GJB3
entrez
2707
canonical
uniprot
O75712
canonical
ensembl
ENSG00000188910
resolver
ensp
ENSP00000362460
resolver
ensp
ENSP00000362464
resolver
ensp
ENSP00000572830
resolver
enst
ENST00000373362
resolver
enst
ENST00000373366
resolver
enst
ENST00000902771
resolver
genesymbol
GJB3
resolver
genesymbol_syn
CX31
resolver
hgnc
HGNC:4285
resolver
uniprot
B2R790
resolver
uniprot
Q2TAZ8
resolver
uniprot_entry
CXB3_HUMAN
resolver
uniprot_sec
B2R790
resolver
uniprot_sec
Q2TAZ8
resolver
amino_acid_sequence
MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI
uniprot
proteins
disease_involvement
DISEASE: Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269|PubMed:10594760, ECO:0000269|PubMed:10798362, ECO:0000269|PubMed:9843209}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. {ECO:0000269|PubMed:10587579, ECO:0000269|PubMed:9843210}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
30818
uniprot
proteins
protein_family
Beta-type (group I) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10587579
uniprot
proteins
pubmed
10594760
uniprot
proteins
pubmed
10757647
uniprot
proteins
pubmed
10790215
uniprot
proteins
pubmed
10798362
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19283857
uniprot
proteins
pubmed
9704026
uniprot
proteins
pubmed
9843209
uniprot
proteins
pubmed
9843210
uniprot
proteins
sequence_length
270
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
uniprot
proteins
transmembrane_region
TRANSMEM 21..40; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 76..98; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 127..149; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 188..210; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins