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BMP2 bone morphogenetic protein 2 [ Homo sapiens (human) ]

Gene ID: 650, updated on 19-Jul-2021

Summary

Official Symbol
BMP2provided by HGNC
Official Full Name
bone morphogenetic protein 2provided by HGNC
Primary source
HGNC:HGNC:1069
See related
Ensembl:ENSG00000125845 MIM:112261
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
BDA2; BMP2A; SSFSC; SSFSC1
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. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Expression
Broad expression in fat (RPKM 13.9), colon (RPKM 12.1) and 21 other tissues See more
Orthologs
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Genomic context

See BMP2 in Genome Data Viewer
Location:
20p12.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (6767686..6780246)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (6748333..6760893)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1713 Neighboring gene BMP2 5' regulatory region Neighboring gene uncharacterized LOC105372517 Neighboring gene long intergenic non-protein coding RNA 1428 Neighboring gene long intergenic non-protein coding RNA 1751

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
GeneReviews: Not available
Brachydactyly type A2
MedGen: C1832702 OMIM: 112600 GeneReviews: Not available
Compare labs
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
GeneReviews: Not available
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Hemochromatosis type 1
MedGen: C3469186 OMIM: 235200 GeneReviews: HFE Hemochromatosis
Compare labs
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
MedGen: C4693481 OMIM: 617877 GeneReviews: Not available
Compare labs
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag HIV-1 Gag reduces osteoblast function and significantly reduces the levels of BMP-2, BMP-7, osteocalcin, and RANK-L PubMed
Tat tat Treatment of pulmonary arterial smooth muscle cells with HIV-1 Tat induces significantly higher secretion of BMP-2 and BMP-7 ligands when compared with that of untreated cells PubMed
tat BMP-2 treatment of BMPR-2 overexpressing pulmonary arterial smooth muscle cells (PASMCs) completely inhibits HIV-1 Tat- and cocaine-mediated augmentation of PASMC proliferation PubMed
tat BMP-2 is upregulated by HIV-1 Tat treatment in human epithelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables BMP receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables BMP receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables co-receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytokine activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
enables phosphatase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
enables transcription regulator activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in BMP signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in BMP signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in BMP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in BMP signaling pathway involved in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in BMP signaling pathway involved in heart induction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in animal organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within aortic valve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular canal morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in atrioventricular valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone mineralization involved in bone maturation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac atrium formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiac jelly development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cardiocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cardiocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in cellular response to BMP stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to BMP stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in chondrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in corticotropin hormone secreting cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesenchymal cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mesenchymal cell proliferation involved in ureteric bud development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesenchyme development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of negative regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of Wnt signaling pathway involved in heart development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of aldosterone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of calcium-independent cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in negative regulation of cardiac muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of cell population proliferation 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 gene expression IDA
Inferred from Direct Assay
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 smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of transforming growth factor beta receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pericardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of Wnt signaling pathway by BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of cartilage development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of endothelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of extracellular matrix constituent secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of odontogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of ossification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of osteoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of p38MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of peroxisome proliferator activated receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within positive regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of pri-miRNA transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II 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 positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein destabilization IEA
Inferred from Electronic Annotation
more info
 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteoglycan metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within telencephalon development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in telencephalon regionalization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in thyroid-stimulating hormone-secreting cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of BMP receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface 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
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
bone morphogenetic protein 2
Names
bone morphogenetic protein 2A

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_023233.1 RefSeqGene

    Range
    4589..17149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001200.4NP_001191.1  bone morphogenetic protein 2 preproprotein

    See identical proteins and their annotated locations for NP_001191.1

    Status: REVIEWED

    Source sequence(s)
    AA489383, AL035668, BC069214, BM670141, M22489
    Consensus CDS
    CCDS13099.1
    UniProtKB/Swiss-Prot
    P12643
    UniProtKB/TrEMBL
    C8C060
    Related
    ENSP00000368104.3, ENST00000378827.5
    Conserved Domains (2) summary
    smart00204
    Location:296396
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:37267
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    6767686..6780246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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