CEP120

Chr 5q23.2

centrosomal protein 120

Aliases:: FLJ36090
MANE:: ENST00000306467.10

OMIM: 613446 ↗NCBI: 153241 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CEP120 · Q8N960

v62025-08-01

Predicted Aligned Error matrix for CEP120 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.4/ 100

Confident

986 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)24%
Low(50–70)7%
Very low(< 50)19%

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
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Rare syndromic craniosynostosis or isolated multisuture synostosis

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Disease associations (Open Targets)

Jeune syndrome
0.73
Joubert syndrome
0.71
short-rib thoracic dysplasia 13 with or without polydactyly
0.70
Joubert syndrome 31
0.62
neurodegenerative disease
0.53
Abnormality of the skeletal system
0.47
ciliopathy
0.47
Joubert syndrome with ocular defect
0.46
type 2 diabetes mellitus
0.45
atrial fibrillation
0.42

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

Protein function (UniProt)

Centrosomal protein of 120 kDa

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865)

Curated MONDO disease pages that list CEP120 among their top associated genes.

ciliopathyRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with CEP120