INHBA Gene: Inhibin Subunit Beta A
A key regulator of TGF-β signaling, involved in cell growth, differentiation, and cancer pathogenesis.
Gene Information Card
| Symbol | INHBA |
|---|---|
| Full Name | Inhibin Subunit Beta A |
| Gene Type | Protein coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 3624 ncbi.nlm.nih.gov/gene/3624 |
| Ensembl ID | ENSG00000122641 |
| UniProt ID | P08476 |
| OMIM ID | 147290 |
| HGNC ID | 6066 |
| Aliases | INHBA, activin A, EDF, FRP, inhibin beta A |
Description
The INHBA gene encodes the inhibin beta A subunit, which dimerizes to form activin A, a member of the TGF-β superfamily. Activin A regulates diverse biological processes including cell proliferation, differentiation, apoptosis, immune response, and embryonic development. Dysregulation of INHBA expression and mutations are implicated in various cancers, reproductive disorders, and fibrotic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Overexpression of activin A promotes tumor growth and metastasis via SMAD signaling | PMID: 25624453; COSMIC |
| Prostate cancer | INHBA upregulation correlates with aggressive disease and poor prognosis | PMID: 29127120; ClinVar |
| Pulmonary arterial hypertension | Increased activin A levels drive vascular remodeling | PMID: 30266946; OMIM |
| Premature ovarian failure | Loss-of-function mutations disrupt inhibin/activin balance | PMID: 19578030; OMIM |
| Endometriosis | Elevated INHBA expression in ectopic endometrial tissue | PMID: 23548206; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | High |
| Testis | 8.3 | Medium |
| Placenta | 15.1 | High |
| Prostate | 6.7 | Medium |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.9 | Cervical cancer cell line; high expression |
| MCF7 | 7.5 | Breast cancer cell line; moderate expression |
| A549 | 5.1 | Lung cancer cell line; low expression |
| K562 | 3.2 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104G>A (p.Arg35His) | Missense | 0.01% | Reduced activin A signaling; associated with reproductive disorders |
| c.487C>T (p.Arg163Trp) | Missense | 0.005% | Impaired dimerization; linked to ovarian cancer |
| c.763_764insA | Frameshift | <0.001% | Loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, reducing activin A production and TGF-β signaling.
Gain of Function (GOF)
Missense mutations that enhance receptor binding or stability, leading to hyperactive SMAD signaling in cancers.
Dominant Negative (DN)
Mutations that disrupt dimerization, interfering with wild-type subunit function and altering ligand-receptor interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Activin A signaling (Reactome: R-HSA-1502540)
• Regulation of apoptosis by parathyroid hormone-related protein (WikiPathways: WP2032)
Protein Summary
The INHBA protein (inhibin beta A) is a 426-amino acid precursor that undergoes proteolytic processing to yield the mature 116-amino acid subunit. It forms homodimers (activin A) or heterodimers with inhibin alpha (inhibin A). Activin A binds to type II receptors (ACVR2A/B) and type I receptors (ACVR1B/ALK4), activating SMAD2/3 transcription factors. The protein is secreted and plays critical roles in reproduction, inflammation, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INHBA Knockout HEK293 Cell Line | EDJ-KQ385 | Human | 3624 | Details Get a Quote |
| INHBA Knockout HeLa Cell Line | EDJ-KQ53661 | Human | 3624 | Details Get a Quote |
| INHBA Knockout A-549 Cell Line | EDJ-KQ62135 | Human | 3624 | Details Get a Quote |
| INHBA Knockout HCT 116 Cell Line | EDJ-KQ70625 | Human | 3624 | Details Get a Quote |
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