• Gene id: 9210

Gene Summary

• Gene Symbol: BMP15   Gene   UCSC   Ensembl
• Aliases: GDF9B, ODG2, POF4
• Gene name: bone morphogenetic protein 15
• Alternate names: bone morphogenetic protein 15, growth/differentiation factor 9B,
• Gene location: Xp11.22 (132866883: 132861180)     Exons: 6     NC_000005.10
• Gene summary(Entrez): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
• OMIM: 300247

Protein Summary

• Protein general information: O95972  
  • Name: Bone morphogenetic protein 15 (BMP 15) (Growth/differentiation factor 9B) (GDF 9B)
  • Length: 392  
  • Mass: 45,055
• Sequence:

  MVLLSILRILFLCELVLFMEHRAQMAEGGQSSIALLAEAPTLPLIEELLEESPGEQPRKPRLLGHSLRYMLELYR
  RSADSHGHPRENRTIGATMVRLVKPLTNVARPHRGTWHIQILGFPLRPNRGLYQLVRATVVYRHHLQLTRFNLSC
  HVEPWVQKNPTNHFPSSEGDSSKPSLMSNAWKEMDITQLVQQRFWNNKGHRILRLRFMCQQQKDSGGLELWHGTS
  SLDIAFLLLYFNDTHKSIRKAKFLPRGMEEFMERESLLRRTRQADGISAEVTASSSKHSGPENNQCSLHPFQISF
  RQLGWDHWIIAPPFYTPNYCKGTCLRVLRDGLNSPNHAIIQNLINQLVDQSVPRPSCVPYKYVPISVLMIEANGS
  ILYKEYEGMIAESCTCR

• Structural information:
  • Interpro: IPR015923  IPR029034  IPR001839  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • STRING: ENSP00000252677
• Other Databases: GeneCards:  BMP15  Malacards:  BMP15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007292	female gamete generation	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060016	granulosa cell development	IEA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005125	cytokine activity	IEA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007292	female gamete generation	TAS	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060016	granulosa cell development	IEA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0007292	female gamete generation	TAS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0048468	cell development	IBA	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04913	Ovarian steroidogenesis

Diseases

Associated diseases	References
Obesity	GAD: 20734064
Ovarian hyperstimulation syndrome (OHSS)	GAD: 16788381
Ovarian hyperstimulation syndrome (OHSS)	GAD: 16788381
Premature ovarian failure (POF)	GAD: 16464940
Premature ovarian insufficiency (POI)	INFBASE: 23107817
Poor ovarian response (POR)	INFBASE: 23268941
Poor ovarian response (POR)	INFBASE: 17924460
Primary follicle recruitment	INFBASE: 21193543
Hypergonadotropic ovarian failure	INFBASE: 15136966
Polycystic ovary syndrome (PCOS)	INFBASE: 25172094
Oocyte maturation	INFBASE: 25139161
Ovarian dysgenesis	INFBASE: 15136966
Non-syndromic premature ovarian failure	INFBASE: 25246117
Ovarian function	INFBASE: 21226076
Response to ovarian stimulation	INFBASE: 21565556
Ovarian reserve	INFBASE: 25336710
XX gonadal dysgenesis	INFBASE: 17826728
Congenital adrenal hyperplasia	KEGG: H00216
Female infertility	INFBASE: 23173577
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oocyte maturation, fertilization, embryo quality, and pregnancy outcome	MIK: 25139161
Polycystic ovary syndrome (PCOS)	MIK: 22825968
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22825968	PCOS		PCOS un dergoin g COH	53 (18 patients with PCOS, 35 controls)	Male infertility	BMPR2 BMP15 and GDF9
25139161	Oocyte maturation, fertilization, embryo quality, and pregnancy outcome			196 female patients who underwent intracytoplasmic sperm injection (ICSI)	Male infertility	GDF9 BMP15
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881