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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 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]

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 GPCR Pathway and PEDF Induced Signaling. GO annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is BMP4.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G006699 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -59.9 -59872 16.0 HNRNPUL1 PKNOX1 FOXA2 ATF1 ARID4B BRCA1 YY1 SLC30A9 GATA2 ZNF143 BMP2 MCM8 GC20M006625 GC20M006571
GH20G006838 0.7 ENCODE 10.9 +70.6 70625 0.2 PKNOX1 MXI1 JUN BACH1 ARID3A POLR2A FOS RELB IKZF2 MTA2 BMP2 ENSG00000232271
GH20G006734 0.2 ENCODE 13.2 -31.6 -31562 2.2 BMP2 LINC01713 GC20M006625
GH20G006768 0.9 ENCODE 0.7 +1.4 1358 3.7 HDGF PKNOX1 NFIB ZFP64 WRNIP1 YY1 GATA2 RELB FOS ZNF263 BMP2 ENSG00000232271
GH20G006828 0.7 ENCODE 0.2 +61.3 61345 0.2 CTCF PKNOX1 TEAD1 TRIM22 RAD21 FOXA1 MIER3 PBX2 SMC3 ZNF143 BMP2 ENSG00000232271
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000134188 1137 3600 HDGF PKNOX1 NFIB ZFP64 WRNIP1 GATA2 FOS RELB ZNF263 GATAD2B

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:
    44702 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). Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).

    Three dimensional structures from OCA and Proteopedia for BMP2 Gene

neXtProt entry for BMP2 Gene

Post-translational modifications for BMP2 Gene

  • Glycosylation at Asn135, posLast=163163, posLast=164164, Asn200, and posLast=338338
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BMP2
  • Santa Cruz Biotechnology (SCBT) 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:0004745 retinol dehydrogenase activity ISS --
GO:0005102 receptor binding TAS 2315314
GO:0005125 cytokine activity IEA,IBA --
GO:0005160 transforming growth factor beta receptor binding TAS --
GO:0005515 protein binding IPI 8413626
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMP2

Cell Line Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16604073
GO:0009986 cell surface IDA 22227436
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070724 BMP receptor complex IDA 16604073
genes like me logo Genes that share ontologies with BMP2: view

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:0001501 skeletal system development TAS 2315314
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation IDA 15150273
genes like me logo Genes that share ontologies with BMP2: view

Drugs & Compounds for BMP2 Gene

(55) 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 519
Anesthetics Pharma 9596

(47) 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BMP2

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of BMP2 Gene:

BMP2

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.

Evidence on tissue expression from TISSUES for BMP2 Gene

  • Bone(3.8)
  • Muscle(2.8)
  • Bone marrow(2.7)
  • Nervous system(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • skull
Thorax:
  • heart
  • heart valve
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia BMP2 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia BMP2 34 35
  • 91.39 (n)
cow
(Bos Taurus)
Mammalia BMP2 34 35
  • 88.95 (n)
mouse
(Mus musculus)
Mammalia Bmp2 34 16 35
  • 87.31 (n)
rat
(Rattus norvegicus)
Mammalia Bmp2 34
  • 86.85 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP2 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP2 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP2 34 35
  • 79.37 (n)
lizard
(Anolis carolinensis)
Reptilia BMP2 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp2 34
  • 71.57 (n)
zebrafish
(Danio rerio)
Actinopterygii bmp2a 35
  • 66 (a)
OneToMany
bmp2b 34 35
  • 64.79 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007987 34
  • 50.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta dpp 36 34 35
  • 50.09 (n)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 36
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7273 34
Species where no ortholog for BMP2 was found in the sources mined by GeneCards:
  • 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

Variants for BMP2 Gene

Sequence variations from dbSNP and Humsavar for BMP2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs142811428 Likely benign 6,778,450(+) AACTC(A/G)AAATT reference, synonymous-codon
rs374359416 Likely benign 6,778,528(+) GTCAC(C/T)CCCGC reference, synonymous-codon
rs374592377 Uncertain significance 6,770,449(+) CAACA(C/T)TGTGC intron-variant, reference, missense
rs886043711 Uncertain significance 6,770,401(+) GGGCT(C/T)ACCCG intron-variant, reference, missense
rs1049007 Benign 6,770,387(+) CACTC(A/G)GGTCA intron-variant, reference, synonymous-codon

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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)
osteonecrosis
  • avascular necrosis of bone
cauda equina syndrome
  • polyradiculopathy
- 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. A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study. (PMID: 19879168) Milet J. … FAcrec C. (Blood Cells Mol. Dis. 2010) 3 46 64
  2. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  4. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E. … Dorak M.T. (Mol. Hum. Reprod. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for BMP2 Gene

  • Addgene plasmids for BMP2

Sources for BMP2 Gene

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