FSHB Gene - Follicle Stimulating Hormone Subunit Beta
Essential regulator of reproductive function and gonadal development
Gene Information Card
| Symbol | FSHB |
|---|---|
| Full Name | Follicle Stimulating Hormone Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 2488 ncbi.nlm.nih.gov/gene/2488 |
| Ensembl ID | ENSG00000131808 |
| UniProt ID | P01225 |
| OMIM ID | 136530 |
| HGNC ID | 3964 |
| Aliases | FSH-B, FSHBETA, Follitropin beta chain |
Description
The FSHB gene encodes the beta subunit of follicle stimulating hormone (FSH), a glycoprotein hormone essential for reproductive function. FSH is a heterodimer composed of a common alpha subunit (CGA) and a unique beta subunit (FSHB) that confers biological specificity. FSHB is expressed in the anterior pituitary gland and regulates gametogenesis and steroidogenesis in the gonads. Mutations in FSHB cause isolated FSH deficiency, leading to delayed puberty, infertility, and hypogonadism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isolated FSH deficiency | Loss-of-function mutations in FSHB prevent dimerization with CGA, abolishing FSH secretion and action | OMIM #229070 |
| Hypogonadotropic hypogonadism | Deficient FSH signaling impairs follicular development in females and spermatogenesis in males | ClinVar, NCBI |
| Infertility | Reduced or absent FSH activity disrupts ovulation in females and sperm production in males | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary gland | 0.0 | Not detected (nTPM < 1) |
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP | 0.0 | Prostate cancer cell line; no expression |
| MCF7 | 0.0 | Breast cancer cell line; no expression |
| HEK293 | 0.0 | Embryonic kidney cell line; no expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.289C>T (p.Arg97X) | Nonsense | Rare | Premature stop codon; loss of FSHB function |
| c.329T>C (p.Val110Ala) | Missense | Rare | Impaired dimerization with CGA; reduced FSH activity |
| c.2T>C (p.Met1Thr) | Missense | Rare | Start codon loss; complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt FSHB synthesis, folding, or dimerization with CGA, leading to isolated FSH deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in FSHB.
Dominant Negative (DN)
No dominant-negative mutations reported; FSHB deficiency is typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:11850 Signaling by GPCR
• REACT:13685 G alpha (s) signalling events
• REACT:14797 G alpha (q) signalling events
• REACT:14988 PKA activation
• REACT:15009 cAMP-mediated signaling
• REACT:21273 GnRH signaling pathway
Protein Summary
FSHB is a 129-amino acid protein (UniProt P01225) that forms the beta subunit of follicle stimulating hormone. It is synthesized in the anterior pituitary gonadotropes and secreted as a heterodimer with the common alpha subunit (CGA). FSHB contains a cysteine knot motif and is N-glycosylated at Asn7 and Asn24. The protein binds to the FSH receptor (FSHR) on gonadal cells, activating cAMP-mediated signaling to promote folliculogenesis in females and spermatogenesis in males.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FSHB Knockout HEK293 Cell Line | EDJ-KQ50283 | Human | 2488 | Details Get a Quote |
| FSHB Knockout HeLa Cell Line | EDJ-KQ53268 | Human | 2488 | Details Get a Quote |
| FSHB Knockout A-549 Cell Line | EDJ-KQ61751 | Human | 2488 | Details Get a Quote |
| FSHB Knockout HCT 116 Cell Line | EDJ-KQ70235 | Human | 2488 | Details Get a Quote |
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