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

    Gene ID: 9210, updated on 5-Aug-2018

    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; Vega:OTTHUMG00000021525
    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

    Genomic context

    See BMP15 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (50910735..50916641)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (50653735..50659641)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene shroom family member 4 Neighboring gene RNA, U6 small nuclear 935, pseudogene Neighboring gene H3 histone, family 3A, pseudogene 5 Neighboring gene high mobility group box 1 pseudogene 15 Neighboring gene uncharacterized LOC105373202

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
      Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
    • Ovarian steroidogenesis, conserved biosystem (from KEGG)
      Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    female gamete generation TAS
    Traceable Author Statement
    more info
    PubMed 
    granulosa cell development IEA
    Inferred from Electronic Annotation
    more info
     
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_012894.1 RefSeqGene

      Range
      4952..10858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_005439.2

      Status: REVIEWED

      Source sequence(s)
      BC117264
      Consensus CDS
      CCDS14334.1
      UniProtKB/Swiss-Prot
      O95972
      Related
      ENSP00000252677.3, OTTHUMP00000023297, ENST00000252677.3, OTTHUMT00000056572
      Conserved Domains (1) summary
      pfam00019
      Location:291391
      TGF_beta; Transforming growth factor beta like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      50910735..50916641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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