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Aliases for BMP2 Gene

Aliases for BMP2 Gene

  • Bone Morphogenetic Protein 2 2 3 5
  • Bone Morphogenetic Protein 2A 3 4
  • BMP2A 3 4
  • BMP-2A 4
  • BMP-2 4
  • BDA2 3

External Ids for BMP2 Gene

Previous HGNC Symbols for BMP2 Gene

  • BMP2A

Previous GeneCards Identifiers for BMP2 Gene

  • GC20P006737
  • GC20P006744

Summaries for BMP2 Gene

Entrez Gene Summary for BMP2 Gene

  • This gene encodes a member of the transforming growth factor-beta (TGFB) superfamily. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which induces bone and cartilage formation. [provided by RefSeq, Nov 2015]

GeneCards Summary for BMP2 Gene

BMP2 (Bone Morphogenetic Protein 2) is a Protein Coding gene. Diseases associated with BMP2 include Brachydactyly, Type A2 and Hemochromatosis. Among its related pathways are p70S6K Signaling and ERK Signaling. GO annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is GDF3.

UniProtKB/Swiss-Prot for BMP2 Gene

  • Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).

Gene Wiki entry for BMP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP2 Gene

Genomics for BMP2 Gene

Regulatory Elements for BMP2 Gene

Enhancers for BMP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BMP2 on UCSC Golden Path with GeneCards custom track

Promoters for BMP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BMP2 Gene

Chromosome:
20
Start:
6,767,664 bp from pter
End:
6,780,280 bp from pter
Size:
12,617 bases
Orientation:
Plus strand

Genomic View for BMP2 Gene

Genes around BMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP2 Gene

Proteins for BMP2 Gene

  • Protein details for BMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12643-BMP2_HUMAN
    Recommended name:
    Bone morphogenetic protein 2
    Protein Accession:
    P12643

    Protein attributes for BMP2 Gene

    Size:
    396 amino acids
    Molecular mass:
    D Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:10074410). Interacts with SOSTDC1 (PubMed:15020244). Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN (By similarity). Interacts with MAFP5 (By similarity).

    Three dimensional structures from OCA and Proteopedia for BMP2 Gene

neXtProt entry for BMP2 Gene

Proteomics data for BMP2 Gene at MOPED

Post-translational modifications for BMP2 Gene

  • Glycosylation at Asn 135, Asn 163, Asn 164, Asn 200, and Asn 338
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BMP2

Protein Products

  • Abcam proteins for BMP2

No data available for DME Specific Peptides for BMP2 Gene

Domains & Families for BMP2 Gene

Graphical View of Domain Structure for InterPro Entry

P12643

UniProtKB/Swiss-Prot:

BMP2_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP2: view

Function for BMP2 Gene

Molecular function for BMP2 Gene

GENATLAS Biochemistry:
bone morphogenetic protein 2 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),regulating myogenesis through dosage-dependent PAX3 expression in pre-myogenic cells,expressed in mesoderm under SHM control throuhg the mediaton of SOX9,involved in bone formation
UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).

LifeMap Function Summary for BMP2 Gene

During embryonic development, BMP2 as signaling molecule is secreted from the following cells
It affects the following cells:

Gene Ontology (GO) - Molecular Function for BMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 8413626
GO:0046332 SMAD binding IDA 18184661
genes like me logo Genes that share ontologies with BMP2: view
genes like me logo Genes that share phenotypes with BMP2: view

Human Phenotype Ontology for BMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMP2 Gene

MGI Knock Outs for BMP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for BMP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMP2 Gene

Localization for BMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BMP2 Gene COMPARTMENTS Subcellular localization image for BMP2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for BMP2 Gene

Pathways & Interactions for BMP2 Gene

genes like me logo Genes that share pathways with BMP2: view

SIGNOR curated interactions for BMP2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 9187146
GO:0000187 activation of MAPK activity IDA 17202865
GO:0001649 osteoblast differentiation IEA,IDA 15150273
GO:0001666 response to hypoxia IEA,ISS --
GO:0001701 in utero embryonic development IEA,ISS --
genes like me logo Genes that share ontologies with BMP2: view

Drugs & Compounds for BMP2 Gene

(51) Drugs for BMP2 Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 499
Anesthetics Pharma 8255

(51) Additional Compounds for BMP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BMP2: view

Transcripts for BMP2 Gene

mRNA/cDNA for BMP2 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMP2 Gene

Bone morphogenetic protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMP2 Gene

