C2CD3

Chr 11

C2 domain containing 3 centriole elongation regulator

Also known as: OFD14

NCBI Gene: 26005ENSG00000168014UniProt: Q4AC94

This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOrofaciodigital syndrome 14

Clinical highlights

Gene-disease validity (ClinGen)
orofaciodigital syndrome type 14 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
LOF
Mechanism· G2P
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GeneReview available — C2CD3
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 4.40
OE 0.50 (0.40–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.53Z-score
OE missense 0.95 (0.90–1.00)
980 obs / 1028.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.40–0.64)
0≤0.351.4
Missense OE?0.95 (0.90–1.00)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 46 / 91.4Missense obs/exp: 980 / 1028.3Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C2CD3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients