C1QL4

Chr 12

complement C1q like 4

Also known as: C1QTNF11, CTRP11

NCBI Gene: 338761ENSG00000186897UniProt: Q86Z23

Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of ERK1 and ERK2 cascade; negative regulation of fat cell differentiation; and negative regulation of fibroblast proliferation. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
Multiple*
Mechanism· predicted
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?
0.90LOEUF
pLI 0.424
Z-score 1.73
OE 0.19 (0.07–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.81Z-score
OE missense 0.81 (0.70–0.94)
117 obs / 144.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.07–0.90)
0≤0.351.4
Missense OE?0.81 (0.70–0.94)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 1 / 5.3Missense obs/exp: 117 / 144.4Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1QL4 · 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 →

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