AlphaFold predicted structure
GJA8 · P48165
Mean pLDDT
64.9/ 100
Low
433 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)18%
- Low(50–70)4%
- Very low(< 50)48%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GJA8
Chr 1q21.2gap junction protein alpha 8
- Aliases:
- CX50
- MANE:
- ENST00000369235.2
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCorneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Cataract-microcornea syndrome
0.83cataract - microcornea syndrome
0.63Developmental cataract
0.55hereditary disease
0.50cataract
0.41early-onset nuclear cataract
0.40Total congenital cataract
0.40Cataract with Y-shaped suture opacities
0.40pulverulent cataract
0.40Isolated congenital sclerocornea
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Gap junction alpha-8 protein
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)
Diseases associated with GJA8
Curated MONDO disease pages that list GJA8 among their top associated genes.