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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)