• 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GJB2 (HGNC:4284) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gap junction protein beta 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB1, DFNA3
Alias symbols
CX26, NSRD1
%HI
20.16(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.98(Read more about gnomAD LOEUF score)
Cytoband
13q12.11
Genomic Coordinates
GRCh37/hg19: chr13:20761609-20767077 NCBI Ensembl UCSC
GRCh38/hg38: chr13:20187470-20192938 NCBI Ensembl UCSC
MANE Select Transcript
NM_004004.6 ENST00000382848.5 (Read more about MANE Select)
Function
Structural component of gap junctions (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910, PubMed:16849369, PubMed:19384972). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:21094651, PubM... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19585
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence Comments:
GJB2 is associated with both autosomal recessive and autosomal dominant nonsydromic hearing loss, as well as a number of autosomal dominant deafness/skin disorders (see loss phenotype OMIM ID). Mutations seen in the AD forms of disease are missense mutations and are believed to act in a dominant negative action. A discussion of this can be found in PMID:19939300 and The GeneReviews for DFNA3 (NBK1536).

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)