AlphaFold predicted structure
GJA3 · Q9Y6H8
Mean pLDDT
67.8/ 100
Low
435 residues
Confidence breakdown
- Very high(≥ 90)30%
- Confident(70–90)21%
- Low(50–70)12%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GJA3
Chr 13q12.11gap junction protein alpha 3
- Aliases:
- CX46
- MANE:
- ENST00000241125.4
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 unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Posterior polar cataract
0.83early-onset non-syndromic cataract
0.70Developmental cataract
0.49cataract
0.40early-onset nuclear cataract
0.40pulverulent cataract
0.39early-onset posterior polar cataract
0.37congenital cataracts-facial dysmorphism-neuropathy syndrome
0.34Congenital cataracts - facial dysmorphism - neuropathy
0.34ulcerative colitis
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Gap junction alpha-3 protein
Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662)
Diseases associated with GJA3
Curated MONDO disease pages that list GJA3 among their top associated genes.