U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    BMP10 bone morphogenetic protein 10 [ Homo sapiens (human) ]

    Gene ID: 27302, updated on 9-Dec-2024

    Summary

    Official Symbol
    BMP10provided by HGNC
    Official Full Name
    bone morphogenetic protein 10provided by HGNC
    Primary source
    HGNC:HGNC:20869
    See related
    Ensembl:ENSG00000163217 MIM:608748; AllianceGenome:HGNC:20869
    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
    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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]
    Expression
    Restricted expression toward heart (RPKM 211.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMP10 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68860909..68871397, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68873354..68883842, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (69088041..69098529, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 25 Neighboring gene uncharacterized LOC105374790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:69042669-69043169 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2482 Neighboring gene long intergenic non-protein coding RNA 1890 Neighboring gene long intergenic non-protein coding RNA 1888 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:69098345-69098505 Neighboring gene uncharacterized LOC105374792 Neighboring gene VISTA enhancer hs2511 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:69134837-69136036 Neighboring gene gastrokine 3, pseudogene

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126783

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor serine/threonine kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telethonin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adult heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in atrial cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle hypertrophy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell proliferation involved in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of sarcomere organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle hypertrophy in response to stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sarcomere organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular cardiac muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    bone morphogenetic protein 10

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032117.1 RefSeqGene

      Range
      5001..11037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_403

    mRNA and Protein(s)

    1. NM_014482.3NP_055297.1  bone morphogenetic protein 10 preproprotein

      See identical proteins and their annotated locations for NP_055297.1

      Status: REVIEWED

      Source sequence(s)
      AC097495, AF101441
      Consensus CDS
      CCDS1890.1
      UniProtKB/Swiss-Prot
      O95393, Q53R17, Q6NTE0
      Related
      ENSP00000295379.1, ENST00000295379.2
      Conserved Domains (2) summary
      pfam00019
      Location:321423
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:55256
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      68860909..68871397 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68873354..68883842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)