Gene: GJB2 ENSG00000165474

Description

gap junction protein, beta 2, 26kDa [Source:HGNC Symbol;Acc:4284]

Gene Synonyms

CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK

Location

GRCh37:CM000675.1

About this gene

This gene has 2 transcripts (splice variants), 17 paralogues and is associated with 21 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000382844.1	GJB2-002	2309	226aa	ENSP00000372295.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9290	H9U1J4 P29033	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000382848.4	GJB2-001	2250	226aa	ENSP00000372299.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9290	H9U1J4 P29033	NM_004004.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary