AiPD: Autoinhibited Protein Database

O95484

Gene name	CLDN9
Protein name	Claudin-9
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9080
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

156-217 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

156-217 (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

3 structures for O95484

Entry ID	Method	Resolution	Chain	Position	Source
6OV2	X-ray	320 A	A	1-217	PDB
6OV3	X-ray	325 A	A	1-217	PDB
AF-O95484-F1	Predicted				AlphaFoldDB

270 variants for O95484

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001265114 rs2072541692	29	L>missing	Hearing loss, autosomal recessive 116 [ClinVar]	Yes	ClinVar dbSNP
rs773682747 RCV001255162 RCV001751522	124	I>missing	Hearing loss, autosomal recessive 116 [ClinVar]	Yes	ClinVar dbSNP
RCV001093595 rs1388025205 CA394443620	159	E>K	Nonsyndromic genetic hearing loss Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
CA394440652 rs1397425371	2	A>S		No	ClinGen gnomAD
TCGA novel	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7853939 COSM969892 rs144730563	3	S>L	kidney endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7853942 rs538519186	5	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394440711 rs1222926701	5	G>V		No	ClinGen gnomAD
CA394440771 rs749501404	8	L>Q		No	ClinGen ExAC gnomAD
CA7853944 rs749501404	8	L>R		No	ClinGen ExAC gnomAD
CA7853945 rs140410599	10	G>V		No	ClinGen ESP ExAC gnomAD
CA7853947 rs374429657	11	M>I		No	ClinGen ExAC gnomAD
CA7853946 rs774657538	11	M>T		No	ClinGen ExAC gnomAD
rs1447910396 CA394440815	11	M>V		No	ClinGen TOPMed gnomAD
rs1280795037 CA394440847	12	T>I		No	ClinGen TOPMed
CA394440843 rs1280795037	12	T>N		No	ClinGen TOPMed
CA394440880 rs1274540201	14	A>D		No	ClinGen TOPMed
CA394440904 rs1480415449	15	V>G		No	ClinGen gnomAD
rs958512345 CA276865209	16	L>P		No	ClinGen TOPMed
rs772684061 CA394440931	17	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772684061 CA7853948	17	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1308773352 CA394440947	18	W>*		No	ClinGen Ensembl
rs909963370 CA276865236	20	G>E		No	ClinGen Ensembl
rs750111126 CA7853953	25	C>R		No	ClinGen ExAC gnomAD
CA7853954 rs368045321	25	C>W		No	ClinGen ExAC TOPMed gnomAD
CA7853956 rs751354671	26	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	29	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482380653 CA394441210	30	W>*		No	ClinGen TOPMed gnomAD
rs773818198 CA276865316	31	K>Q		No	ClinGen Ensembl
rs767532136 CA7853958	31	K>R		No	ClinGen ExAC gnomAD
CA394441280 rs1596467332	32	V>G		No	ClinGen Ensembl
rs1207223082 CA394441274	32	V>L		No	ClinGen gnomAD
rs1207223082 CA394441259	32	V>M		No	ClinGen gnomAD
rs1179195404 CA394441305	33	T>I		No	ClinGen TOPMed gnomAD
rs756277481 CA394441316	34	A>S		No	ClinGen ExAC gnomAD
CA7853960 rs756277481	34	A>T		No	ClinGen ExAC gnomAD
rs1007062296 CA276865329	35	F>I		No	ClinGen gnomAD
CA394441382 rs1418582908	36	I>L		No	ClinGen gnomAD
rs757420145 CA7853963	36	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM178542 rs746271447 CA7853965	37	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779085754 CA276865361	37	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779085754 CA7853964	37	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1356162083 CA394441441	38	N>H		No	ClinGen TOPMed
CA276865379 rs145882247	41	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7853968 rs145882247	41	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7853970 rs772812332	42	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1306429183 CA394441582	44	Q>*		No	ClinGen TOPMed gnomAD
CA7853974 rs759442841	46	V>G		No	ClinGen ExAC TOPMed gnomAD
COSM358975 rs774119241 CA394441633 CA7853973	46	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767203719 CA394441668	47	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7853975 rs767203719	47	W>C		No	ClinGen ExAC TOPMed gnomAD
CA7853976 rs138697130	48	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479954953 CA394441709	49	G>D		No	ClinGen gnomAD
CA7853979 rs764180087	51	W>*		No	ClinGen ExAC gnomAD
rs201252752 CA7853981	53	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7853980 rs201252752	53	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7853983 COSM1128984 rs746072973	54	C>S	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394441845 rs1227127188	55	V>A		No	ClinGen TOPMed
rs142749972 CA7853985	55	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA276865427 rs765599212	57	Q>R		No	ClinGen TOPMed
