Gene: GJB3 ENSG00000188910

Description

gap junction protein, beta 3, 31kDa [Source:HGNC Symbol;Acc:4285]

Gene Synonyms

CX31, DFNA2, DFNA2B, EKV

Location

GRCh37:CM000663.1

About this gene

This gene has 2 transcripts (splice variants), 17 paralogues and is associated with 13 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000373366.2	GJB3-002	2217	270aa	ENSP00000362464.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS384	A1YRJ5 O75712	NM_024009.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000373362.3	GJB3-001	1797	270aa	ENSP00000362460.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS384	A1YRJ5 O75712	NM_001005752.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary