CCDC8

Chr 19q13.32

coiled-coil domain containing 8 subunit of 3M complex

Aliases:: DKFZp564K0322, 3M3, PPP1R20, p90
MANE:: ENST00000307522.5

OMIM: 614145 ↗NCBI: 83987 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCDC8 · Q9H0W5

v62025-08-01

Predicted Aligned Error matrix for CCDC8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

46.4/ 100

Very low

538 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)7%
Low(50–70)19%
Very low(< 50)74%

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
IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

3M syndrome
0.76
3-M syndrome
0.66
hereditary disease
0.19
Immunodeficiency
0.12
urinary bladder cancer
0.08
urinary bladder carcinoma
0.08
dementia
0.07
cancer
0.07
Oral ulcer
0.07
lung carcinoma
0.07

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

Protein function (UniProt)

Coiled-coil domain-containing protein 8

Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695)