CA7853987 rs554077504	58	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7853989 rs574035742	59	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs202102733 CA7853993	60	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202102733 CA7853992	60	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394441956 rs1349988768	61	Q>*		No	ClinGen TOPMed
CA394442024 rs1166219712	63	Q>P		No	ClinGen TOPMed
CA394442061 rs1403540452	64	C>*		No	ClinGen TOPMed
rs1315312673 CA394442043	64	C>R		No	ClinGen gnomAD
CA276865472 rs867461598	64	C>Y		No	ClinGen Ensembl
CA394442071 rs1306201271	65	K>E		No	ClinGen gnomAD
rs1227363469 CA394442078	65	K>T		No	ClinGen gnomAD
rs1457819683 CA394442108	66	V>L		No	ClinGen TOPMed gnomAD
CA394442155 rs1388055005	68	D>E		No	ClinGen TOPMed
CA7853996 rs760494708	68	D>N		No	ClinGen ExAC gnomAD
CA394442144 rs1451154115	68	D>V		No	ClinGen TOPMed
CA7853998 rs753769971	69	S>L		No	ClinGen ExAC gnomAD
rs764058885 CA7853997	69	S>P		No	ClinGen ExAC gnomAD
CA394442217 rs1373610277	71	L>R		No	ClinGen gnomAD
CA394442208 rs1169647960	71	L>V		No	ClinGen gnomAD
rs77321442 CA7854003	74	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7854002 rs147520555	74	P>S		No	ClinGen ESP ExAC gnomAD
CA394442259 rs147520555	74	P>T		No	ClinGen ESP ExAC gnomAD
rs544084273 CA7854005	76	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1382082637 CA394442323	78	Q>*		No	ClinGen gnomAD
CA276865536 rs1044675110	79	A>T		No	ClinGen TOPMed
TCGA novel	79	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770579664 CA7854009	80	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7854008 rs770579664	80	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375644575 CA7854010	81	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs775175337 CA7854012	81	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375644575 CA7854011	81	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs760454690 CA7854013	82	A>T		No	ClinGen ExAC gnomAD
CA394442402 rs1238909529	83	L>R		No	ClinGen gnomAD
CA7854014 rs768426809	84	C>Y		No	ClinGen ExAC gnomAD
CA394442426 rs201203260	86	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7854016 rs372118474	86	I>T		No	ClinGen ExAC TOPMed gnomAD
rs201203260 CA7854015	86	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750418823 CA7854018	88	L>P		No	ClinGen ExAC TOPMed gnomAD
rs765328047 CA7854017	88	L>V		No	ClinGen ExAC TOPMed gnomAD
rs374545504 CA7854020	91	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA394442523 rs1433983503	91	A>V		No	ClinGen TOPMed
rs200358793 CA7854021	94	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	94	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA276865599 rs868531041	95	L>I		No	ClinGen Ensembl
rs755451876 CA7854022	95	L>P		No	ClinGen ExAC gnomAD
CA7854023 rs781642627	96	L>R		No	ClinGen ExAC gnomAD
CA7854025 rs756651062	97	V>G		No	ClinGen ExAC gnomAD
CA7854024 rs142023644	97	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7854026 rs778320259	98	A>S		No	ClinGen ExAC gnomAD
CA7854027 rs745408590	99	I>M		No	ClinGen ExAC TOPMed gnomAD
CA394442676 rs1396661012	100	T>I		No	ClinGen Ensembl
CA7854028 rs150685719	101	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214763434 CA394442700	102	A>T		No	ClinGen gnomAD
rs779631055 CA7854029	103	Q>*		No	ClinGen ExAC gnomAD
CA7854031 rs768441259	104	C>R		No	ClinGen ExAC gnomAD
CA7854033 rs200382778	105	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769775002 CA7854034	106	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7854037 rs141101134	107	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199692917 CA276865670	107	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7854038 rs774449392	108	V>M		No	ClinGen ExAC
rs199855287 CA7854039 COSM310133	110	D>E	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7854041 rs753063496	111	E>K		No	ClinGen ExAC TOPMed gnomAD
rs143546941 CA7854043	112	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7854042 rs756514094	112	G>R		No	ClinGen ExAC TOPMed gnomAD
CA394442917 rs143546941	112	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA394442958 rs1174267683	115	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7854044 rs34769999	116	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7854045 rs377171800	116	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7854046 rs377171800	116	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394443001 rs1309610500	117	I>L		No	ClinGen gnomAD
rs746690844 CA7854047	117	I>M		No	ClinGen ExAC TOPMed gnomAD
