Gene: GJB1 ENSG00000169562

Description

gap junction protein, beta 1, 32kDa [Source:HGNC Symbol;Acc:4283]

Gene Synonyms

CMTX, CMTX1, CX32

Location

GRCh37:CM000685.1

About this gene

This gene has 4 transcripts (splice variants), 17 paralogues and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000374022.3	GJB1-001	1904	283aa	ENSP00000363134.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	NM_001097642.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000361726.6	GJB1-002	1637	283aa	ENSP00000354900.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	NM_000166.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000374029.1	GJB1-003	1587	283aa	ENSP00000363141.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14408	C9JWU8 P08034	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000447581.1	GJB1-004	484	84aa	ENSP00000407223.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JWU8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary