BMP15 Gene - Bone Morphogenetic Protein 15
Key regulator of ovarian folliculogenesis and female fertility
Gene Information Card
| Symbol | BMP15 |
|---|---|
| Full Name | Bone Morphogenetic Protein 15 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 9210 ncbi.nlm.nih.gov/gene/9210 |
| Ensembl ID | ENSG00000130385 |
| UniProt ID | O95972 |
| OMIM ID | 300247 |
| HGNC ID | 1068 |
| Aliases | GDF-9B, ODG3, POF4 |
Description
BMP15 (bone morphogenetic protein 15) is a member of the transforming growth factor-beta (TGF-β) superfamily. It is specifically expressed in oocytes and plays a critical role in ovarian folliculogenesis, granulosa cell proliferation, and ovulation. Mutations in BMP15 are associated with primary ovarian insufficiency (POI) and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ovarian Insufficiency 4 (POF4) | Loss-of-function mutations impair BMP15 signaling, disrupting follicular development and leading to premature ovarian failure. | OMIM #300510 |
| Ovarian Dysgenesis 3 (ODG3) | Homozygous or compound heterozygous mutations cause ovarian dysgenesis with streak gonads. | OMIM #614963 |
| Infertility (female) | BMP15 variants reduce oocyte quality and follicular maturation, contributing to unexplained infertility. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Fallopian Tube | 1.2 | Low |
| Uterus | 0.8 | Low |
| Breast | 0.3 | Not detected |
| Testis | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ovarian granulosa cells (KGN) | 8.4 | Endogenous expression |
| Ovarian surface epithelium (OSE) | 2.1 | Low expression |
| HEK293 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.704A>G (p.Tyr235Cys) | Missense | Rare | Reduced BMP15 activity; associated with POI |
| c.788C>T (p.Pro263Leu) | Missense | Rare | Dominant-negative effect; linked to ovarian dysgenesis |
| c.938G>A (p.Arg313His) | Missense | Rare | Impaired secretion; found in POI patients |
| c.997C>T (p.Arg333Trp) | Missense | Rare | Loss of function; associated with primary amenorrhea |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Tyr235Cys, p.Arg333Trp) reduce or abolish BMP15 signaling, leading to impaired folliculogenesis.
Gain of Function (GOF)
Not reported for BMP15.
Dominant Negative (DN)
p.Pro263Leu acts as a dominant-negative mutant, interfering with wild-type BMP15 and GDF9 heterodimer formation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Ovarian steroidogenesis (KEGG: hsa04913)
• BMP signaling pathway (Reactome: R-HSA-201451)
Protein Summary
BMP15 is a secreted growth factor of the TGF-β superfamily, synthesized as a preproprotein that undergoes proteolytic processing to generate a mature, biologically active dimer. It is specifically expressed in oocytes and acts on adjacent granulosa cells to promote proliferation, differentiation, and follicle survival. BMP15 signals through type I (ALK6) and type II (BMPR2) receptors, activating SMAD1/5/8 transcription factors. It can form heterodimers with GDF9, enhancing its bioactivity. Loss of BMP15 function leads to ovarian failure and infertility in humans and animal models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP15 Knockout HEK293 Cell Line | EDJ-KQ6500 | Human | 9210 | Details Get a Quote |
| BMP15 Knockout HeLa Cell Line | EDJ-KQ55102 | Human | 9210 | Details Get a Quote |
| BMP15 Knockout A-549 Cell Line | EDJ-KQ63584 | Human | 9210 | Details Get a Quote |
| BMP15 Knockout HCT 116 Cell Line | EDJ-KQ72049 | Human | 9210 | Details Get a Quote |
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