No ASD Table

Relevant External Links for BMP2 Gene

GeneLoc Exon Structure for
BMP2
ECgene alternative splicing isoforms for
BMP2

Expression for BMP2 Gene

mRNA expression in normal human tissues for BMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for BMP2 Gene Hs.73853

mRNA Expression by UniProt/SwissProt for BMP2 Gene

P12643-BMP2_HUMAN
Tissue specificity: Particularly abundant in lung, spleen and colon and in low but significant levels in heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, ovary and small intestine.
genes like me logo Genes that share expression patterns with BMP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for BMP2 Gene

Orthologs for BMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BMP2 35
  • 88.95 (n)
  • 94.18 (a)
BMP2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMP2 35
  • 91.39 (n)
  • 94.68 (a)
BMP2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp2 35
  • 87.31 (n)
  • 92.39 (a)
Bmp2 16
Bmp2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BMP2 35
  • 99.24 (n)
  • 99.24 (a)
BMP2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmp2 35
  • 86.85 (n)
  • 92.11 (a)
oppossum
(Monodelphis domestica)
Mammalia BMP2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP2 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP2 35
  • 79.37 (n)
  • 81.33 (a)
BMP2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMP2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp2 35
  • 71.57 (n)
  • 73.86 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
bmp2b 35
  • 64.79 (n)
  • 68.97 (a)
bmp2a 36
  • 66 (a)
OneToMany
bmp2b 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dpp 37
  • 40 (a)
dpp 35
  • 50.09 (n)
  • 42.55 (a)
dpp 36
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007987 35
  • 50.43 (n)
  • 47.86 (a)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 37
  • 36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7273 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for BMP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMP2 Gene

ENSEMBL:
Gene Tree for BMP2 (if available)
TreeFam:
Gene Tree for BMP2 (if available)

Paralogs for BMP2 Gene

Paralogs for BMP2 Gene

genes like me logo Genes that share paralogs with BMP2: view

Variants for BMP2 Gene

Sequence variations from dbSNP and Humsavar for BMP2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs2273073 - 6,770,235(+) CGGCG(G/T)CGTCG intron-variant, reference, missense
rs2273074 - 6,770,442(+) GCCGA(A/G)CCAAC intron-variant, reference, missense
rs235768 - 6,778,468(+) ACCAG(A/T)CTTTT reference, missense
rs36105541 - 6,770,355(+) TGCCC(C/T)CCTAC intron-variant, reference, missense
rs34183594 - 6,778,380(+) TGCTT(C/T)AGGAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BMP2 Gene

Variant ID Type Subtype PubMed ID
nsv833910 CNV Gain 17160897

Variation tolerance for BMP2 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMP2 Gene

Human Gene Mutation Database (HGMD)
BMP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP2 Gene

Disorders for BMP2 Gene

MalaCards: The human disease database

(46) MalaCards diseases for BMP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brachydactyly, type a2
  • brachydactyly type a2
hemochromatosis
  • hfe hemochromatosis, modifier of
20p12.3 microdeletion syndrome
  • del(20)(p12.3)
tympanosclerosis
osteonecrosis
  • avascular necrosis of bone
- elite association - COSMIC cancer census association via MalaCards
Search BMP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMP2

Genetic Association Database (GAD)
BMP2
Human Genome Epidemiology (HuGE) Navigator
BMP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP2
genes like me logo Genes that share disorders with BMP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP2 Gene

Publications for BMP2 Gene

  1. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J. … Mosser J. (Am. J. Hum. Genet. 2007) 3 48 67
  2. BMP2 accelerates the motility and invasiveness of gastric cancer cells via activation of the phosphatidylinositol 3-kinase (PI3K)/Akt pathway. (PMID: 19835871) Kang M.H. … Yoo Y.A. (Exp. Cell Res. 2010) 3 23
  3. Osteo-transcriptomics of human mesenchymal stem cells: accelerated gene expression and osteoblast differentiation induced by vitamin D reveals c-MYC as an enhancer of BMP2-induced osteogenesis. (PMID: 19857615) Piek E. … van Zoelen E.J. (Bone 2010) 3 23
  4. Elevated extracellular calcium increases expression of bone morphogenetic protein-2 gene via a calcium channel and ERK pathway in human dental pulp cells. (PMID: 20346918) Tada H. … Shimauchi H. (Biochem. Biophys. Res. Commun. 2010) 3 23
  5. A conserved post-transcriptional BMP2 switch in lung cells. (PMID: 20432245) Jiang S. … Rogers M.B. (J. Cell. Biochem. 2010) 3 23

Products for BMP2 Gene

Sources for BMP2 Gene

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