CCDC7

Chr 10

coiled-coil domain containing 7

Also known as: BIOT2, BioT2-A, BioT2-B, BioT2-C, C10orf68

NCBI Gene: 79741ENSG00000216937UniProt: Q96M83

The protein encoded by this gene may be involved in cellular processes related to tumorigenesis, though its specific function remains unclear. This gene is not well-constrained against loss-of-function variants (LOEUF 0.982), suggesting tolerance to protein-truncating mutations. Currently, no established Mendelian diseases have been definitively linked to mutations in CCDC7 in pediatric populations.

Summary from UniProt
Research Assistant →
0
Active trials
2
Pubs (1 yr)
11
P/LP submissions
0%
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— CCDC7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 66 VUS of 100 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.69 (0.50–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.35Z-score
OE missense 0.93 (0.83–1.05)
209 obs / 223.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.69 (0.50–0.98)
0≤0.351.4
Missense OE0.93 (0.83–1.05)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 23 / 33.2Missense obs/exp: 209 / 223.6Syn Z: -0.85
DN
0.6938th %ile
GOF
0.6737th %ile
LOF
0.3550th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS66
Likely Benign7
Benign1
10
Pathogenic
1
Likely Pathogenic
66
VUS
7
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
1
54
11
0
66
Likely Benign
0
6
1
0
7
Benign
0
0
1
0
1
Total16024085

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CCDC7 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Induction of ferroptosis in prostate cancer by CCDC719-13 via TRIM21-mediated ubiquitination of SLC7A11.
Cheng B et al.·Cell Death Differ
2025
Rare Mutations in CCDC7 Contribute to Early-Onset Preeclampsia by Inhibiting Trophoblast Migration and Invasion.
Tan H et al.·J Pers Med
2024Open Access
A protein-encoding CCDC7 circular RNA inhibits the progression of prostate cancer by up-regulating FLRT3.
Wang Q et al.·NPJ Precis Oncol
2024Open Access
CCDC7 Activates Interleukin-6 and Vascular Endothelial Growth Factor to Promote Proliferation via the JAK-STAT3 Pathway in Cervical Cancer Cells [Retraction].
·Onco Targets Ther
2023Open Access
CCDC7 Activates Interleukin-6 and Vascular Endothelial Growth Factor to Promote Proliferation via the JAK-STAT3 Pathway in Cervical Cancer Cells.
Zhou C et al.·Onco Targets Ther
2020Open Access
Top 5 resultsSearch Europe PMC ↗

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