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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2705
Gene name Gene Name - the full gene name approved by the HGNC.	Gap junction protein beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GJB1
Synonyms (NCBI Gene) Gene synonyms aliases	CMTX, CMTX1, CX32
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs1602349383, rs1602348981, rs1569215061, rs1602349603, rs1131691322, rs1602348610, rs1241595912, rs1555937233, rs116840819, rs1555937135, rs1555937168, rs1602348794, rs1602348820, rs1602349716, rs863224471 View all (75 more)	N/A
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth Neuropathy X	rs756000896, rs863224471, rs1602348726, rs1555937135, rs104894814, rs1602349045, rs104894822, rs879254047, rs1602348786, rs1602349383, rs879253946, rs1060501002, rs1602348981, rs1569215346, rs1602349029 View all (92 more)	N/A
Charcot-Marie-Tooth Disease, X-Linked	Charcot-Marie-Tooth disease X-linked dominant 1	rs1057520778, rs116840819, rs483352926, rs1555937143, rs1602349087, rs863224973, rs879253935, rs786204123, rs1555937259, rs1602349248, rs863224471, rs587777877, rs1602349603, rs104894817, rs1602348610 View all (66 more)	N/A
dejerine-sottas disease	Dejerine-Sottas disease	rs104894826	N/A
Peripheral Neuropathy	peripheral neuropathy	rs1241595912	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
cerebellar ataxia	Cerebellar ataxia	N/A	N/A	ClinVar
Cerebellar Ataxia, X-Linked	X-linked progressive cerebellar ataxia	N/A	N/A	GenCC
Gout	Gout	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)