AlphaFold predicted structure
CC2D2A · Q9P2K1
Mean pLDDT
69.1/ 100
Low
1,620 residues
Confidence breakdown
- Very high(≥ 90)12%
- Confident(70–90)48%
- Low(50–70)16%
- Very low(< 50)25%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CC2D2A
Chr 4p15.32coiled-coil and C2 domain containing 2A
- Aliases:
- KIAA1345, MKS6, JBTS9
- MANE:
- ENST00000424120.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHydrocephalus
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
+20 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Joubert syndrome 9
0.84Joubert syndrome with hepatic defect
0.81Meckel syndrome, type 6
0.80Meckel syndrome
0.77Joubert syndrome
0.76retinitis pigmentosa 93
0.70Joubert syndrome with oculorenal defect
0.68ciliopathy
0.57hereditary disease
0.54Retinal dystrophy
0.52
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Coiled-coil and C2 domain-containing protein 2A
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)
Diseases associated with CC2D2A
Curated MONDO disease pages that list CC2D2A among their top associated genes.