CCDC78

Chr 16p13.3

coiled-coil domain containing 78

Aliases:: FLJ34512
MANE:: ENST00000345165.10

OMIM: 614666 ↗NCBI: 124093 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CCDC78 · A2IDD5

v62025-08-01

Predicted Aligned Error matrix for CCDC78 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.7/ 100

Low

438 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)20%
Low(50–70)11%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arthrogryposis
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

congenital myopathy with internal nuclei and atypical cores
0.50
neurodegenerative disease
0.22
hereditary disease
0.19
centronuclear myopathy
0.16
bone fracture
0.15
atrial fibrillation
0.12
heart failure
0.06
hyperprolinemia type 1
0.04
22q11.2 deletion syndrome
0.04
proteinuria, chronic benign
0.04

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

Protein function (UniProt)

Coiled-coil domain-containing protein 78

Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome