BMP15: Polycystic Ovarian Syndrome Database

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BMP15

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

BMP15

Aliases

GDF9B, ODG2, POF4

Entrez Gene ID

9210

Gene Name

Bone morphogenetic protein 15

Chromosomal Location

Xp11.22

HGNC ID

HGNC:1068

Summary

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 gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]

RefSeq DNA

NG_012894.1

RefSeq mRNA

NM_005448.2

e!Ensembl

Gene	ENSG00000130385
Transcript	ENST00000252677
Protein	ENSP00000252677

Gene Ontology (GO)

Show/Hide all(10 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007292	Biological process	Female gamete generation	TAS	9849956
GO:0010862	Biological process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0030509	Biological process	BMP signaling pathway	IBA	21873635
GO:0042981	Biological process	Regulation of apoptotic process	IBA	21873635
GO:0043408	Biological process	Regulation of MAPK cascade	IBA	21873635
GO:0048468	Biological process	Cell development	IBA	21873635
GO:0060395	Biological process	SMAD protein signal transduction	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005125	Molecular function	Cytokine activity	IBA	21873635
GO:0005160	Molecular function	Transforming growth factor beta receptor binding	IBA	21873635

Protein Information

Protein Name

Bone morphogenetic protein 15, growth/differentiation factor 9B

Function

May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth

Refseq Proteins

NP_005439.2

UniProt

O95972

Pfam

Pfam Accession	Pfam ID
PF00019	TGF_beta

Pathways
	KEGG	Reactome
	Cytokine-cytokine receptor interaction Ovarian steroidogenesis	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Interactions

STRING	MINT	IntAct
ENSP00000304845		P22309

View interactions

Associated Diseases

Show/Hide all(3 )

Disease group	Disease Name	References
Endocrine System Diseases
	Ovarian Dysgenesis	15136966, 19263482, 16464940, 19438907, 16645022, 16508750
	Ovarian Failure	15136966, 16508750, 19263482, 16645022, 19438907, 16464940
	PCOS	22014425
Neoplasms
Neoplasms	Ovarian Cancer	22825968
Psychiatric/Brain disorders
Psychiatric/Brain disorders	Intellectual Disability	26350204

References

Show/Hide all(2)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22014425			c.34C>G, c.109G>C, c.169C>G, c.288G>C, and c.598C>T	NIH criteria	Direct	216 Chinese PCOS patients	These results are the first to indicate that BMP15 gene mutations may be potentially associated with PCOS patients
25172094	GDF9				Direct	28 women with PCOS, 26 controls	The expression of these proteins is reduced and delayed in the early follicular stage in PCOS ovarian tissues, and these differences in expression may be associated with aberrant follicular development in patients with PCOS

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