CA276865720 rs908732859	117	I>N		No	ClinGen TOPMed
CA7854049 rs780797887	118	V>M		No	ClinGen ExAC TOPMed gnomAD
rs747980212 CA7854050	119	L>I		No	ClinGen ExAC gnomAD
CA394443068 rs773085395	121	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773085395 CA7854052	121	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7854053 rs201542121	121	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394443088 rs1179489977	122	G>E		No	ClinGen gnomAD
CA394443086 rs1596467504	122	G>W		No	ClinGen Ensembl
CA276865773 rs374173952	123	V>A		No	ClinGen Ensembl
CA394443097 rs1567404519	123	V>I		No	ClinGen Ensembl
CA394443133 rs1386354990	125	L>H		No	ClinGen gnomAD
CA7854060 rs144284714	128	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA394443170 rs144284714	128	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352248795 CA394443179	128	A>V		No	ClinGen gnomAD
rs867184826 CA276865801	129	G>D		No	ClinGen Ensembl
CA7854062 rs764461264	129	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757738939 CA7854064	133	L>V		No	ClinGen ExAC gnomAD
CA7854065 rs199515582	135	P>S		No	ClinGen ExAC TOPMed gnomAD
rs200666691 CA7854067	136	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1437281614 CA394443349	137	C>*		No	ClinGen gnomAD
rs1240204853 CA394443371	138	W>*		No	ClinGen TOPMed gnomAD
rs148868713 CA7854068	138	W>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs571860251 CA394443392	139	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7854069 rs571860251	139	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777558859 CA7854071	140	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777558859 CA394443399	140	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7854072 rs142704650	140	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7854074 rs778974877	141	H>D		No	ClinGen ExAC TOPMed gnomAD
CA394443408 rs778974877	141	H>N		No	ClinGen ExAC TOPMed gnomAD
CA7854075 rs746010011	141	H>P		No	ClinGen ExAC gnomAD
CA7854077 rs775867692	142	A>S		No	ClinGen ExAC TOPMed gnomAD
CA276865948 rs775867692	142	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1567404565 CA394443426	142	A>V		No	ClinGen Ensembl
rs1245449254 CA394443450	144	I>M		No	ClinGen TOPMed
CA394443454 rs1335740798	145	Q>*		No	ClinGen TOPMed gnomAD
CA7854079 rs374569945	146	D>Y		No	ClinGen ESP ExAC gnomAD
CA7854080 rs777002117	148	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA394443492 rs777002117	148	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1596467561 CA394443512	149	N>T		No	ClinGen Ensembl
rs942943726 CA276866000	150	P>R		No	ClinGen Ensembl
CA276865995 rs911202406	150	P>T		No	ClinGen Ensembl
rs750927486 CA7854084	151	L>P		No	ClinGen ExAC gnomAD
rs771833909	151	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759108272 CA7854085	152	V>L		No	ClinGen ExAC gnomAD
rs759108272 CA394443545	152	V>M		No	ClinGen ExAC gnomAD
TCGA novel	153	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394443578 rs1191549901	155	A>T		No	ClinGen gnomAD
CA7854086 rs766960811	156	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394443594 rs1478452898	156	L>H		No	ClinGen gnomAD
CA7854088 COSM3402273 rs755753054	158	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7854087 rs752351415	158	R>W		No	ClinGen ExAC TOPMed gnomAD
CA276866073 rs903946886	162	A>P		No	ClinGen TOPMed
rs1339674507 CA394443674	163	S>C		No	ClinGen gnomAD
rs1339674507 CA394443675	163	S>F		No	ClinGen gnomAD
rs990385684 CA276866087	163	S>T		No	ClinGen gnomAD
rs1339674507 CA394443672	163	S>Y		No	ClinGen gnomAD
CA394443681 rs1400546498	164	L>F		No	ClinGen gnomAD
CA394443716 rs1567404607	166	L>Q		No	ClinGen Ensembl
rs745740390 CA7854094	167	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7854095 rs554337745 COSM969894	169	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA394443771 rs1203717236	170	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	171	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865779448 CA276866130	171	A>T		No	ClinGen Ensembl
CA7854099 rs573945523	171	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7854100 rs776683775	172	A>P		No	ClinGen ExAC TOPMed gnomAD
rs762307423 CA7854101	173	L>V		No	ClinGen ExAC
CA7854103 rs773726356	174	L>F		No	ClinGen ExAC gnomAD
rs1479156594 CA394443816	174	L>P		No	ClinGen gnomAD
rs767046566 CA7854105	175	M>I		No	ClinGen ExAC gnomAD
CA7854104 rs763387733	175	M>L		No	ClinGen ExAC gnomAD
