CFAP52

Chr 17p13.1

cilia and flagella associated protein 52

Aliases:: WDRPUH, FLJ37528
MANE:: ENST00000352665.10

OMIM: 609804 ↗NCBI: 146845 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFAP52 · Q8N1V2

v62025-08-01

Predicted Aligned Error matrix for CFAP52 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.4/ 100

Very high

620 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)9%
Low(50–70)1%
Very low(< 50)1%

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
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

heterotaxy, visceral, 9, autosomal, with male infertility
0.61
Situs inversus totalis
0.45
visceral heterotaxy
0.37
situs inversus
0.34
Oculomotor apraxia
0.12
spondylolisthesis
0.11
musculoskeletal system disorder
0.11
spermatocele
0.11
contracture
0.11
upper extremity fracture
0.09

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

Protein function (UniProt)

Cilia- and flagella-associated protein 52

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth and/or survival (PubMed:15967112)