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    BMP5 bone morphogenetic protein 5 [ Homo sapiens (human) ]

    Gene ID: 653, updated on 17-Jun-2024

    Summary

    Official Symbol
    BMP5provided by HGNC
    Official Full Name
    bone morphogenetic protein 5provided by HGNC
    Primary source
    HGNC:HGNC:1072
    See related
    Ensembl:ENSG00000112175 MIM:112265; AllianceGenome:HGNC:1072
    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 each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in placenta (RPKM 11.7), lung (RPKM 3.1) and 7 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BMP5 in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (55753653..55875590, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (55593278..55715204, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (55618451..55740388, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha like Neighboring gene 3-hydroxy-3-methylglutaryl-CoA lyase like 1 Neighboring gene Sharpr-MPRA regulatory region 3486 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:55558913-55559433 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92273 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92293 Neighboring gene NANOG hESC enhancer GRCh37_chr6:55639263-55639806 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:55724930-55725119 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:55774580-55775114 Neighboring gene uncharacterized LOC107986539 Neighboring gene nucleophosmin 1 pseudogene 36

    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

    • MGC34244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in allantois development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterior head development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chorio-allantoic fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ear development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cortisol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of mononuclear cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural fold elevation formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pericardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pharyngeal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of dendrite development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 5

    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.

    mRNA and Protein(s)

    1. NM_001329754.2NP_001316683.1  bone morphogenetic protein 5 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638
      UniProtKB/TrEMBL
      A8K694
      Conserved Domains (2) summary
      pfam00019
      Location:353416
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    2. NM_001329756.2NP_001316685.1  bone morphogenetic protein 5 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL133386, AL137178, BQ025899
      Conserved Domains (1) summary
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    3. NM_021073.4NP_066551.1  bone morphogenetic protein 5 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_066551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638
      Consensus CDS
      CCDS4958.1
      UniProtKB/Swiss-Prot
      B4E0Y4, P22003, Q9H547, Q9NTM5
      UniProtKB/TrEMBL
      A8K694, M9VUD0
      Related
      ENSP00000359866.3, ENST00000370830.4
      Conserved Domains (2) summary
      cd19395
      Location:342454
      TGF_beta_BMP5; transforming growth factor beta (TGF-beta) like domain found in bone morphogenetic protein 5 (BMP-5) and similar proteins
      pfam00688
      Location:32304
      TGFb_propeptide; TGF-beta propeptide

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      55753653..55875590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514817.4XP_011513119.1  bone morphogenetic protein 5 isoform X1

      Conserved Domains (1) summary
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    2. XM_024446524.2XP_024302292.1  bone morphogenetic protein 5 isoform X2

      Conserved Domains (1) summary
      pfam00688
      Location:31229
      TGFb_propeptide; TGF-beta propeptide

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      55593278..55715204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356242.1XP_054212217.1  bone morphogenetic protein 5 isoform X1

    2. XM_054356243.1XP_054212218.1  bone morphogenetic protein 5 isoform X2