ExAC gnomAD
TCGA novel CA2032988 rs767705460	16	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1408058658 CA350010019	18	G>R		No	ClinGen TOPMed gnomAD
CA350010020 rs1408058658	18	G>S		No	ClinGen TOPMed gnomAD
CA2032985 rs140698350	20	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350010002 rs140698350	20	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2032984 rs200513061	21	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1361986982 CA350009997	21	W>G		No	ClinGen gnomAD
CA350009991 rs1419758212	22	L>V		No	ClinGen gnomAD
CA350009985 rs150944192	23	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759157251 CA2032980	27	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2032981 rs759157251	27	V>I		No	ClinGen ExAC TOPMed gnomAD
CA63085148 rs924540939	28	M>V		No	ClinGen TOPMed gnomAD
CA63085147 rs1045412204	30	L>H		No	ClinGen TOPMed gnomAD
CA350009944 rs1045412204	30	L>R		No	ClinGen TOPMed gnomAD
TCGA novel	31	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140151336 CA2032978	32	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs140151336 CA350009935	32	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2032977 rs748659109	33	A>S		No	ClinGen ExAC gnomAD
CA63085146 rs756479237	34	R>G		No	ClinGen Ensembl
COSM1267982 rs376482759 CA2032976	34	R>H	oesophagus large_intestine Variant assessed as Somatic; 9.242e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2032975 rs376482759	34	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA350009919 rs1313676976	35	P>Q		No	ClinGen gnomAD
CA350009900 rs1447428219	38	L>F		No	ClinGen Ensembl
rs1243384435 CA350009897	38	L>R		No	ClinGen TOPMed gnomAD
rs1022719572 CA63085145	39	A>S		No	ClinGen gnomAD
TCGA novel	42	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2032974 rs749713615	43	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2032972 rs756475214	44	S>F		No	ClinGen ExAC TOPMed gnomAD
rs866249858 CA63085144	48	C>Y		No	ClinGen Ensembl
rs1420189216 CA350009824	49	Q>H		No	ClinGen gnomAD
rs746079330 CA2032971	52	T>I		No	ClinGen ExAC gnomAD
rs1574453567 CA350009790	55	N>D		No	ClinGen Ensembl
CA350009786 rs1446714038	55	N>I		No	ClinGen gnomAD
CA350009785 rs1574453557	55	N>K		No	ClinGen Ensembl
rs781431736 CA2032970	57	S>P		No	ClinGen ExAC gnomAD
CA350009754 rs1450624962	58	G>D		No	ClinGen TOPMed
rs1445643158 CA350009769	58	G>S		No	ClinGen gnomAD
rs777683127 CA2032948	59	Y>H		No	ClinGen ExAC gnomAD
CA63084869 rs113377200	60	D>V		No	ClinGen Ensembl
TCGA novel	63	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752563226 CA2032946	63	E>D		No	ClinGen ExAC gnomAD
CA2032944 rs555477719	65	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA350009660 rs1406653334	71	T>S		No	ClinGen gnomAD
rs1559166168 CA350009657	72	N>D		No	ClinGen Ensembl
rs1264463491 CA350009655	72	N>T		No	ClinGen TOPMed gnomAD
TCGA novel	74	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331778682 CA350009625	76	F>Y		No	ClinGen TOPMed gnomAD
CA350009617 rs753512988	77	D>A		No	ClinGen ExAC gnomAD
rs753512988 CA2032943	77	D>G		No	ClinGen ExAC gnomAD
rs753512988 CA350009616	77	D>V		No	ClinGen ExAC gnomAD
CA63084868 rs929029288	83	I>T		No	ClinGen TOPMed
CA2032941 rs760216006	83	I>V		No	ClinGen ExAC gnomAD
CA63084867 rs917779767	86	T>A		No	ClinGen TOPMed
rs750019775 CA2032940	87	V>L		No	ClinGen ExAC gnomAD
CA2032937 rs140929080	90	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA350009524 rs1319374818	91	C>F		No	ClinGen gnomAD
rs1478613615 CA350009515	92	Q>H		No	ClinGen gnomAD
TCGA novel	94	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63084072 rs111701475	95	C>R		No	ClinGen Ensembl
CA350009471 rs1183089653	96	N>K		No	ClinGen TOPMed
CA350009462 rs1467305883	97	N>K		No	ClinGen gnomAD
TCGA novel	97	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398122298 CA350009459	98	D>Y		No	ClinGen TOPMed gnomAD
rs1352970095 CA350009446	99	Y>*		No	ClinGen gnomAD
rs1426118582 CA350009438	101	P>T		No	ClinGen TOPMed
CA2032914 rs777204069	102	V>L		No	ClinGen ExAC gnomAD
TCGA novel	103	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245580000 CA350009424	103	C>Y		No	ClinGen gnomAD
