AlphaFold predicted structure
WDR62 · O43379

Mean pLDDT
60.4/ 100
Low
1,518 residues
Confidence breakdown
- Very high(≥ 90)34%
- Confident(70–90)11%
- Low(50–70)5%
- Very low(< 50)50%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
WD repeat domain 62
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalCerebral vascular malformations
autosomal recessive primary microcephaly
hereditary disease
Intellectual disability
Skraban-Deardorff syndrome
Abnormality of the nervous system
Abnormality of neuronal migration
Abnormal cerebral morphology
atrial fibrillation
membranous glomerulonephritis
microcephaly 1, primary, autosomal recessive
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
WD repeat-containing protein 62
Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20729831, PubMed:20890278). Plays a role in mother-centriole-dependent centriole duplication; the function also seems to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806)
WDR62 · O43379

Mean pLDDT
60.4/ 100
Low
1,518 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0