BMP15 bone morphogenetic protein 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMP15provided by HGNC
Official Full Name: bone morphogenetic protein 15provided by HGNC
Primary source: HGNC:HGNC:1068
See related: Ensembl:ENSG00000130385 MIM:300247; AllianceGenome:HGNC:1068
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ODG2; POF4; GDF9B
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (50910735..50916641)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (50181955..50187861)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (50653735..50659641)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.
Title: Decreased GDF9 and BMP15 in follicle fluid and granulosa cells and outcomes of IVF-ET among young patients with low prognosis.
Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.
Title: Serum GDF9 and BMP15 as potential markers of ovarian function in women with and without polycystic ovary syndrome.
Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Title: Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.
Title: Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.
Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.
Title: Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.
Age-related decline in the expression of GDF9 and BMP15 genes in follicle fluid and granulosa cells derived from poor ovarian responders.
Title: Age-related decline in the expression of GDF9 and BMP15 genes in follicle fluid and granulosa cells derived from poor ovarian responders.
Bone morphogenetic protein 15 induces differentiation of mesenchymal stem cells derived from human follicular fluid to oocyte-like cell.
Title: Bone morphogenetic protein 15 induces differentiation of mesenchymal stem cells derived from human follicular fluid to oocyte-like cell.
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Title: Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Alterations in follicular fluid BMP-15 RNA expression in women undergoing controlled ovarian hyperstimulation
Title: Alterations in follicular fluid BMP-15 RNA expression in women undergoing controlled ovarian hyperstimulation.
It was observed a statistically significant difference in genotype distribution of BMP15:c.852C>T between group POI and controls (p < 0.001). TT and TC genotypes were more frequently observed in group POI.. Concerning GDF9, no association was found among the studied genetic variants and POI or high FSH groups
Title: Association of BMP15 and GDF9 variants to premature ovarian insufficiency.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ovarian dysgenesis 2 MedGen: C1845294 OMIM: 300510 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BMP15 (e-PCR)
- UniSTS:498187

BMP15_481 (e-PCR)
- UniSTS:277034

NoName (e-PCR)
- UniSTS:481176

NoName (e-PCR)
- UniSTS:483491

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in female gamete generation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: bone morphogenetic protein 15

Names: growth/differentiation factor 9B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.