CCDC88C

Chr 14q32.11-q32.12

coiled-coil and HOOK domain protein 88C

Aliases:: DAPLE, HkRP2, SCA40
MANE:: ENST00000389857.11

OMIM: 611204 ↗NCBI: 440193 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CCDC88C · Q9P219

v62025-08-01

Predicted Aligned Error matrix for CCDC88C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

2,028 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)44%
Low(50–70)8%
Very low(< 50)34%

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
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Spinocerebellar ataxia type 40
0.68
congenital hydrocephalus
0.64
breast carcinoma
0.48
Hydrocephalus
0.41
prostate carcinoma
0.40
congenital non-communicating hydrocephalus
0.37
luminal A breast carcinoma
0.34
spastic ataxia
0.33
glomerulonephritis
0.31
pneumococcal pneumonia
0.31

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

Protein function (UniProt)

Protein Daple

Required for activation of guanine nucleotide-binding proteins (G proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426)