Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2705
Gene name	Gap junction protein beta 1
Gene symbol	GJB1
Synonyms (NCBI Gene)	CMTXCMTX1CX32
Chromosome	X
Chromosome location	Xq13.1
Summary	This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequen

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894810	C>T	Pathogenic	Coding sequence variant, missense variant
rs104894811	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894812	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894813	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894814	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs104894817	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894818	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894819	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894820	G>A,T	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894821	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894822	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894823	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894824	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894826	T>C	Pathogenic	Coding sequence variant, missense variant
rs116840815	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840816	G>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840817	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840818	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs116840819	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs116840820	G>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs116840821	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs116840822	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs116840823	CCGTCTTCA>-,CCGTCTTCACCGTCTTCA	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion, inframe insertion
rs139643362	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483352926	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777876	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs587777877	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587777878	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777879	C>T	Pathogenic	Missense variant, coding sequence variant
rs587781246	C>G,T	Likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs751230398	A>G,T	Likely-pathogenic	Splice acceptor variant
rs756000896	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs756928158	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs760123011	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs768834663	T>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs771022595	C>G,T	Likely-pathogenic, uncertain-significance, benign	Coding sequence variant, synonymous variant, missense variant
rs779696968	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs786204095	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs786204123	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224471	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224472	G>A	Pathogenic	Stop gained, coding sequence variant
rs863224612	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224971	C>A,T	Pathogenic	Intron variant, 5 prime UTR variant
rs863224972	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs863224973	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs863224974	G>A	Pathogenic	Missense variant, coding sequence variant
rs864622215	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs876661119	G>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661143	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661252	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs876661269	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs878853697	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs879253909	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs879253935	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs879253946	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253995	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs879254012	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs879254047	G>A	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant
rs879254096	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant
rs879254097	A>G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs879254098	T>C,G	Uncertain-significance, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs879254099	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs913934445	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1003232768	T>C	Likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1057518780	T>A,C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518946	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060500998	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060501000	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501002	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1060501004	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064793139	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064794244	T>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795540	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795785	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691258	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691322	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1213746899	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1241595912	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555936989	G>A,C	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1555936999	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937009	C>A,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937015	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555937020	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1555937077	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937082	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937084	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555937122	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937135	GAG>-	Uncertain-significance, pathogenic	Inframe deletion, coding sequence variant
rs1555937143	->T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1555937150	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555937161	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937166	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937168	TG>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1555937180	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555937197	T>C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937218	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937221	->ACAGTGGACTGCTTCGTGTCCCGCCCCACC	Uncertain-significance, likely-pathogenic	Inframe insertion, coding sequence variant
rs1555937233	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555937270	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1569214985	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569215025	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215061	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215212	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569215263	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215346	->A	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1569215418	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569215424	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569215443	C>A	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1569215591	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602348726	->CATGG	Pathogenic	Coding sequence variant, frameshift variant