rs1559162270 CA350009416	104	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1380815291 CA350009418	104	G>S		No	ClinGen gnomAD
rs375240069 CA2032912	106	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350009398 rs1344917383	107	G>E		No	ClinGen gnomAD
rs1005988761 CA63084071	107	G>R		No	ClinGen TOPMed
CA350009395 rs1161748858 COSM1691767	108	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA350009372 rs533973355	110	Y>*		No	ClinGen 1000Genomes gnomAD
CA350009369 rs1402903541	111	Q>*		No	ClinGen gnomAD
CA350009363 rs1403463501	112	N>H		No	ClinGen TOPMed
CA2032909 rs748224118	117	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2032908 rs774382007	117	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768644331 CA350009315	119	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768644331 CA2032907	119	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	119	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350009302 rs1483454717	121	C>R		No	ClinGen gnomAD
CA2032906 rs144281154	123	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213581934 CA350009272	125	S>G		No	ClinGen gnomAD
rs1489216171 CA350009262	126	E>A		No	ClinGen gnomAD
CA350009254 rs1221835982	127	I>T		No	ClinGen gnomAD
rs779834454 CA2032905	127	I>V		No	ClinGen ExAC gnomAD
rs138101540 COSM1267984 CA63084066	129	V>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA63084067 rs138101540	129	V>M		No	ClinGen ESP TOPMed
CA2032903 rs745569944	133	G>E		No	ClinGen ExAC gnomAD
rs896314196 CA63084065	134	S>L		No	ClinGen TOPMed
CA2032902 rs780663752	134	S>T		No	ClinGen ExAC gnomAD
CA350008934 rs1294747613	138	D>G		No	ClinGen gnomAD
rs1268766651 CA350009190	138	D>Y		No	ClinGen gnomAD
rs1046681967 CA63083604	142	G>R		No	ClinGen TOPMed
rs61744272 RCV000956020 CA2032863	148	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2032861 rs778479824	150	G>S		No	ClinGen ExAC gnomAD
CA350009142 rs1160504071	153	E>K		No	ClinGen gnomAD
rs1440624415 CA350009130	154	T>S		No	ClinGen gnomAD
rs978384101 CA63070304	155	S>T		No	ClinGen Ensembl
CA350009102 rs1181918712	158	E>G		No	ClinGen gnomAD
rs751243020 CA63070303	161	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1321861669 CA350009078	162	C>G		No	ClinGen TOPMed
CA350009061 rs1461148578	164	I>T		No	ClinGen Ensembl
CA2032860 rs756635531	164	I>V		No	ClinGen ExAC gnomAD
CA350008996 rs1485161242	173	E>K	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752891854 CA63070301	176	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA350008968 rs1304715809	177	D>N		No	ClinGen TOPMed
rs757573785 CA2032857	178	V>I		No	ClinGen ExAC
CA350008749 rs1488347916	179	W>C		No	ClinGen gnomAD
CA350008740 rs1290332113	180	C>F		No	ClinGen gnomAD
CA350008734 rs1207747274	181	V>L		No	ClinGen gnomAD
rs760595540 CA350008721	182	C>F		No	ClinGen ExAC TOPMed gnomAD
rs760595540 CA2032846	182	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA350008715 rs1265882289	183	N>D		No	ClinGen gnomAD
CA350008698 rs773109446	184	I>N		No	ClinGen ExAC TOPMed gnomAD
CA2032845 rs773109446	184	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2032844 rs771916526	188	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs778297516 CA2032842	189	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350008650 rs778297516	189	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	192	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350008597 rs1321646596	194	L>F		No	ClinGen gnomAD
CA2032838 rs757743619	196	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	196	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778109157 CA350008542 CA2032836	199	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	201	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	201	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372989384 CA2032832	208	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	210	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766458630 CA2032830	212	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773197202 CA2032828	214	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761373987 CA2032826	218	K>I		No	ClinGen ExAC gnomAD
