INHBC

Chr 12

inhibin subunit beta C

Also known as: IHBC

NCBI Gene: 3626ENSG00000175189UniProt: P55103OMIM: 601233

This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.98
OE 0.69 (0.40–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.01Z-score
OE missense 0.80 (0.70–0.91)
160 obs / 200.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.40–1.25)
0≤0.351.4
Missense OE?0.80 (0.70–0.91)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 8 / 11.6Missense obs/exp: 160 / 200.3Syn Z: 1.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

INHBC · 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