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.

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 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
Displaying Records 1 To 4 Of 4 Records
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