CCDC32

Chr 15q15.1

coiled-coil domain containing 32

Aliases:: MGC20481
MANE:: ENST00000416810.7

OMIM: 618941 ↗NCBI: 90416 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCDC32 · Q9BV29

v62025-08-01

Predicted Aligned Error matrix for CCDC32 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.8/ 100

Low

185 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)35%
Low(50–70)28%
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
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cardiofacioneurodevelopmental syndrome
0.73
complex neurodevelopmental disorder
0.37
prostate carcinoma
0.12
Abnormality of refraction
0.11
thyroid gland carcinoma
0.09
hypertensive disorder
0.09
essential hypertension
0.09
placental retention
0.08
acute myeloid leukemia
0.07
asthma
0.05

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

Protein function (UniProt)

Coiled-coil domain-containing protein 32

Regulates clathrin-mediated endocytsois of cargos such as transferrin probably through the association and modulation of adaptor protein complex 2 (AP-2) (PubMed:33859415). Has a role in ciliogenesis (By similarity). Required for proper cephalic and left/right axis development (PubMed:32307552)