CA350008358 rs1402964223	222	M>I		No	ClinGen gnomAD
CA2032824 rs376413936	222	M>V		No	ClinGen ESP ExAC gnomAD
CA350008353 rs1332421962	223	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA350008349 rs1197720704	224	L>V		No	ClinGen TOPMed
rs1469802216 CA350008343	225	G>S		No	ClinGen gnomAD
CA2032823 rs149067350	226	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1377660012 CA350008317	229	D>N		No	ClinGen gnomAD
CA2032799 rs766298682	231	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2032798 rs773671304	232	T>I		No	ClinGen ExAC
CA350008269 rs1245474771	234	T>S		No	ClinGen gnomAD
rs1221753894 CA350008248	237	S>C		No	ClinGen TOPMed
TCGA novel	237	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219312866 CA350008230	240	G>R		No	ClinGen TOPMed gnomAD
CA350008215 rs1449455264	242	Y>H		No	ClinGen gnomAD
CA63064185 rs551205116	243	A>T		No	ClinGen Ensembl
rs994722260 CA63064184	243	A>V		No	ClinGen Ensembl
rs962893458 CA63064183	245	T>A		No	ClinGen Ensembl
rs1487505541 CA350008183	247	Y>H		No	ClinGen gnomAD
rs772345111 CA2032795	249	E>K		No	ClinGen ExAC gnomAD
CA350008129 rs1264049445	251	A>G		No	ClinGen gnomAD
TCGA novel	255	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350008087 rs1574242007	257	S>G		No	ClinGen Ensembl
CA2032772 rs768835168	259	R>G		No	ClinGen ExAC gnomAD
CA63059703 rs369037663	259	R>K		No	ClinGen ESP TOPMed
TCGA novel	261	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	262	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	264	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2032771 COSM4154734 rs749549984	266	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350008022 rs749549984	266	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA63059702 rs749549984	266	P>R		No	ClinGen ExAC TOPMed gnomAD
rs780371300 CA2032770	268	H>D		No	ClinGen ExAC gnomAD
rs1335527550 CA350007997	270	N>D		No	ClinGen TOPMed
rs1298717806 CA350007994	270	N>S		No	ClinGen gnomAD
COSM3709291 rs1342749759 CA350007989	271	G>S	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs781131872 CA2032767	274	M>I		No	ClinGen ExAC gnomAD
CA2032768 rs745981320	274	M>V		No	ClinGen ExAC gnomAD
CA350007929 rs1295740533	279	E>*		No	ClinGen gnomAD
CA350007927 rs1218139995	279	E>G		No	ClinGen gnomAD
CA350007919 rs1294960462	280	H>R		No	ClinGen gnomAD
CA63059701 rs267599130	281	S>F		No	ClinGen Ensembl
rs757280794 CA2032766	282	I>T		No	ClinGen ExAC gnomAD
rs1279287570 CA350007901	283	N>T		No	ClinGen TOPMed
CA350007892 rs1329008097 COSM442032	284	M>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA350007895 rs1399339845	284	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2032765 rs751397117	285	Q>*		No	ClinGen ExAC gnomAD
CA2032764 rs777632459	285	Q>R		No	ClinGen ExAC gnomAD
CA2032762 rs201999170	286	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2032763 rs539071429	286	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150289283 CA63059700	287	P>T		No	ClinGen ESP gnomAD
CA350007852 rs1192042680	290	R>M		No	ClinGen gnomAD
rs950976727 CA63059369	294	G>A		No	ClinGen TOPMed
rs866507936 CA350007605	299	H>L		No	ClinGen gnomAD
CA63059367 rs866507936	299	H>R		No	ClinGen gnomAD
TCGA novel	299	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559057921 CA350007593	300	C>R		No	ClinGen Ensembl
CA350007582 rs1241803384	301	E>Q		No	ClinGen gnomAD
rs765943296 CA2032732	303	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1553506636	303	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2032733 rs200174014	303	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs755527259 CA2032731	305	Y>F		No	ClinGen ExAC gnomAD
rs1381231837 CA350007496	306	S>G		No	ClinGen TOPMed gnomAD
rs1477050688 CA350007459	308	L>P		No	ClinGen TOPMed gnomAD
rs1033671440 CA63059366	309	Y>H		No	ClinGen TOPMed gnomAD
rs763546804 CA2032728	310	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1160707179 CA350007428	312	P>T		No	ClinGen gnomAD
