Gene: GJB6 ENSG00000121742

Description

gap junction protein, beta 6, 30kDa [Source:HGNC Symbol;Acc:4288]

Gene Synonyms

CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2

Location

Chromosome 13: 20,796,110-20,806,534 reverse strand.

GRCh37:CM000675.1

About this gene

This gene has 4 transcripts (splice variants), 17 paralogues and is associated with 10 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000356192.6	GJB6-004	2131	261aa	ENSP00000348521.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9291	O95452	NM_001110219.2	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,
ENST00000400066.3	GJB6-003	1927	261aa	ENSP00000382939.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9291	O95452	NM_001110220.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000241124.6	GJB6-001	1808	261aa	ENSP00000241124.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9291	O95452	NM_006783.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000400065.3	GJB6-002	1805	261aa	ENSP00000382938.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9291	O95452	NM_001110221.2	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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Gene: GJB6 ENSG00000121742

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Gene: GJB6 ENSG00000121742

Summary