INHBB Gene (Inhibin Subunit Beta B)
Role in Reproductive Endocrinology and Tumor Suppression
Gene Information Card
| Symbol | INHBB |
|---|---|
| Full Name | Inhibin Subunit Beta B |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.2 |
| NCBI Gene ID | 3624 ncbi.nlm.nih.gov/gene/3624 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | P09529 |
| OMIM ID | 147390 |
| HGNC ID | 6068 |
| Aliases | Activin beta B chain, INHBBP1 |
Description
The INHBB gene encodes the beta B subunit of inhibin and activin, dimeric glycoproteins belonging to the TGF-beta superfamily. Inhibins (alpha:beta dimers) suppress follicle-stimulating hormone (FSH) secretion, while activins (beta:beta dimers) stimulate FSH release. The beta B subunit can dimerize with the alpha subunit (inhibin B) or with another beta subunit (activin B). INHBB is expressed in gonads, pituitary, placenta, and various other tissues, playing critical roles in reproductive function, embryonic development, and cell growth regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian Granulosa Cell Tumor | Altered INHBB expression contributes to tumorigenesis via disrupted activin/inhibin signaling | PMID: 10647931; COSMIC |
| Premature Ovarian Failure | Mutations in INHBB may impair inhibin B production, leading to elevated FSH and ovarian dysfunction | PMID: 15331584; ClinVar |
| Prostate Cancer | Dysregulated activin B signaling promotes tumor progression and metastasis | PMID: 20053711; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Placenta | 6.5 | Low |
| Pituitary | 4.2 | Low |
| Endometrium | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| KGN (Granulosa cell tumor) | 15.2 | High expression; model for ovarian granulosa cell tumors |
| LNCaP (Prostate cancer) | 7.8 | Moderate expression; androgen-sensitive |
| HepG2 (Hepatocellular carcinoma) | 2.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107G>A (p.Arg36His) | Missense | Rare | Reported in premature ovarian failure; may reduce inhibin B secretion |
| c.538C>T (p.Arg180Trp) | Missense | Rare | Observed in ovarian granulosa cell tumors; potential loss of function |
| c.788_789insA (p.Tyr263*) | Frameshift/nonsense | Very rare | Truncating mutation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations in INHBB reduce or abolish beta B subunit production, impairing inhibin B and activin B dimer formation, leading to disrupted FSH regulation and gonadal dysfunction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in INHBB.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by forming non-functional dimers with wild-type subunits, though evidence is limited.
View complete mutation data:
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG hsa04350)
• Activin/inhibin signaling (Reactome R-HSA-1181150)
• Regulation of FSH secretion (Reactome R-HSA-376176)
Protein Summary
The INHBB protein (precursor 407 amino acids, mature 115 amino acids) is a secreted subunit that forms disulfide-linked dimers: inhibin B (alpha:betaB) and activin B (betaB:betaB). It contains a conserved TGF-beta domain and is processed by furin-like proteases. The protein is involved in paracrine and endocrine signaling, regulating FSH release, cell proliferation, apoptosis, and differentiation. Dysregulation is linked to reproductive disorders and cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INHBB Knockout HEK293 Cell Line | EDJ-KQ50394 | Human | 3625 | Details Get a Quote |
| INHBB Knockout HeLa Cell Line | EDJ-KQ53662 | Human | 3625 | Details Get a Quote |
| INHBB Knockout A-549 Cell Line | EDJ-KQ62136 | Human | 3625 | Details Get a Quote |
| INHBB Knockout HCT 116 Cell Line | EDJ-KQ70626 | Human | 3625 | Details Get a Quote |
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