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

Gene ID: 9210, updated on 12-Oct-2019

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
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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 pseudogene 44 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 
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, ENST00000252677.3
    Conserved Domains (1) summary
    pfam00019
    Location:291391
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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