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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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,

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