GJA8
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GJA8 (HGNC:4281) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gap junction protein alpha 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CAE1, CZP1, CAE
Alias symbols
CX50
%HI
52.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.31(Read more about gnomAD LOEUF score)
Cytoband
1q21.2
Genomic Coordinates
GRCh37/hg19: chr1:147374921-147381396 NCBI Ensembl UCSC
GRCh38/hg38: chr1:147902795-147914486 NCBI Ensembl UCSC
MANE Select Transcript
NM_005267.5 ENST00000369235.2 (Read more about MANE Select)
Function
Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). 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 (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179). {ECO:0000250|UniProtKB:P55917, ECO:0000269|PubMed:16397066, ECO:0000269|PubMed:18006672, ECO:00002... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1479
ClinGen Curation ID:
CCID:007210
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 18006672
    Arora 2008: novel GJA8 mutation, Cx50D47N, segregated in family with congenital nuclear pulverulent cataracts; functional studies in HeLa cells and xenopus oocytes suggest this mutation acts as a loss-of-function mutation.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)