GJB6

GENE INFORMATION

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Gene name

GJB6 (HGNC Symbol)

Synonyms

CX30, DFNA3, ED2, EDH, HED

Description

Gap junction protein, beta 6, 30kDa (HGNC Symbol)

Entrez gene summary

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

Chromosome

13

Cytoband

q12.11

Chromosome location (bp)

20221971 - 20232395

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000121742 (version 78.38)

Entrez gene

10804

UniProt

O95452 (UniProt - Evidence at protein level)

neXtProt

NX_O95452

Antibodypedia

GJB6 antibodies
 

PROTEIN VIEW

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GJB6-001
 
GJB6-002
 
GJB6-003
 
GJB6-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB6-001 ENSP00000241124
ENST00000241124
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-002 ENSP00000382938
ENST00000400065
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-003 ENSP00000382939
ENST00000400066
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-004 ENSP00000348521
ENST00000356192
O95452
Show all »
Show » Show » 261 30.4 No 4