rs1602348782	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602348794	AG>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1602348981	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1602349095	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349420	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349451	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349603	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1602349692	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349779	TGTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349940	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349955	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602349962	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350003	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350012	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602350029	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350059	GGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602350062	->G	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018652	hsa-miR-335-5p	Microarray	18185580
MIRT713553	hsa-miR-4686	HITS-CLIP	19536157
MIRT713554	hsa-miR-4469	HITS-CLIP	19536157
MIRT713552	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713551	hsa-miR-4287	HITS-CLIP	19536157
MIRT713550	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT713549	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT713548	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT713547	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT713546	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT713545	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT713544	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT713543	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT713542	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT713541	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT713540	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT713539	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT713538	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT662901	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT662900	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT662899	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT662898	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT455549	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT455548	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT455546	hsa-miR-4779	PAR-CLIP	23592263
MIRT455547	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455545	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455544	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455543	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455542	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455541	hsa-miR-6085	PAR-CLIP	23592263
MIRT455540	hsa-miR-6813-5p	PAR-CLIP	23592263
MIRT455539	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT455537	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT455538	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT455536	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT455535	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT455534	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT455533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT455532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT455531	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT455530	hsa-miR-4283	PAR-CLIP	23592263
MIRT455529	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT713553	hsa-miR-4686	HITS-CLIP	19536157
MIRT713554	hsa-miR-4469	HITS-CLIP	19536157
MIRT713552	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713551	hsa-miR-4287	HITS-CLIP	19536157
MIRT713550	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT713549	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT713548	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT713547	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT713546	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT713545	hsa-miR-4763-5p	HITS-CLIP	19536157
MIRT713544	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT713543	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT713542	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT713541	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT713540	hsa-miR-6894-3p	HITS-CLIP	19536157
MIRT713539	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT713538	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT662901	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT662900	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT662899	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT662898	hsa-miR-6802-3p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT657856	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT657855	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT455549	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT455548	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT455546	hsa-miR-4779	PAR-CLIP	23592263
MIRT455547	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT455545	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT455544	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT455543	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT455542	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT455541	hsa-miR-6085	PAR-CLIP	23592263
MIRT455540	hsa-miR-6813-5p	PAR-CLIP	23592263
MIRT455539	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT455537	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT455538	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT455536	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT455535	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT455534	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT455533	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT455532	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT455531	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT455530	hsa-miR-4283	PAR-CLIP	23592263
MIRT455529	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT445693	hsa-miR-3133	PAR-CLIP	22100165
MIRT445692	hsa-miR-4511	PAR-CLIP	22100165
MIRT445691	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT445690	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT445689	hsa-miR-1286	PAR-CLIP	22100165
MIRT445688	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT445687	hsa-miR-6511b-5p	PAR-CLIP	22100165
MIRT445686	hsa-miR-6811-5p	PAR-CLIP	22100165
MIRT1019742	hsa-miR-194	CLIP-seq
MIRT1019743	hsa-miR-3143	CLIP-seq
MIRT1019744	hsa-miR-4269	CLIP-seq
MIRT1019745	hsa-miR-4514	CLIP-seq
MIRT1019746	hsa-miR-4692	CLIP-seq
MIRT1019747	hsa-miR-4742-5p	CLIP-seq
MIRT1019748	hsa-miR-543	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
EGR2	Unknown	11493034
SOX10	Activation	15470753
SOX10	Repression	16494873;21918739
SOX10	Unknown	11734543

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	TAS	2875078
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	TAS	8266101
GO:0007399	Process	Nervous system development	TAS	8266101
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	TAS
GO:0042802	Function	Identical protein binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
304040	4283	ENSG00000169562

P08034

Protein name

Gap junction beta-1 protein (Connexin-32) (Cx32) (GAP junction 28 kDa liver protein)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

PDB

5KK9 , 7ZXM , 7ZXN , 7ZXO , 7ZXP , 7ZXQ , 7ZXT , 8QJF , 8QJH , 8QK6 , 8QKI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 214	Connexin	Family

Sequence

MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC
NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV
KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF
VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC

Sequence length

283

Interactions

View interactions

	Reactome
			Oligomerization of connexins into connexons Gap junction assembly

1218

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs786204095, rs786204123, rs863224613, rs779696968, rs863224471, rs863224971, rs863224972, rs116840821, rs879254012, rs879253935, rs879254096, rs756000896, rs879253909, rs879254099, rs104894812 View all (77 more)	RCV000789271 RCV000789950 RCV000789860 RCV000790300 RCV000789836 RCV001276387 RCV001276388 RCV000789222 RCV000789918 RCV000789296 RCV000789171 RCV000789853 RCV000789192 RCV000789850 RCV000789810 RCV000789817 RCV000789235 RCV000789872 RCV000789665 RCV000789309 RCV000789234 RCV000789199 RCV000789812 RCV000789225 RCV000789955 RCV000789819 RCV000789185 RCV000512762 RCV000789221 RCV000789233 RCV000789189 RCV000789837 RCV000789848 RCV000789935 RCV000789811 RCV000789859 RCV000789250 RCV000789937 RCV000789319 RCV000789256 RCV000789280 RCV000789800 RCV000789055 RCV000789839 RCV000789941 RCV000789922 RCV000789244 RCV000789813 RCV000789284 RCV000789956 RCV000789206 RCV000789875 RCV000789834 RCV000789252 RCV000789282 RCV000789889 RCV000789237 RCV000789265 RCV000789808 RCV000789795 RCV000789851 RCV000789920 RCV000789867 RCV000789801 RCV000789315 RCV000789180 RCV000789273 RCV000789876 RCV000789184 RCV000789901 RCV000789842 RCV000789828 RCV000789804 RCV000789300 RCV000789948 RCV000789868 RCV000789169 RCV000789283 RCV000789259 RCV000789931 RCV000789276 RCV000789882 RCV000789805 RCV000789217 RCV000789306 RCV000789220 RCV000790237 RCV000789929 RCV000789833 RCV000789892 RCV000789224 RCV000789909 RCV000789822 RCV000789861 RCV000789823 RCV000789213 RCV001173557 RCV001173558
Charcot-Marie-Tooth disease X-linked dominant 1	Pathogenic; Likely pathogenic	rs2092543877, rs483352926, rs2147946493, rs11551260, rs2147946914, rs587777877, rs587777878, rs587777876, rs2147946047, rs1602349468, rs2092541958, rs863224974, rs786204123, rs879254098, rs756928158 View all (87 more)	RCV001329667 RCV000083303 RCV001799555 RCV003336450 RCV003447328 RCV000143793 RCV000143794 RCV000143795 RCV002250015 RCV002250016 RCV002288368 RCV002289183 RCV000714875 RCV004556862 RCV001249761 RCV005252809 RCV003633486 RCV000754745 RCV005050678 RCV000201088 RCV003447516 RCV000201183 RCV000201004 RCV000201175 RCV002466254 RCV003447126 RCV003129583 RCV003129584 RCV003129585 RCV003129586 RCV003129587 RCV003129588 RCV003129589 RCV003152859 RCV000235072 RCV001249760 RCV003447129 RCV002272191 RCV003388834 RCV000011176 RCV000011177 RCV000011178 RCV000011179 RCV000011180 RCV000011181 RCV000011182 RCV000011183 RCV000011184 RCV000011186 RCV000011187 RCV000011189 RCV000011191 RCV000011194 RCV000011196 RCV003320013 RCV003388962 RCV003445450 RCV000020171 RCV000020172 RCV000020174 RCV000020175 RCV000020176 RCV001782902 RCV000853377 RCV000763633 RCV002248750 RCV003993995 RCV000011193 RCV004787898 RCV003447150 RCV000990864 RCV003447153 RCV003447152 RCV002289943 RCV005231278 RCV003447155 RCV002249416 RCV003447160 RCV001353154 RCV003447219 RCV005409740 RCV003447274 RCV002249493 RCV003447278 RCV003517267 RCV003447273 RCV003447201 RCV005251222 RCV000990863 RCV003447200 RCV003447214 RCV003447296 RCV002470980 RCV003447285 RCV001706707 RCV001353158 RCV004669115 RCV000990866 RCV003985824 RCV002290041 RCV003387929 RCV002290040 RCV003447208 RCV000984885 RCV000990865 RCV000995551 RCV001310077 RCV006257328 RCV001253189
Charcot-Marie-Tooth Neuropathy X	Pathogenic; Likely pathogenic	rs2092543877, rs1602348519, rs2147946234, rs2147945690, rs2147945283, rs2147946194, rs11551260, rs2147945660, rs2147946105, rs2147946319, rs2147946914, rs2147945853, rs587777877, rs587777878, rs587777876 View all (134 more)	RCV005094410 RCV001388320 RCV001389524 RCV001931693 RCV001988871 RCV001870424 RCV001863851 RCV001879384 RCV001948014 RCV001906781 RCV001951516 RCV001979845 RCV001042343 RCV002512552 RCV000460808 RCV000168011 RCV000168077 RCV003050621 RCV003064736 RCV000461635 RCV002824268 RCV002843908 RCV002858558 RCV002881128 RCV000199286 RCV000200595 RCV000200289 RCV000197033 RCV002979199 RCV000228634 RCV000234336 RCV000691748 RCV001044069 RCV000793229 RCV003035711 RCV003059216 RCV000205076 RCV000654849 RCV000471605 RCV003581890 RCV000470682 RCV000793260 RCV001068519 RCV001388434 RCV001854850 RCV001234751 RCV000822814 RCV000804182 RCV000688999 RCV000474456 RCV001053029 RCV000545060 RCV000466155 RCV000463876 RCV001245963 RCV000168221 RCV000537008 RCV001851787 RCV003582224 RCV003581952 RCV003581953 RCV003582421 RCV003581444 RCV003581476 RCV003582925 RCV003582085 RCV003582049 RCV003741553 RCV003742107 RCV003742128 RCV003742167 RCV003742259 RCV001064548 RCV000654844 RCV000167902 RCV000654837 RCV001057812 RCV000475257 RCV000467465 RCV000476759 RCV000456635 RCV000468413 RCV000809132 RCV000704995 RCV000796941 RCV000552811 RCV000544254 RCV000654852 RCV000805747 RCV000552022 RCV000549070 RCV000541816 RCV000529489 RCV000559484 RCV000547989 RCV000535675 RCV000537790 RCV001855312 RCV000654851 RCV000654836 RCV000654841 RCV000705914 RCV000691854 RCV000701205 RCV000684965 RCV000688157 RCV000685646 RCV000698825 RCV001056787 RCV001370664 RCV001061206 RCV001856232 RCV001040086 RCV000799767 RCV003581722 RCV001065214 RCV001388385 RCV002536914 RCV000819010 RCV001869217 RCV001873223 RCV003581724 RCV001377073 RCV001869218 RCV002535810 RCV001869228 RCV005092369 RCV005092371 RCV001856241 RCV005092374 RCV003581731 RCV001869215 RCV001070375 RCV000805388 RCV001058334 RCV000808788 RCV000796042 RCV000823732 RCV000819796 RCV001058722 RCV001066555 RCV001043520 RCV001055661 RCV001050378 RCV001039712 RCV001051168 RCV002559664 RCV001220843 RCV001214227 RCV001220122 RCV001217905 RCV001213124 RCV001228242 RCV001248661
Dejerine-Sottas disease	Pathogenic	rs104894826	RCV000011197
GJB1-related disorder	Pathogenic	rs1060500998	RCV003401459
Hand muscle atrophy	Likely pathogenic	rs2147945859	RCV001824097
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs2147944895, rs2519798879, rs1241595912	RCV001814518 RCV003126286 RCV001814206

