C3ORF52
Chr 3chromosome 3 open reading frame 52
Also known as: HYPT15, TTMP
Located in plasma membrane. Implicated in hypotrichosis 15. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtHypotrichosis 15
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.79LOEUF
pLI 0.000
Z-score -0.06
OE 1.03 (0.55–1.79)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.86Z-score
OE missense 0.78 (0.66–0.93)
97 obs / 123.8 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?1.03 (0.55–1.79)
0≤0.351.4
Missense OE?0.78 (0.66–0.93)
0≤0.61.4
Synonymous OE?0.75
0≤1.21.6
LoF obs/exp: 6 / 5.9Missense obs/exp: 97 / 123.8Syn Z: 1.41
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C3ORF52 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools