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

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

Summary

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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: mouse all
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Genomic context

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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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single Nucleotide Polymorphisms of BMP2 Gene Association with Skeletal Class I Crowding: A PCR Study.
Title: Single Nucleotide Polymorphisms of BMP2 Gene Association with Skeletal Class I Crowding: A PCR Study.
Evaluation of BMP-2 Minicircle DNA for Enhanced Bone Engineering and Regeneration.
Title: Evaluation of BMP-2 Minicircle DNA for Enhanced Bone Engineering and Regeneration.
BMP2 Modified by the m(6)A Demethylation Enzyme ALKBH5 in the Ossification of the Ligamentum Flavum Through the AKT Signaling Pathway.
Title: BMP2 Modified by the m<sup>6</sup>A Demethylation Enzyme ALKBH5 in the Ossification of the Ligamentum Flavum Through the AKT Signaling Pathway.
A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve.
Title: A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve.
Variation of BMP2 Concentration and Its Activity in Bone Grafts Obtained from Patients Undergoing Hip Replacement Surgery.
Title: Variation of BMP2 Concentration and Its Activity in Bone Grafts Obtained from Patients Undergoing Hip Replacement Surgery.
Serum Levels of Bone Morphogenetic Proteins 2 and 4 in Patients with Acute Myocardial Infarction.
Title: Serum Levels of Bone Morphogenetic Proteins 2 and 4 in Patients with Acute Myocardial Infarction.
Bone morphogenetic protein 2 induces the activation of WNT/beta-catenin signaling and human trophoblast invasion through up-regulating BAMBI.
Title: Bone morphogenetic protein 2 induces the activation of WNT/β-catenin signaling and human trophoblast invasion through up-regulating BAMBI.
BMP2 signalling activation enhances bone metastases of non-small cell lung cancer.
Title: BMP2 signalling activation enhances bone metastases of non-small cell lung cancer.
lncRNA LINC01535 upregulates BMP2 expression levels to promote osteogenic differentiation via sponging miR36195p.
Title: lncRNA LINC01535 upregulates BMP2 expression levels to promote osteogenic differentiation via sponging miR‑3619‑5p.
BMP2 induces hMSC osteogenesis and matrix remodeling.
Title: BMP2 induces hMSC osteogenesis and matrix remodeling.

Submit: New GeneRIF Correction See all GeneRIFs (561)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66075 (e-PCR)
- UniSTS:2576

RH71375 (e-PCR)
- UniSTS:51497

BMP2_294 (e-PCR)
- UniSTS:277035

MARC_41391-41392:1086625030:1 (e-PCR)
- UniSTS:471597

D20S1011 (e-PCR)
- UniSTS:9552

NoName (e-PCR)
- UniSTS:489690

NoName (e-PCR)
- UniSTS:494578

D20S892 (e-PCR), detects polymorphism
- UniSTS:28411

Homology

Homologs of the BMP2 gene: The BMP2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 295 organisms have orthologs with human gene BMP2
Orthologs

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

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Preferred Names: bone morphogenetic protein 2

Names: bone morphogenetic protein 2A

NCBI Reference Sequences (RefSeq)

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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.