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 homo... See more...

Aliases for BMP2 Gene

Aliases for BMP2 Gene

  • Bone Morphogenetic Protein 2 2 3 4 5
  • Bone Morphogenetic Protein 2A 3 4
  • BMP2A 3 4
  • SSFSC1 3
  • BMP-2A 4
  • SSFSC 3
  • BMP-2 4
  • BDA2 3
  • BMP2 5

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 Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 and Brachydactyly, Type A2. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway. 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 Summary 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 , Rfam classification and piRNA Summary for BMP2 Gene

Genomics for BMP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH20J006768 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.7 1714 5.2 ZNF341 ZFP64 SIN3A CTBP1 TCF7L2 SMARCA5 BHLHE40 CTCF CBX2 IKZF1 BMP2 LOC105372517 HSALNG0128484 HSALNG0128487
GH20J006767 Enhancer 0.3 ENCODE 250.7 -1.6 -1613 0 CTCF BMP2 LOC105372517 HSALNG0128484 LINC01713 FERMT1
GH20J006699 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.6 -59.7 -59727 15.7 KLF9 CEBPA ATF3 BRCA1 YY1 MXD4 CEBPB FOXA1 MAX EP300 BMP2 MCM8 piR-31534-394 LINC01713 FERMT1
GH20J006838 Enhancer 0.9 Ensembl ENCODE 10.9 +70.5 70515 0.8 TRIM22 SMARCA5 JUND BHLHE40 ELF1 ZNF24 IKZF1 NR2F1 JUNB BACH1 BMP2 piR-35135-003 ENSG00000232271
GH20J006734 Enhancer 0.5 Ensembl ENCODE 13.2 -31.5 -31495 2.4 TOE1 USF1 LINC01713 BMP2 piR-31534-394 FERMT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP2

Top Transcription factor binding sites by QIAGEN in the BMP2 gene promoter:
  • aMEF-2
  • AML1a
  • MEF-2A
  • Nkx2-5

Genomic Locations for BMP2 Gene

Latest Assembly
chr20:6,767,686-6,780,246
(GRCh38/hg38)
Size:
12,561 bases
Orientation:
Plus strand

Previous Assembly
chr20:6,748,333-6,760,893
(GRCh37/hg19 by Entrez Gene)
Size:
12,561 bases
Orientation:
Plus strand

chr20:6,748,311-6,760,927
(GRCh37/hg19 by Ensembl)
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, Asn163, Asn164, Asn200, and Asn338
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for BMP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for BMP2

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

Protein Domains for BMP2 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)

Suggested Antigen Peptide Sequences for BMP2 Gene

GenScript: Design optimal peptide antigens:
  • Bone morphogenetic protein 2A (BMP2_HUMAN)
  • Bone morphogenetic protein 2 (C8C060_HUMAN)
  • Bone morphogenetic protein 2, isoform CRA_b (C8C061_HUMAN)
  • Bone morphogenetic protein 2 (C8C063_HUMAN)
  • Bone morphogenetic protein 2 (C8C064_HUMAN)

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

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).
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

LifeMap Function Summary for BMP2 Gene

During embryonic development, BMP2 as signaling molecule is secreted from the following cells
It affects the following cells:
BMP2 as growth factor is involved in stem cell differentiation protocols towards the derivation of 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 ISS --
GO:0005102 signaling receptor binding TAS 2315314
GO:0005125 cytokine activity ISS --
GO:0005515 protein binding IPI 8413626
GO:0008083 growth factor activity IEA --
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:
  • Bmp2 Bmp2<tm1.1Jfm>
  • Bmp2 Bmp2<tm1Brd>
  • Bmp2 Bmp2<tm1(KOMP)Vlcg>
  • Bmp2 Bmp2<tm1.2Mis>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 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 IBA,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

PathCards logo

SuperPathways for BMP2 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
.40
5 ERK Signaling
.61
.61
.58
.51
.49
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 15150273
genes like me logo Genes that share ontologies with BMP2: view

Drugs & Compounds for BMP2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma HMG-CoA reductase inhibitor 592
Anesthetics Pharma 14865

