INHBB

Chr 2

inhibin subunit beta B

NCBI Gene: 3625ENSG00000163083UniProt: P09529

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 the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Polymorphisms near this gene are associated with pre-eclampsia in female human patients. [provided by RefSeq, Aug 2016]

91
ClinVar variants
24
Pathogenic / LP
0.97
pLI score· haploinsufficient
0
Active trials
Clinical Summary— INHBB
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
24 Pathogenic / Likely Pathogenic· 63 VUS of 91 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.27LOEUF
pLI 0.973
Z-score 3.09
OE 0.00 (0.00–0.27)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.18Z-score
OE missense 0.59 (0.51–0.68)
135 obs / 227.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.27)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.59 (0.51–0.68)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 0 / 11.1Missense obs/exp: 135 / 227.8Syn Z: 0.22

ClinVar Variant Classifications

91 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic2
VUS63
Likely Benign2
Benign2
22
Pathogenic
2
Likely Pathogenic
63
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
22
0
22
Likely Pathogenic
0
0
2
0
2
VUS
0
56
7
0
63
Likely Benign
0
1
0
1
2
Benign
0
0
1
1
2
Total05732291

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

INHBB · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
INHIBIN, BETA B; INHBB
MIM #147390 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Tubule-derived INHBB promotes interstitial fibroblast activation and renal fibrosis.
Sun Y et al.·J Pathol
2022
Diabetes reshapes pancreatic cancer-associated endothelial niche by accelerating senescence.
Ling YW et al.·Nat Commun
2025
Human INHBB Gene Variant (c.1079T>C:p.Met360Thr) Alters Testis Germ Cell Content, but Does Not Impact Fertility in Mice.
Houston BJ et al.·Endocrinology
2022
Distinct transcriptional changes distinguish efficient and poor remyelination in multiple sclerosis.
Chen JQA et al.·Brain
2025
Construction of human pluripotent stem cell-derived testicular organoids and their use as humanized testis models for evaluating the effects of semaglutide.
Huang R et al.·Theranostics
2025Functional
Sox9/INHBB axis-mediated crosstalk between the hepatoma and hepatic stellate cells promotes the metastasis of hepatocellular carcinoma.
Chen Y et al.·Cancer Lett
2021
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.
Rezende RC et al.·Eur J Endocrinol
2025
INHBB Is a Novel Prognostic Biomarker Associated with Cancer-Promoting Pathways in Colorectal Cancer.
Yuan J et al.·Biomed Res Int
2020
Paracrine activin B-NF-κB signaling shapes an inflammatory tumor microenvironment in gastric cancer via fibroblast reprogramming.
Jin Y et al.·J Exp Clin Cancer Res
2023
Radiogenomics-based cancer prognosis in colorectal cancer.
Badic B et al.·Sci Rep
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
INHBB promotes liver metastasis of colorectal cancer via regulation of TGF-β/Smad signaling, EMT and anoikis resistance.
Yang N et al.·Tissue Cell
2026
High INHBB Expression Shapes an Immunosuppressive Tumor Microenvironment and Predicts Poor Prognosis in Colorectal Carcinoma.
Sawaguchi H et al.·Dig Dis Sci
2025
A Novel Mitochondria-Associated Programmed Cell Death-Related Prognostic Model and Validation of Oncogene INHBB in Colorectal Cancer.
Sun Y et al.·Int J Genomics
2025🔓 Open AccessFunctional
Multi-omics based consensus subtypes, development of prognostic signature, and identification of INHBB as a potential therapeutic target in colorectal cancer.
Wang X et al.·Funct Integr Genomics
2025
Inhibin subunit beta B (INHBB): an emerging role in tumor progression.
Liu Y et al.·J Physiol Biochem
2024
Top 5 resultsSearch Europe PMC ↗

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