rs374732646 CA7854107	178	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374732646 CA7854108	178	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA394444473 rs1455394137	179	G>E		No	ClinGen Ensembl
rs763852712	180	L>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs974222738 CA276866254	180	L>F		No	ClinGen TOPMed gnomAD
rs763849196 CA7854109	180	L>P		No	ClinGen ExAC gnomAD
rs763852712	180	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302111859 CA394444519	182	C>Y		No	ClinGen gnomAD
CA7854111 rs757086614	183	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7854112 rs757086614	183	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7854114 rs758361462 COSM703271	184	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750413624 CA7854113	184	T>P		No	ClinGen ExAC TOPMed gnomAD
CA394444581 rs1219310575	185	C>*		No	ClinGen gnomAD
rs938406416 CA7854117	185	C>F		No	ClinGen TOPMed
CA7854120 rs755005764	186	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7854119 rs747152311	186	P>S		No	ClinGen ExAC gnomAD
CA276866309 rs747152311	186	P>T		No	ClinGen ExAC gnomAD
CA7854122 rs748261167	187	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7854123 rs748261167	187	P>R		No	ClinGen ExAC TOPMed gnomAD
rs753671764	188	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749821372 CA7854125	188	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771479858 CA7854126	189	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs750412014 CA7854127	190	V>A		No	ClinGen ExAC gnomAD
rs1160261745 CA394444653	190	V>F		No	ClinGen TOPMed gnomAD
rs760288322 CA394444665	191	E>*		No	ClinGen ExAC TOPMed gnomAD
rs760288322 CA7854128	191	E>K		No	ClinGen ExAC TOPMed gnomAD
rs369508377 CA7854130	192	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200152104 CA7854129	192	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765145552 CA7854132	194	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394444697 rs765145552	194	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM239339 rs199530650 CA7854134	194	R>H	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs199530650 CA7854133	194	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765145552 CA394444699	194	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755100566 CA7854137	195	G>E		No	ClinGen ExAC gnomAD
rs1018316675 CA276866504	195	G>R		No	ClinGen gnomAD
CA7854140 rs748433830	197	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7854139 rs748433830	197	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7854138 rs201829414	197	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA7854143 rs749695925	199	G>A		No	ClinGen ExAC TOPMed gnomAD
CA394444770 rs749695925	199	G>D		No	ClinGen ExAC TOPMed gnomAD
CA394444762 rs1237142962	199	G>S		No	ClinGen TOPMed gnomAD
rs749695925 CA7854142	199	G>V		No	ClinGen ExAC TOPMed gnomAD
CA394444795 rs1423089671	200	Y>*		No	ClinGen gnomAD
CA7854145 rs746290562	200	Y>H		No	ClinGen ExAC gnomAD
CA7854147 rs540207743	201	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7854148 rs540207743	201	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577828435 CA394444801	201	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577828435 CA7854146	201	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568496719 CA7854150	202	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529134493 CA7854151	202	I>N		No	ClinGen 1000Genomes
CA394444836 rs1596467674	203	P>R		No	ClinGen Ensembl
rs1596467672 CA394444829	203	P>S		No	ClinGen Ensembl
rs766251184 CA7854155	205	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754832732 CA7854156	205	R>H	Variant assessed as Somatic; 5.803e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394444862 rs766251184	205	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7854158 rs542857815	206	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7854157 rs767658793	206	S>P		No	ClinGen ExAC gnomAD
CA394444898 rs1319596532	207	G>R		No	ClinGen TOPMed gnomAD
CA394444910 rs1306295828	207	G>V		No	ClinGen gnomAD
CA276866612 rs376124691	208	A>T		No	ClinGen ESP TOPMed gnomAD
rs995714365 CA276866629	209	S>F		No	ClinGen TOPMed gnomAD
rs1200127082 CA394444980	212	D>N		No	ClinGen gnomAD
CA276866630 rs977997133	212	D>V		No	ClinGen Ensembl
CA7854161 rs753999816	214	R>K		No	ClinGen ExAC gnomAD
rs755885384 CA394445050	215	D>A		No	ClinGen TOPMed gnomAD
CA7854163 rs757620673	215	D>N		No	ClinGen ExAC gnomAD
rs755885384 CA276866648	215	D>V		No	ClinGen TOPMed gnomAD
CA7854165 rs370499404	217	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282477106 CA394445115	218	V>C		No	ClinGen gnomAD