(44) 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

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for BMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.4)
  • Muscle(2.9)
  • Nervous system(2.7)
  • Bone marrow(2.7)
  • Skin(2.6)
  • Intestine(2.5)
  • Heart(2.5)
  • Blood(2.5)
  • Lung(2.4)
  • Liver(2.3)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Stomach(2.2)
  • Spleen(2.1)
  • Eye(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
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

Primer products for research

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 29 30
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BMP2 29 30
  • 91.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BMP2 29 30
  • 88.95 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bmp2 29 16 30
  • 87.31 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bmp2 29
  • 86.85 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia BMP2 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BMP2 30
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BMP2 29 30
  • 79.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BMP2 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bmp2 29
  • 71.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii bmp2a 30
  • 66 (a)
OneToMany
bmp2b 29 30
  • 64.79 (n)
OneToMany
-- 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007987 29
  • 50.43 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta dpp 29 30 31
  • 50.09 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dbl-1 31
  • 36 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7273 29
Species where no ortholog for BMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for BMP2: view image
Alliance of Genome Resources:
Additional Orthologs for BMP2

Paralogs for BMP2 Gene

(17) SIMAP similar genes for BMP2 Gene using alignment to 11 proteins:

  • BMP2_HUMAN
  • C8C060_HUMAN
  • C8C061_HUMAN
  • C8C063_HUMAN
  • C8C064_HUMAN
  • C8C065_HUMAN
  • C8C066_HUMAN
  • C8C068_HUMAN
  • C8C069_HUMAN
  • C8C071_HUMAN
  • U3N491_HUMAN
genes like me logo Genes that share paralogs with BMP2: view

Variants for BMP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1038630 Uncertain Significance: not provided 6,778,380(+) T/C
NM_001200.4(BMP2):c.482T>C (p.Leu161Ser)
MISSENSE
840957 Uncertain Significance: not provided 6,778,704(+) A/G
NM_001200.4(BMP2):c.806A>G (p.His269Arg)
MISSENSE
850711 Uncertain Significance: Brachydactyly type A2; not provided 6,770,142(+) C/T
NM_001200.4(BMP2):c.16C>T (p.Arg6Cys)
MISSENSE
871374 Likely Pathogenic: not provided 6,778,509(+) GGGAAAGTTTTGAT/G
NM_001200.4(BMP2):c.613_625del (p.Glu205fs)
FRAMESHIFT
932375 Uncertain Significance: not provided 6,778,752(+) A/G
NM_001200.4(BMP2):c.854A>G (p.Lys285Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
BMP2

SNP Genotyping and Copy Number Assays for research

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

Disorders for BMP2 Gene

MalaCards: The human disease database

(87) MalaCards diseases for BMP2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

UniProtKB/Swiss-Prot

BMP2_HUMAN
  • Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269 PubMed:19327734, ECO:0000269 PubMed:21357617}. Note=The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences. {ECO:0000269 PubMed:19327734, ECO:0000269 PubMed:21357617}.
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC) [MIM:617877]: An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. {ECO:0000269 PubMed:29198724}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BMP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BMP2: view

No data available for Genatlas for BMP2 Gene

Publications for BMP2 Gene

  1. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. (PMID: 19327734) Dathe K … Mundlos S (American journal of human genetics 2009) 3 4 72
  2. Targeting of bone morphogenetic protein growth factor complexes to fibrillin. (PMID: 18339631) Sengle G … Sakai LY (The Journal of biological chemistry 2008) 3 4 22
  3. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PMID: 17847004) Milet J … Mosser J (American journal of human genetics 2007) 3 22 40
  4. Crystal structure of human bone morphogenetic protein-2 at 2.7 A resolution. (PMID: 10074410) Scheufler C … Hülsmeyer M (Journal of molecular biology 1999) 3 4 22
  5. Bovine osteogenic protein is composed of dimers of OP-1 and BMP-2A, two members of the transforming growth factor-beta superfamily. (PMID: 2376592) Sampath TK … Rueger DC (The Journal of biological chemistry 1990) 2 3 22

Products for BMP2 Gene

  • Addgene plasmids for BMP2

Sources for BMP2 Gene