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

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; AllianceGenome:HGNC:1069
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

Location:: 20p12.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (6767686..6780246)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (6808871..6821444)
RS_2024_09	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?

Long non-coding TRPM2-AS regulates fracture healing by targeting miR-545-3p/Bmp2.
Title: Long non-coding TRPM2-AS regulates fracture healing by targeting miR-545-3p/Bmp2.
Exploring the Regulators of Keratinization: Role of BMP-2 in Oral Mucosa.
Title: Exploring the Regulators of Keratinization: Role of BMP-2 in Oral Mucosa.
MicroRNA 98-5p Overexpression Contributes to Delayed Fracture Healing via Targeting BMP-2.
Title: MicroRNA 98-5p Overexpression Contributes to Delayed Fracture Healing via Targeting BMP-2.
RUNX1-BMP2 promotes vasculogenic mimicry in laryngeal squamous cell carcinoma via activation of the PI3K-AKT signaling pathway.
Title: RUNX1-BMP2 promotes vasculogenic mimicry in laryngeal squamous cell carcinoma via activation of the PI3K-AKT signaling pathway.
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Title: Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
miR-539-5p targets BMP2 to regulate Treg activation in B-cell acute lymphoblastic leukemia through TGF-beta/Smads/MAPK.
Title: miR-539-5p targets BMP2 to regulate Treg activation in B-cell acute lymphoblastic leukemia through TGF-β/Smads/MAPK.
BMP2 rs1005464 is associated with mandibular condyle size variation.
Title: BMP2 rs1005464 is associated with mandibular condyle size variation.
Endometrial BMP2 Deficiency Impairs ITGB3-Mediated Trophoblast Invasion in Women With Repeated Implantation Failure.
Title: Endometrial BMP2 Deficiency Impairs ITGB3-Mediated Trophoblast Invasion in Women With Repeated Implantation Failure.
ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization.
Title: ATOH8 Expression Is Regulated by BMP2 and Plays a Key Role in Human Endometrial Stromal Cell Decidualization.
MicroRNA 211-5p inhibits cancer cell proliferation and migration in pancreatic cancer by targeting BMP2.
Title: MicroRNA 211-5p inhibits cancer cell proliferation and migration in pancreatic cancer by targeting BMP2.

Submit: New GeneRIF Correction See all GeneRIFs (614)

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
Hemochromatosis type 1 MedGen: C3469186 OMIM: 235200 GeneReviews: HFE-Related Hemochromatosis	Compare labs
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MedGen: C5542952 OMIM: 617877 GeneReviews: Not available	Compare labs
Type A2 brachydactyly MedGen: C1832702 OMIM: 112600 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

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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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor binding	IPI Inferred from Physical Interaction 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
enables cytokine activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytokine activity	ISS Inferred from Sequence or Structural Similarity more info
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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 Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in ameloblast differentiation	IEA Inferred from Electronic Annotation more info
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 astrocyte differentiation	IEA Inferred from Electronic Annotation 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 development	IEA Inferred from Electronic Annotation more info
involved_in bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
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	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
involved_in endodermal-mesodermal cell signaling	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart induction	IDA Inferred from Direct Assay more info	PubMed
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 lung vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in negative regulation of DNA-templated transcription	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	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 fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of gene expression	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
acts_upstream_of negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	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 osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoclast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pericardium development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	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 SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Wnt 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
involved_in positive regulation of bone mineralization involved in bone maturation	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 cell population proliferation	IMP Inferred from Mutant Phenotype 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	IMP Inferred from Mutant Phenotype 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 miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of odontoblast 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	IEA Inferred from Electronic Annotation more info
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
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
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
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 protein destabilization	IEA Inferred from Electronic Annotation more info
involved_in proteoglycan metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
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
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation 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
is_active_in extracellular space	IDA Inferred from Direct Assay 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.