GJB2 |
- 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)