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

Gene ID: 653, updated on 24-Nov-2020

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
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

Genomic context

See BMP5 in Genome Data Viewer
Location:
6p12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (55753653..55875590, complement)
105 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-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC34244

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
bone morphogenetic protein 5

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.

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/Swiss-Prot
    P22003
    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
    P22003
    UniProtKB/TrEMBL
    A8K694, M9VUD0
    Related
    ENSP00000359866.3, ENST00000370830.4
    Conserved Domains (2) summary
    pfam00688
    Location:32304
    TGFb_propeptide; TGF-beta propeptide
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011514817.3XP_011513119.1  bone morphogenetic protein 5 isoform X1

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

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