Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2703
MIM: 600897
HGNC: 4281
Ensembl: ENSG00000121634
Variants:
dbSNP: 2703
ClinVar: 2703
TCGA: ENSG00000121634
COSMIC: GJA8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000121634 | ENST00000369235 | P48165 |
| ENSG00000121634 | ENST00000369235 | X5D7G1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38052906 | 2024 | Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome. | 2 |
| 38145302 | 2024 | Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43. | 1 |
| 38052906 | 2024 | Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome. | 2 |
| 38145302 | 2024 | Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43. | 1 |
| 36262071 | 2023 | Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait. | 0 |
| 36262071 | 2023 | Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait. | 0 |
| 35120923 | 2022 | Cataract-linked serine mutations in the gap junction protein connexin50 expose a sorting signal that promotes its lysosomal degradation. | 3 |
| 35726576 | 2022 | Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract. | 0 |
| 35980487 | 2022 | Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies. | 0 |
| 35120923 | 2022 | Cataract-linked serine mutations in the gap junction protein connexin50 expose a sorting signal that promotes its lysosomal degradation. | 3 |
| 35726576 | 2022 | Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract. | 0 |
| 35980487 | 2022 | Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies. | 0 |
| 34226295 | 2021 | Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance. | 8 |
| 34762867 | 2021 | Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant. | 8 |
| 34226295 | 2021 | Aging-dependent loss of GAP junction proteins Cx46 and Cx50 in the fiber cells of human and mouse lenses accounts for the diminished coupling conductance. | 8 |
Citation
Dessen P
GJA8 (gap junction protein alpha 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63795/gja8-(gap-junction-protein-alpha-8)
