C1QTNF6

Chr 22

C1q and TNF related 6

Also known as: CTFP6, CTRP6, ZACRP6

NCBI Gene: 114904ENSG00000133466UniProt: Q9BXI9OMIM: 614910

C1QTNF6 encodes a protein that enables identical protein binding and is predicted to form collagen trimers in the extracellular space. The gene shows very low constraint against loss-of-function variants (pLI = 0.000009, LOEUF = 1.623), suggesting high tolerance to complete loss of function. Based on the provided data, no specific diseases have been definitively associated with mutations in this gene.

OMIMResearchSummary from RefSeq
DNmechanismLOEUF 1.62
Clinical Summary— C1QTNF6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
18 unique Pathogenic / Likely Pathogenic· 56 VUS of 84 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
1.62LOEUF
pLI 0.000
Z-score 0.21
OE 0.92 (0.54–1.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.51Z-score
OE missense 0.89 (0.79–1.02)
168 obs / 187.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.92 (0.54–1.62)
0≤0.351.4
Missense OE0.89 (0.79–1.02)
0≤0.61.4
Synonymous OE0.85
0≤1.21.6
LoF obs/exp: 8 / 8.7Missense obs/exp: 168 / 187.8Syn Z: 1.08
DN
0.6938th %ile
GOF
0.6248th %ile
LOF
0.3745th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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

84 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic1
VUS56
Likely Benign3
Benign2
Conflicting1
17
Pathogenic
1
Likely Pathogenic
56
VUS
3
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
1
0
1
VUS
0
52
4
0
56
Likely Benign
0
3
0
0
3
Benign
0
0
0
2
2
Conflicting
—1
Total05522280

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

View in ClinVar →

Protein Context — Lollipop Plot

C1QTNF6 · 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
C1QTNF6 as a Novel Diagnostic and Prognostic Biomarker for Clear Cell Renal Cell Carcinoma.
Lin W et al.·DNA Cell Biol
2020
Prediction of prognosis and immunotherapy efficacy based on metabolic landscape in lung adenocarcinoma by bulk, single-cell RNA sequencing and Mendelian randomization analyses.
Liu Y et al.·Aging (Albany NY)
2024
Significance of macrophage infiltration in the prognosis of lung adenocarcinoma patients evaluated by scRNA and bulkRNA analysis.
Zhu H et al.·Front Immunol
2022Cohort
Association of C1QTNF6 gene polymorphism with risk and clinical features of type 1 diabetes in Chinese: implications for ZnT8A and beta-cell function.
Liu J et al.·Front Immunol
2025
CTRP6 rapidly responds to acute nutritional changes, regulating adipose tissue expansion and inflammation in mice.
Lahav R et al.·Am J Physiol Endocrinol Metab
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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