MANSC4

Chr 12

MANSC domain containing 4

NCBI Gene: 100287284ENSG00000205693UniProt: A6NHS7

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in epidermis development; epithelium development; and extracellular matrix organization. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -0.44
OE 1.21 (0.64–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.62Z-score
OE missense 0.66 (0.56–0.77)
115 obs / 175.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.21 (0.64–1.88)
0≤0.351.4
Missense OE?0.66 (0.56–0.77)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 6 / 5.0Missense obs/exp: 115 / 175.3Syn Z: 1.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MANSC4 · 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