1: BMP15 bone morphogenetic protein 15 [ Homo sapiens ]

GeneID: 9210 updated 4-Dec-2009

[Top][Help]Summary

Official Symbol
BMP15provided by HGNC
Official Full Name
bone morphogenetic protein 15provided by HGNC
Primary Source
HGNC:1068
See related
Ensembl:ENSG00000130385; HPRD:02216; MIM:300247
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; BMP15
Summary
The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. Defects in this gene are the cause of ovarian dysgenesis 2.

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: X; Location: Xp11.2See BMP15 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. Bone morphogenetic protein 15 (BMP15) acts as a BMP and Wnt inhibitor during early embryogenesis.
PubMed 2. These findings support the concept that an adequate amount of BMP15 secreted in the follicular fluid is critical for female fertility.
PubMed 3. BMP15 variants do not play a significant role in human dizygotic twinning.
PubMed 4. We analyzed two polymorphisms (-9C>G and IVS1+905A>G) within the BMP15 gene in women from Spain with polycystic ovary syndrome (PCOS). BMP15 gene does not seem to be associated with PCOS.
PubMed 5. Findings indicate the role of BMP-15 in vivo in promoting follicle growth and preventing follicle maturation, resulting in an early decline in the ovarian reserve of transgenic mice.
PubMed 6. characterization of the post-translational modification of recombinant BMP-15 mature protein (P16 and P17); findings are the first knowledge of the structure of rhBMP-15 mature protein toward understanding the molecular basis of BMP-15 function
PubMed 7. phosphorylation state of rhBMP-15 and rhGDF-9 is a determinant of their agonistic and antagonistic activities
PubMed 8. Observational study of gene-disease association. (HuGE Navigator)
PubMed 9. a BMP15 alteration,as a possible cause of ovarian failure, previously described as a mutation, is instead a polymorphism
PubMed 10. Mutational screening of the bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes in a population with premature ovarian failure (POF) identified no new mutations.
PubMed 11. Hypergonadotropic ovarian failure is associated with an inherited mutation of human bone morphogenetic protein-15 gene.
PubMed 12. comparison of the molecular characteristics of BMP-15 of polyovulatory mice with that of monoovulatory humans
PubMed 13. interaction with growth and differentiation factor-9 and implication in aberrant ovarian phenotype
PubMed 14. Data show that bone morphogenetic protein-15 activates the Smad pathway in granulosa cell models.
PubMed 15. BMP-15 and GDF-9 have roles in fertility; critical sequences are determined by mutagenesis
PubMed 16. Missense mutations in the BMP15 gene are associated with ovarian failure
PubMed 17. although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in premature ovarian failure

[Top][Help]General gene information

Markers

BMP15(e-PCR)
Links: UniSTS:498187
BMP15_481(e-PCR)
Links: UniSTS:277034
NoName(e-PCR)
Links: UniSTS:481176
NoName(e-PCR)
Links: UniSTS:483491

Phenotypes

Ovarian dysgenesis 2
MIM: 300510
Premature ovarian failure 4
MIM: 300510

Genotypes

See BMP15 SNP Genotype Report
See BMP15 SNP Geneview Report
See BMP15 SNP Variation Viewer Report Variation View Link

Homology

Homologs of the BMP15 gene The BMP15 gene is conserved in chimpanzee, dog, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Function Evidence
cytokine activity IEA   
growth factor activity IEA   
Component Evidence
extracellular region IEA   
extracellular space IEA   

[Top][Help]General protein information

Preferred Names
bone morphogenetic protein 15
Names
bone morphogenetic protein 15
growth/differentiation factor 9B

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

Genomic

  1. NG_012894.1 RefSeqGene

    Range
    4951..10857
    Download
    GenBank FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005448.2NP_005439.2  bone morphogenetic protein 15 precursor

    Source sequence(s)
    BC117264
    Consensus CDS
    CCDS14334.1
    UniProtKB/Swiss-Prot
    O95972
    Related Ensembl
    ENSP00000252677, ENST00000252677
    Conserved Domains (1) summary
    cl02510
    Location:291392
    Blast Score: 340
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000023.10

    Range
    50653783..50659606
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NT_011638.13 

    Range
    629610..635433
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000066.1

    Range
    54697238..54703061
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_927704.1 

    Range
    1262063..1267886
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000155.1

    Range
    48097360..48103372, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)
  2. NW_001842365.2 

    Range
    1155728..1161740, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AF082349.1   AAC99768.1
  genomic   AF082350.1   AAC99768.1
  genomic   AJ132405.1   CAB43531.1
  genomic   AL359914.14   CAI41226.1
  genomic   CH471180.2   EAW89914.1
  mRNA   BC069155.1   AAH69155.1
  mRNA   BC117264.1   AAI17265.1
  mRNA   BC117266.1   AAI17267.1
Protein Accession   Links
O95972.2   GenPept   UniProtKB/Swiss-Prot:O95972

[Top][Help]Additional Links

Gene LinkOut

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