GJB6
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GJB6 (HGNC:4288) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gap junction protein beta 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA3, ED2
Alias symbols
EDH, HED, CX30
%HI
21.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.53(Read more about gnomAD LOEUF score)
Cytoband
13q12.11
Genomic Coordinates
GRCh37/hg19: chr13:20796101-20806458 NCBI Ensembl UCSC
GRCh38/hg38: chr13:20221962-20232319 NCBI Ensembl UCSC
MANE Select Transcript
NM_001110219.3 ENST00000647029.1 (Read more about MANE Select)
Function
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33284
ClinGen Curation ID:
CCID:007212
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/30/2014

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Mutations in GJB6 have been associated with nonsyndromic hearing loss (both autosomal recessive, autosomal dominant, and digenic inheritance with mutations in GJB2), as well as Clouston syndrome (autosomal dominant). Autosomal recessive nonsyndromic hearing loss (DFNB1): A recurrent ~342kb deletion of GJB6 has been noted amongst individuals with phenotypes consistent with DFNB1 (PMID: 11807148). This deletion has been seen in individuals of Spanish, French, and Israeli ancestry (OMIM 604418). Affected individuals have either been homozygous for the deletion, compound heterozygotes for other GJB6 mutations, or heterozygous for a GJB2 mutation. See GeneReviews for more information: http://www.ncbi.nlm.nih.gov/books/NBK1272/ Autosomal dominant nonsyndromic hearing loss (DFNA3B): At this time, only two variants in GJB6 have been reported as pathogenic for autosomal dominant nonsyndromic hearing loss - p.Thr5Met and p.Ala40Val (Grifa et al. 1999, Yang et al. 2007). These are believed to act in a dominant negative manner (PMID: 10471490). See GeneReviews for more information: http://www.ncbi.nlm.nih.gov/books/NBK1536/ Clouston syndrome: Four missense changes in GJB6 have been reported in association with Clouston syndrome, an autosomal dominant hidrotic ectodermal dysplasia syndrome. These changes are believed to cause this phenotype through a gain-of-function phenotype (PMID: 15213106). See GeneReviews for more information: http://www.ncbi.nlm.nih.gov/books/NBK1200/

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000013.10) (NC_000013.11)