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cerebellar ataxia	Conflicting classifications of pathogenicity	rs1602349280	RCV001002786
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome	Benign; Likely benign	rs183702021	RCV001271688
Colon adenocarcinoma	Benign	rs113014279	RCV005900622
Decreased nerve conduction velocity	Conflicting classifications of pathogenicity	rs1057518780	RCV000415205
Distal lower limb muscle weakness	Conflicting classifications of pathogenicity	rs1057518780	RCV000414760
Distal muscle weakness	Conflicting classifications of pathogenicity	rs1057518780	RCV000415205
Hammertoe	Conflicting classifications of pathogenicity	rs1057518780	RCV000415205
Ovarian serous cystadenocarcinoma	Benign	rs111853447	RCV005896456
Peroneal muscle atrophy	Conflicting classifications of pathogenicity	rs1057518780	RCV000414760
Pes cavus	Conflicting classifications of pathogenicity	rs1057518780	RCV000415205
Sensory neuropathy	Conflicting classifications of pathogenicity	rs1057518780	RCV000415205
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs199570177	RCV005898459

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholic Neuropathy	Associate	29236290
Ataxia	Associate	23773993
Brain Ischemia	Associate	19794823
Breast Neoplasms	Associate	32918981
Carcinogenesis	Associate	23351380, 25206281
Carcinoma Hepatocellular	Associate	11833073, 12717835, 15633210, 34830068
Carcinoma Hepatocellular	Inhibit	15334670
Carcinoma Non Small Cell Lung	Associate	19550132
Carcinoma Renal Cell	Associate	15699574
Cell Transformation Neoplastic	Associate	28492539
Central Nervous System Diseases	Associate	28071741, 28469099, 39232641
Central Nervous System Infections	Associate	23773993
Charcot Marie Tooth Disease	Associate	10071100, 10587015, 11545686, 15719046, 16912585, 17620124, 19259128, 20128140, 22577229, 24078732, 25086786, 27027447, 27088055, 27098783, 28677541 View all (12 more)
Charcot Marie Tooth disease Type 2B	Associate	10071100, 15719046, 20532933, 28677541, 7912286
Charcot Marie Tooth disease Type 4A	Associate	28283593, 30257968
Charcot Marie Tooth disease X linked 1	Associate	10071100, 10587015, 12185164, 15508871, 17603245, 17620124, 20491857, 20532933, 21254193, 22483671, 25086786, 27098783, 28283593, 28469099, 28677541 View all (17 more)
Chemical and Drug Induced Liver Injury	Associate	40024757
Consciousness Disorders	Associate	28071741
Deafness	Associate	12185164
Demyelinating Diseases	Associate	16481890, 17603245, 24053775
Disease	Associate	28469099
Drug Related Side Effects and Adverse Reactions	Associate	15699574, 32342615
Encephalitis	Inhibit	25438677
Encephalomyelitis Acute Disseminated	Associate	29245364
Epilepsy	Associate	35383424
Fetal Alcohol Spectrum Disorders	Associate	28071741
Gastritis Atrophic	Associate	25206281
Genetic Diseases Inborn	Associate	32918981
Glioblastoma	Associate	36931032
Granulosa Cell Tumor	Associate	22012769
Hearing Loss	Associate	15719046
Hearing Loss Sensorineural	Associate	21254920
Hereditary Central Nervous System Demyelinating Diseases	Associate	39639332
Hereditary Sensory and Autonomic Neuropathies	Associate	20491857
Hereditary Sensory and Motor Neuropathy	Associate	34169998
Intestinal Diseases	Associate	25206281
Jensen syndrome	Associate	29236290
Kidney Neoplasms	Associate	15699574
Leiomyoma	Associate	21685710
Leukemia Myeloid Acute	Associate	34539009
Leukoencephalopathies	Associate	23707145, 25086786, 39232641
Liver Failure	Associate	40024757
Lymphatic Metastasis	Associate	32918981
Mobility Limitation	Associate	28071741
Mouth Neoplasms	Associate	23524428
Muscular Atrophy	Associate	17620124
Myocardial Ischemia	Associate	19794823
Neoplasms	Inhibit	15699574, 16613782
Neoplasms	Associate	22012769, 28492539, 32918981
Neoplastic Syndromes Hereditary	Associate	16481890, 29236290
Nervous System Diseases	Associate	17620124, 20532933, 28071741
Paraplegia	Associate	39232641
Peripheral Nervous System Diseases	Associate	28071741, 31842800, 39639332
Posterior Leukoencephalopathy Syndrome	Associate	31842800
Precancerous Conditions	Inhibit	34769157
Progressive hearing loss stapes fixation	Associate	27098783
Prostatic Neoplasms	Associate	12205082, 25548281, 26087186
Ptosis Hereditary Congenital 2	Associate	15508871
Retinal Dysplasia	Associate	25206281
Sensorimotor neuropathy with ataxia autosomal dominant	Associate	9328258
Signs and Symptoms	Associate	28469099
Spastic ataxia Charlevoix Saguenay type	Associate	36833258
Spastic Paraplegia Hereditary	Associate	39232641
Spinocerebellar Ataxia 11	Associate	23773993
Spinocerebellar ataxia X linked 2	Associate	23773993
Squamous Cell Carcinoma of Head and Neck	Associate	23524428
Stomach Neoplasms	Inhibit	23351380
Stomach Neoplasms	Associate	25206281
Tomaculous neuropathy	Associate	16481890
Urinary Bladder Neoplasms	Associate	21483740
Uterine Cervical Neoplasms	Associate	28492539

GJB1 (gap junction protein beta 1)