C1QTNF6

Chr 22

C1q and TNF related 6

Also known as: CTFP6, CTRP6, ZACRP6

NCBI Gene: 114904ENSG00000133466UniProt: Q9BXI9

Enables identical protein binding activity. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— C1QTNF6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.51Z-score
OE missense 0.89 (0.79–1.02)
168 obs / 187.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.92 (0.54–1.62)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.79–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.85
0≤1.21.6
LoF obs/exp: 8 / 8.7Missense obs/exp: 168 / 187.8Syn Z: 1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
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
C1QTNF6 as a Novel Diagnostic and Prognostic Biomarker for Clear Cell Renal Cell Carcinoma.
Lin W et al.·DNA Cell Biol
2020
C1QTNF6 Overexpression Acts as a Predictor of Poor Prognosis in Bladder Cancer Patients.
Zhu X et al.·Biomed Res Int
2020Cohort
[Construction and Validation of A Prognostic Model for Lung Adenocarcinoma 
Based on Ferroptosis-related Genes].
Zhang Z et al.·Zhongguo Fei Ai Za Zhi
2025Functional
Significance of macrophage infiltration in the prognosis of lung adenocarcinoma patients evaluated by scRNA and bulkRNA analysis.
Zhu H et al.·Front Immunol
2022Cohort
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
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
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
Jin Y et al.·N Engl J Med
2010
Oncogenic RBM19 modulated by MAX-mediated allelic transcription regulation in hepatocellular carcinoma progression.
Zheng Y et al.·Arch Biochem Biophys
2025
Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.
Eyre S et al.·Arthritis Res Ther
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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