CA2032726 rs765643659	313	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2032724 COSM1691765 rs200358691	316	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350007353 rs1287961222	318	Q>P		No	ClinGen gnomAD
CA350007305 rs1218388265	321	L>S		No	ClinGen gnomAD
TCGA novel	322	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2032717 rs533253842	323	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs886310157 CA63059365	324	A>S		No	ClinGen Ensembl
rs1574238884 CA350007273	325	V>M		No	ClinGen Ensembl
CA350007264 rs1323218119	326	I>T		No	ClinGen gnomAD
rs1242355320 CA350007267	326	I>V		No	ClinGen gnomAD
rs1349007781 CA350007257	327	G>E		No	ClinGen TOPMed
rs779619059 CA2032715	331	I>M		No	ClinGen ExAC gnomAD
rs1399273538 CA350007213	332	A>T		No	ClinGen gnomAD
rs1204874541 CA350007207	332	A>V		No	ClinGen TOPMed
rs1574238849 CA350007187	334	I>F		No	ClinGen Ensembl
CA2032713 rs749963778	337	V>M		No	ClinGen ExAC gnomAD
CA350007103 rs1278766344	340	C>Y		No	ClinGen gnomAD
CA2032710 rs753192293	341	I>S		No	ClinGen ExAC gnomAD
CA2032711 rs758989507	341	I>V		No	ClinGen ExAC gnomAD
CA2032676 rs774379982	344	K>R		No	ClinGen ExAC gnomAD
rs1394667775 CA350006391	345	C>W		No	ClinGen TOPMed
CA2032675 rs768540894	346	P>A		No	ClinGen ExAC gnomAD
rs756796676 CA2032674	347	R>K		No	ClinGen ExAC TOPMed gnomAD
rs775165358 CA2032673	348	S>I		No	ClinGen ExAC TOPMed gnomAD
CA350006365 rs895019151	349	N>K		No	ClinGen gnomAD
rs1182485378 CA350006352	351	I>S		No	ClinGen gnomAD
rs1337601615 CA350006356	351	I>V		No	ClinGen TOPMed
rs1276659375 COSM95372 CA350006344	352	H>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA350006347 rs1441764301	352	H>R		No	ClinGen gnomAD
CA2032672 rs151097045	353	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA350006341 rs1348591662	353	R>K		No	ClinGen gnomAD
rs1282480476 CA350006324	355	K>R		No	ClinGen TOPMed
rs1324036783 CA350006293	359	G>E		No	ClinGen TOPMed
rs1379635799 CA350006292	360	H>N		No	ClinGen gnomAD
rs1458280486 CA350006275	362	S>G		No	ClinGen TOPMed gnomAD
CA350006273 rs1448031388	362	S>N		No	ClinGen gnomAD
rs1448031388 CA350006272	362	S>T		No	ClinGen gnomAD
rs368718191 CA2032668	364	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	368	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754303159 CA2032665	371	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2032663 rs756453035	373	L>F		No	ClinGen ExAC gnomAD

No associated diseases with Q9UIK5

3 regional properties for Q9UIK5

Type	Name	Position	InterPro Accession
domain	EGF-like domain	261 - 301	IPR000742
domain	Kazal domain	90 - 137	IPR002350-1
domain	Kazal domain	181 - 229	IPR002350-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Membrane ; Single-pass type I membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
basement membrane	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.
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.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

8 GO annotations of biological process

Name	Definition
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of integrin 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 integrins.
negative regulation of stress fiber assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
tissue development	The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure.
wound healing, spreading of cells	The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P50291	FST	Follistatin	Bos taurus (Bovine)	PR
Q17QD6	TMEFF2	Tomoregulin-2	Bos taurus (Bovine)	PR
Q90844	FST	Follistatin	Gallus gallus (Chicken)	PR
Q9QYM9	Tmeff2	Tomoregulin-2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MVLWESPRQC	SSWTLCEGFC	WLLLLPVMLL	IVARPVKLAA	FPTSLSDCQT	PTGWNCSGYD
70	80	90	100	110	120
DRENDLFLCD	TNTCKFDGEC	LRIGDTVTCV	CQFKCNNDYV	PVCGSNGESY	QNECYLRQAA
130	140	150	160	170	180
CKQQSEILVV	SEGSCATDAG	SGSGDGVHEG	SGETSQKETS	TCDICQFGAE	CDEDAEDVWC
190	200	210	220	230	240
VCNIDCSQTN	FNPLCASDGK	SYDNACQIKE	ASCQKQEKIE	VMSLGRCQDN	TTTTTKSEDG
250	260	270	280	290	300
HYARTDYAEN	ANKLEESARE	HHIPCPEHYN	GFCMHGKCEH	SINMQEPSCR	CDAGYTGQHC
310	320	330	340	350	360
EKKDYSVLYV	VPGPVRFQYV	LIAAVIGTIQ	IAVICVVVLC	ITRKCPRSNR	IHRQKQNTGH
370
YSSDNTTRAS	TRLI