INHBA

Chr 7

inhibin subunit beta A

Also known as: EDF, FRP

NCBI Gene: 3624ENSG00000122641UniProt: P08476

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. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]

67
ClinVar variants
28
Pathogenic / LP
0.98
pLI score· haploinsufficient
3
Active trials
Clinical Summary— INHBA
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
28 Pathogenic / Likely Pathogenic· 38 VUS of 67 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available

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.
0.25LOEUF
pLI 0.980
Z-score 3.20
OE 0.00 (0.00–0.25)
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.
2.50Z-score
OE missense 0.56 (0.49–0.64)
142 obs / 254.2 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 (0.00–0.25)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.56 (0.49–0.64)
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.1.20
0≤1.21.6
LoF obs/exp: 0 / 11.9Missense obs/exp: 142 / 254.2Syn Z: -1.63

ClinVar Variant Classifications

67 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic1
VUS38
Benign1
27
Pathogenic
1
Likely Pathogenic
38
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
1
0
1
VUS
0
36
2
0
38
Likely Benign
0
0
0
0
0
Benign
0
0
1
0
1
Total03631067

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

View in ClinVar →

Protein Context — Lollipop Plot

INHBA · 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 A; INHBA
MIM #147290 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Single-Cell Atlas of Lineage States, Tumor Microenvironment, and Subtype-Specific Expression Programs in Gastric Cancer.
Kumar V et al.·Cancer Discov
2022
Inhibin beta A drives colorectal cancer progression through macrophage M2 polarization and mitochondria-dependent ferroptosis suppression.
Li W et al.·Signal Transduct Target Ther
2025
Single-cell transcriptomics reveal distinct immune-infiltrating phenotypes and macrophage-tumor interaction axes among different lineages of pituitary neuroendocrine tumors.
Lin S et al.·Genome Med
2024
Using Machine Learning Methods to Study Colorectal Cancer Tumor Micro-Environment and Its Biomarkers.
Wei W et al.·Int J Mol Sci
2023
The YTHDF3-DT/miR-301a-3p /INHBA axis attenuates autophagy-dependent ferroptosis in lung adenocarcinoma.
Peng X et al.·Cancer Lett
2025
Single-cell profiling uncovers synovial fibroblast subpopulations associated with chondrocyte injury in osteoarthritis.
Liu Z et al.·Front Endocrinol (Lausanne)
2024
EGFR-mediated local invasiveness and response to Cetuximab in head and neck cancer.
Zhou J et al.·Mol Cancer
2025
Activin A marks a novel progenitor cell population during fracture healing and reveals a therapeutic strategy.
Yao L et al.·Elife
2023
Identification of prognosis and therapy related intratumoral microbiome and immune signatures in gastric cancer.
Jin P et al.·Front Immunol
2025
DNA hypomethylation of INHBA promotes tumor progression and predicts prognosis and immune status of gastric cancer.
Li X et al.·Hereditas
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
AsthmaRespiratory Disease

Airway Remodeling and Rhinovirus in Asthmatics

RECRUITING
NCT05775952University of CalgaryStarted 2011-09-01
HRV-39
Heart FailureMuscle Atrophy

A SkeleTal Muscle Recovery Intervention With Dietary Protein in Heart Failure

RECRUITING
NCT05627440Phase NATufts Medical CenterStarted 2023-04-24
Ensure Max ProteinEnsure Original
Healthy Adults

Safety and Efficacy of Klotho and Follistatin Gene Therapy

RECRUITING
NCT07285629Phase EARLY_PHASE1MinicircleStarted 2025-12-16
Follistatin and klotho gene therapy

External Resources

Links to major genomics databases and tools