1 associated diseases with O95484

[MIM: 619093]: Deafness, autosomal recessive, 116 (DFNB116)

A form of non-syndromic deafness characterized by slowly progressive, moderate to profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:31175426}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic deafness characterized by slowly progressive, moderate to profound sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:31175426}. Note=The disease is caused by variants affecting the gene represented in this entry.

13 regional properties for O95484

Type	Name	Position	InterPro Accession
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	537 - 683	IPR000547-1
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	686 - 828	IPR000547-2
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	833 - 972	IPR000547-3
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	979 - 1124	IPR000547-4
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	1128 - 1269	IPR000547-5
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	1274 - 1420	IPR000547-6
repeat	Clathrin, heavy chain/VPS, 7-fold repeat	1423 - 1582	IPR000547-7
domain	Clathrin, heavy chain, linker, core motif	331 - 354	IPR015348
repeat	Clathrin, heavy chain, propeller repeat	19 - 56	IPR022365-1
repeat	Clathrin, heavy chain, propeller repeat	148 - 187	IPR022365-2
repeat	Clathrin, heavy chain, propeller repeat	198 - 234	IPR022365-3
repeat	Clathrin, heavy chain, propeller repeat	256 - 288	IPR022365-4
repeat	Clathrin, heavy chain, propeller repeat	296 - 330	IPR022365-5

Functions

		Description
EC Number
Subcellular Localization	Cell junction, tight junction 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
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma 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.

3 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
virus receptor activity	Combining with a virus component and mediating entry of the virus into the cell.

3 GO annotations of biological process

Name	Definition
bicellular tight junction assembly	The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet.
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	The attachment of one cell to another cell via adhesion molecules that do not require the presence of calcium for the interaction.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y5I7	CLDN16	Claudin-16	Homo sapiens (Human)	PR
O95832	CLDN1	Claudin-1	Homo sapiens (Human)	PR
P56856	CLDN18	Claudin-18	Homo sapiens (Human)	PR
Q9NGJ7	clc-5	Clc-like protein 5	Caenorhabditis elegans	PR

10	20	30	40	50	60
MASTGLELLG	MTLAVLGWLG	TLVSCALPLW	KVTAFIGNSI	VVAQVVWEGL	WMSCVVQSTG
70	80	90	100	110	120
QMQCKVYDSL	LALPQDLQAA	RALCVIALLL	ALLGLLVAIT	GAQCTTCVED	EGAKARIVLT
130	140	150	160	170	180
AGVILLLAGI	LVLIPVCWTA	HAIIQDFYNP	LVAEALKREL	GASLYLGWAA	AALLMLGGGL
190	200	210
LCCTCPPPQV	ERPRGPRLGY	SIPSRSGASG	LDKRDYV