CCDC180

Chr 9

coiled-coil domain containing 180

Also known as: C9orf174, CFAP76, FAP76

NCBI Gene: 100499483ENSG00000197816UniProt: Q9P1Z9OMIM: 621141

The protein encoded by this gene contains a coiled-coil domain and undergoes alternative splicing to produce multiple isoforms. This gene is not highly constrained against loss-of-function variants and currently has no established Mendelian disease associations in pediatric neurogenetics, though a polymorphism has been linked to increased susceptibility to Behcet's Disease in adults.

OMIMResearchSummary from RefSeq
GOFmechanismLOEUF 0.93
Clinical Summary— CCDC180
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
2 unique Pathogenic / Likely Pathogenic· 173 VUS of 200 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
0.93LOEUF
pLI 0.000
Z-score 2.18
OE 0.76 (0.63–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.78Z-score
OE missense 0.93 (0.88–0.98)
854 obs / 920.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.76 (0.63–0.93)
0≤0.351.4
Missense OE0.93 (0.88–0.98)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 75 / 98.3Missense obs/exp: 854 / 920.5Syn Z: 0.17
DN
0.5870th %ile
GOF
0.6736th %ile
LOF
0.4134th %ile

The highest-scoring mechanism for this gene is gain-of-function.

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

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2
VUS173
Likely Benign18
Benign1
Conflicting4
2
Pathogenic
173
VUS
18
Likely Benign
1
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
2
0
2
Likely Pathogenic
0
0
0
0
0
VUS
0
171
2
0
173
Likely Benign
0
14
0
4
18
Benign
0
1
0
0
1
Conflicting
—4
Total018644198

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

View in ClinVar →

Protein Context — Lollipop Plot

CCDC180 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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