C2CD3

Chr 11q13.4

C2 domain containing 3 centriole elongation regulator

Aliases:: DKFZP586P0123
MANE:: ENST00000334126.12

OMIM: 615944 ↗NCBI: 26005 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

C2CD3 · Q4AC94

v62025-08-01

Predicted Aligned Error matrix for C2CD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.1/ 100

Low

2,353 residues

Confidence breakdown

Very high(≥ 90)3%
Confident(70–90)36%
Low(50–70)11%
Very low(< 50)50%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

orofaciodigital syndrome type 14
0.80
orofaciodigital syndrome I
0.60
Jeune syndrome
0.54
Short rib-polydactyly syndrome, Verma-Naumoff type
0.50
Orofaciodigital syndrome type 1
0.50
asphyxiating thoracic dystrophy 3
0.50
Joubert syndrome
0.47
orofaciodigital syndrome
0.37
Ankle flexion contracture
0.33
Rudimentary fibula
0.33

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

Protein function (UniProt)

C2 domain-containing protein 3

Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3