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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, Type 1. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PEDF Induced Signaling. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BMP2 Gene

Promoters and enhancers for BMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I006768 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +1.3 1277 3.9 HDGF PKNOX1 SMAD1 RB1 NFIB ZFP64 SIN3A YY1 ZNF335 ZNF143 BMP2 LOC105372517 ENSG00000232271
GH20I006767 Enhancer 0.3 ENCODE 550.8 -1.6 -1591 0 CTCF BMP2 LOC105372517 LINC01713
GH20I006699 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -59.9 -59872 16 FOXA2 ARID4B BRCA1 YY1 SLC30A9 ATF7 FOS RXRA MXD4 MIER2 BMP2 MCM8 GC20M006625 GC20M006571
GH20I006838 Enhancer 0.6 ENCODE 10.9 +70.6 70625 0.2 PKNOX1 ZNF687 JUN NR2F1 TRIM22 BACH1 JUNB DPF2 IKZF1 ATF7 BMP2 ENSG00000232271
GH20I006734 Enhancer 0.3 ENCODE 13.2 -31.6 -31562 2.2 USF1 LINC01713 BMP2 GC20M006625
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BMP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMP2 gene promoter:

Genomic Locations for BMP2 Gene

Genomic Locations for BMP2 Gene
chr20:6,767,664-6,780,280
(GRCh38/hg38)
Size:
12,617 bases
Orientation:
Plus strand
chr20:6,748,311-6,760,927
(GRCh37/hg19)

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 posLast=135135, Asn163, Asn164, posLast=200200, and Asn338
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMP2 Gene

Domains & Families for BMP2 Gene

Gene Families for BMP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

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:

Phenotypes From GWAS Catalog for BMP2 Gene

Gene Ontology (GO) - Molecular Function for BMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004745 retinol dehydrogenase activity IEA,ISS --
GO:0005102 receptor binding TAS 2315314
GO:0005125 cytokine activity 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

Clone Products

  • Addgene plasmids 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
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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,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 by RNA polymerase II 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,IEA 15150273
genes like me logo Genes that share ontologies with BMP2: view

Drugs & Compounds for BMP2 Gene

(57) 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 537
Anesthetics Pharma 10650

(45) 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:

Clone Products

  • Addgene plasmids for BMP2

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)
  • Heart(2)

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
Regions:
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

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 33 34
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia BMP2 33 34
  • 91.39 (n)
cow
(Bos Taurus)
Mammalia BMP2 33 34
  • 88.95 (n)
mouse
(Mus musculus)
Mammalia Bmp2 33 16 34
  • 87.31 (n)
rat
(Rattus norvegicus)
Mammalia Bmp2 33
  • 86.85 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP2 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP2 33 34
  • 79.37 (n)
lizard
(Anolis carolinensis)
Reptilia BMP2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp2 33
  • 71.57 (n)
zebrafish
(Danio rerio)
Actinopterygii bmp2a 34
  • 66 (a)
OneToMany
bmp2b 33 34
  • 64.79 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007987 33
  • 50.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta dpp 35 33 34
  • 50.09 (n)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7273 33
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 Variation AA Info Type
rs142811428 likely-benign, not specified 6,778,450(+) G/A coding_sequence_variant, synonymous_variant
rs374359416 likely-benign, not specified 6,778,528(+) C/A/T coding_sequence_variant, synonymous_variant
rs1057523275 uncertain-significance, not specified 6,778,358(+) C/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs374592377 uncertain-significance, not specified 6,770,449(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs886043711 uncertain-significance, not specified 6,770,401(+) C/T coding_sequence_variant, intron_variant, missense_variant

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)

Additional Variant Information for BMP2 Gene

Human Gene Mutation Database (HGMD)
BMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP2

SNP Genotyping and Copy Number Assay Products

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

Disorders for BMP2 Gene

MalaCards: The human disease database

(50) MalaCards diseases for BMP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brachydactyly, type a2
  • bda2
hemochromatosis, type 1
  • hfe1
20p12.3 microdeletion syndrome
  • del(20)(p12.3)
osteonecrosis
  • avascular necrosis of bone
craniosynostosis 7
  • crs7
- elite association - COSMIC cancer census association via MalaCards
Search BMP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  2. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PMID: 20587610) Ucisik-Akkaya E … Dorak MT (Molecular human reproduction 2010) 3 44 58
  3. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58

Products for BMP2 Gene

  • Addgene plasmids for BMP2

Sources for BMP2 Gene

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