CEP295

Chr 11q21

centrosomal protein 295

MANE:: ENST00000325212.11

OMIM: 617728 ↗NCBI: 85459 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEP295 · Q9C0D2

v62025-08-01

Predicted Aligned Error matrix for CEP295 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

43.9/ 100

Very low

2,601 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)14%
Low(50–70)5%
Very low(< 50)73%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Seckel syndrome 11
0.59
Seckel syndrome
0.37
microcephalic primordial dwarfism
0.37
smoking initiation
0.28
adolescent idiopathic scoliosis
0.21
gestational diabetes
0.17
Meckel syndrome
0.11
synovium disorder
0.10
ciliopathy
0.01
Global developmental delay
0.01

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

Protein function (UniProt)

Centrosomal protein of 295 kDa

Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865, PubMed:38154379). Essential for the generation of the distal portion of new-born centrioles in a CPAP- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865). May be involved in ciliogenesis (PubMed:38154379)