GJB2

GENE INFORMATION

? »

Gene name

GJB2 (HGNC Symbol)

Synonyms

CX26, DFNA3, DFNB1, NSRD1

Description

Gap junction protein, beta 2, 26kDa (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

Chromosome

13

Cytoband

q12.11

Chromosome location (bp)

20187470 - 20192898

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165474 (version 78.38)

Entrez gene

2706

UniProt

P29033 (UniProt - Evidence at protein level)

neXtProt

NX_P29033

Antibodypedia

GJB2 antibodies
 

PROTEIN VIEW

? »
 
 
 
GJB2-001
 
GJB2-002
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB2-001 ENSP00000372299
ENST00000382848
P29033
Show all »
Show » Show » 226 26.2 No 4
GJB2-002 ENSP00000372295
ENST00000382844
P29033
Show all »
Show » Show » 226 26.2 No 4