SERHL2

Chr 22

serine hydrolase like 2

Also known as: dJ222E13.1

NCBI Gene: 253190ENSG00000183569UniProt: Q9H4I8OMIM: 619045

Predicted to enable hydrolase activity. Predicted to be located in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -2.04
OE 1.67 (1.11–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.02Z-score
OE missense 1.53 (1.35–1.74)
176 obs / 114.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.67 (1.11–1.95)
0≤0.351.4
Missense OE?1.53 (1.35–1.74)
0≤0.61.4
Synonymous OE?1.26
0≤1.21.6
LoF obs/exp: 18 / 10.8Missense obs/exp: 176 / 114.9Syn Z: -1.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SERHL2 · 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