CEP152

Chr 15q21.1

centrosomal protein 152

Aliases:: KIAA0912, SCKL5, MCPH9
MANE:: ENST00000380950.7

OMIM: 613529 ↗NCBI: 22995 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEP152 · O94986

v62025-08-01

Predicted Aligned Error matrix for CEP152 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.5/ 100

Low

1,710 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)25%
Low(50–70)10%
Very low(< 50)43%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Seckel syndrome 5
0.73
autosomal recessive primary microcephaly
0.68
microcephaly 9, primary, autosomal recessive
0.68
Seckel syndrome
0.65
neurodegenerative disease
0.51
microcephalic primordial dwarfism
0.44
hereditary disease
0.42
Primary microcephaly
0.37
microcephaly with or without short stature
0.37
Marfan syndrome
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosomal protein of 152 kDa

Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CPAP, 2 molecules involved in centriole formation (PubMed:20852615, PubMed:21059844). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615)