GJB2
entrez
2706
canonical
uniprot
P29033
canonical
ensembl
ENSG00000165474
resolver
ensp
ENSP00000372295
resolver
ensp
ENSP00000372299
resolver
ensp
ENSP00000576289
resolver
ensp
ENSP00000576290
resolver
ensp
ENSP00000576291
resolver
ensp
ENSP00000576292
resolver
ensp
ENSP00000576293
resolver
ensp
ENSP00000576294
resolver
ensp
ENSP00000576295
resolver
ensp
ENSP00000627409
resolver
enst
ENST00000382844
resolver
enst
ENST00000382848
resolver
enst
ENST00000906230
resolver
enst
ENST00000906231
resolver
enst
ENST00000906232
resolver
enst
ENST00000906233
resolver
enst
ENST00000906234
resolver
enst
ENST00000906235
resolver
enst
ENST00000906236
resolver
enst
ENST00000957350
resolver
genesymbol
GJB2
resolver
hgnc
HGNC:4284
resolver
uniprot
H9U1J4
resolver
uniprot
Q508A5
resolver
uniprot
Q508A6
resolver
uniprot
Q5YLL0
resolver
uniprot
Q5YLL1
resolver
uniprot
Q5YLL4
resolver
uniprot
Q6IPV5
resolver
uniprot
Q86U88
resolver
uniprot
Q96AK0
resolver
uniprot
Q9H536
resolver
uniprot
Q9NNY4
resolver
uniprot_entry
CXB2_HUMAN
resolver
uniprot_entry
H9U1J4_HUMAN
resolver
uniprot_sec
Q508A5
resolver
uniprot_sec
Q508A6
resolver
uniprot_sec
Q5YLL0
resolver
uniprot_sec
Q5YLL1
resolver
uniprot_sec
Q5YLL4
resolver
uniprot_sec
Q6IPV5
resolver
uniprot_sec
Q86U88
resolver
uniprot_sec
Q96AK0
resolver
uniprot_sec
Q9H536
resolver
uniprot_sec
Q9NNY4
resolver
amino_acid_sequence
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]: A form of non-syndromic 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:10807696, ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:12786758, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:9620796}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]: A form of non-syndromic 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:10807696, ECO:0000269|PubMed:11313763, ECO:0000269|PubMed:11439000, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:12786758, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:9620796}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Vohwinkel syndrome (VOWNKL) [MIM:124500]: An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness. {ECO:0000269|PubMed:10369869, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:15954104, ECO:0000269|PubMed:18688874}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness. {ECO:0000269|PubMed:10633135, ECO:0000269|PubMed:10757647, ECO:0000269|PubMed:12372058, ECO:0000269|PubMed:12668604, ECO:0000269|PubMed:15996214, ECO:0000269|PubMed:17993581, ECO:0000269|PubMed:9856479}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210]: An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails. {ECO:0000269|PubMed:11912510, ECO:0000269|PubMed:12548749, ECO:0000269|PubMed:12752120}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bart-Pumphrey syndrome (BAPS) [MIM:149200]: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. {ECO:0000269|PubMed:15482471, ECO:0000269|PubMed:15952212}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]: An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. {ECO:0000269|PubMed:12072059}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:16849369, PubMed:19384972, PubMed:21094651). {ECO:0000269|PubMed:16849369, ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}.
uniprot
proteins
mass_dalton
26215
uniprot
proteins
mutagenesis
MUTAGEN 2..10; /note="Missing: Strongly reduced insertion into the cell membrane and strongly reduced gap junction plaque assembly."; /evidence="ECO:0000269|PubMed:21094651"; MUTAGEN 2..7; /note="Missing: Loss of gap junction ion conductance."; /evidence="ECO:0000269|PubMed:21094651"; MUTAGEN 34; /note="M->A: Loss of gap junction ion conductance, probably due to very low open probability of the channels. Can form functional channels with wild-type, but with strongly reduced channel conductance. No visible effect on channel assembly and membrane insertion."; /evidence="ECO:0000269|PubMed:21094651
uniprot
proteins
protein_family
Beta-type (group I) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10369869
uniprot
proteins
pubmed
10607953
uniprot
proteins
pubmed
10633135
uniprot
proteins
pubmed
10757647
uniprot
proteins
pubmed
10807696
uniprot
proteins
pubmed
10830906
uniprot
proteins
pubmed
11313763
uniprot
proteins
pubmed
11439000
uniprot
proteins
pubmed
11912510
uniprot
proteins
pubmed
12072059
uniprot
proteins
pubmed
12121355
uniprot
proteins
pubmed
12239718
uniprot
proteins
pubmed
12372058
uniprot
proteins
pubmed
12548749
uniprot
proteins
pubmed
12560944
uniprot
proteins
pubmed
12668604
uniprot
proteins
pubmed
12746422
uniprot
proteins
pubmed
12752120
uniprot
proteins
pubmed
12786758
uniprot
proteins
pubmed
1324944
uniprot
proteins
pubmed
14694360
uniprot
proteins
pubmed
14722929
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15482471
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592461
uniprot
proteins
pubmed
15666300
uniprot
proteins
pubmed
15700112
uniprot
proteins
pubmed
15952212
uniprot
proteins
pubmed
15954104
uniprot
proteins
pubmed
15994881
uniprot
proteins
pubmed
15996214
uniprot
proteins
pubmed
16849369
uniprot
proteins
pubmed
17551008
uniprot
proteins
pubmed
17660464
uniprot
proteins
pubmed
17666888
uniprot
proteins
pubmed
17935238
uniprot
proteins
pubmed
17993581
uniprot
proteins
pubmed
18688874
uniprot
proteins
pubmed
19283857
uniprot
proteins
pubmed
19340074
uniprot
proteins
pubmed
19384972
uniprot
proteins
pubmed
19416251
uniprot
proteins
pubmed
19864490
uniprot
proteins
pubmed
21094651
uniprot
proteins
pubmed
23680645
uniprot
proteins
pubmed
26753910
uniprot
proteins
pubmed
28281779
uniprot
proteins
pubmed
30872814
uniprot
proteins
pubmed
31160754
uniprot
proteins
pubmed
9139825
uniprot
proteins
pubmed
9328482
uniprot
proteins
pubmed
9336442
uniprot
proteins
pubmed
9422505
uniprot
proteins
pubmed
9471561
uniprot
proteins
pubmed
9529365
uniprot
proteins
pubmed
9600457
uniprot
proteins
pubmed
9620796
uniprot
proteins
pubmed
9856479
uniprot
proteins
sequence_length
226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16849369, ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}; Multi-pass membrane protein {ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}. Cell junction, gap junction {ECO:0000269|PubMed:16849369, ECO:0000269|PubMed:17551008, ECO:0000269|PubMed:19340074, ECO:0000269|PubMed:19384972, ECO:0000269|PubMed:21094651, ECO:0000269|PubMed:26753910}. Note=Colocalizes with GJB4 at gap junction plaques in the cochlea. {ECO:0000250|UniProtKB:Q00977}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..40; /note="Helical"; /evidence="ECO:0000269|PubMed:26753910"; TRANSMEM 74..94; /note="Helical"; /evidence="ECO:0000269|PubMed:26753910"; TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000269|PubMed:26753910"; TRANSMEM 190..210; /note="Helical"; /evidence="ECO:0000269|PubMed:26753910
uniprot
proteins