CEP57

Chr 11q21

centrosomal protein 57

Aliases:: Translokin, TSP57, KIAA0092
MANE:: ENST00000325542.10

OMIM: 607951 ↗NCBI: 9702 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CEP57 · Q86XR8

v62025-08-01

Predicted Aligned Error matrix for CEP57 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.3/ 100

Confident

500 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)13%
Low(50–70)17%
Very low(< 50)22%

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
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

mosaic variegated aneuploidy syndrome 2
0.76
mosaic variegated aneuploidy syndrome
0.72
neurodegenerative disease
0.51
intelligence
0.36
hypothyroidism
0.36
mosaic variegated aneuploidy syndrome 1
0.35
thyroid gland disorder
0.33
Graves disease
0.32
Hashimoto thyroiditis
0.31
myxedema
0.30

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

Protein function (UniProt)

Centrosomal protein of 57 kDa

Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1