Human Gene BMP2 (ENST00000378827.5)
  Description: Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. (from RefSeq NM_001200)
RefSeq Summary (NM_001200): 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].
Gencode Transcript: ENST00000378827.5
Gencode Gene: ENSG00000125845.7
Transcript (Including UTRs)
   Position: hg38 chr20:6,767,686-6,780,246 Size: 12,561 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr20:6,770,127-6,779,089 Size: 8,963 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:6,767,686-6,780,246)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BMP2_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 2; Short=BMP-2; AltName: Full=Bone morphogenetic protein 2A; Short=BMP-2A; Flags: Precursor;
FUNCTION: Induces cartilage and bone formation.
SUBUNIT: Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with GREM2, RGMA, RGMB and RGMC. Interacts with ASPN (By similarity).
INTERACTION: P36894:BMPR1A; NbExp=2; IntAct=EBI-1029262, EBI-1029237;
SUBCELLULAR LOCATION: Secreted.
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.
PHARMACEUTICAL: Available under the name Infuse (Medtronic Sofamor Danek). Used for treating open tibial shaft fractures.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 2 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_2";

-  MalaCards Disease Associations
  MalaCards Gene Search: BMP2
Diseases sorted by gene-association score: brachydactyly, type a2* (790), hemochromatosis* (398), 20p12.3 microdeletion syndrome* (25), osteonecrosis (25), craniosynostosis 7 (18), tympanosclerosis (15), ankylosis (14), keutel syndrome (13), fibrochondrogenesis (13), degenerative disc disease (11), cauda equina syndrome (11), ischemic bone disease (10), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas (10), osteomyelitis (9), polyradiculopathy (9), bone fracture (9), otosclerosis (8), ossification of the posterior longitudinal ligament of spine (8), bullous keratopathy (8), diastrophic dysplasia (8), synovial chondromatosis (8), hyperostosis, endosteal (8), osseous heteroplasia, progressive (8), bone structure disease (8), tooth ankylosis (7), pulmonary hypertension (7), wolff-parkinson-white syndrome (7), osteosarcoma, somatic (7), refractive error (7), spondylolisthesis (6), tooth resorption (6), osteofibrous dysplasia (6), bone resorption disease (5), aortic valve disease 1 (5), brain glioma (5), bone deterioration disease (5), dental pulp necrosis (5), renal dysplasia (5), aortic valve disease 2 (5), proximal symphalangism (5), bone remodeling disease (4), squamous cell papilloma (4), osteoporosis (4), craniosynostosis (3), osteochondroma (3), tooth agenesis (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.95 RPKM in Bladder
Total median expression: 145.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -565.401197-0.472 Picture PostScript Text
3' UTR -234.501157-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002405 - Inhibin_asu
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain
PF00688 - TGF-beta propeptide

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1ES7
- X-ray MuPIT

1REU
- X-ray MuPIT

1REW
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2GOO - X-ray MuPIT 2H62 - X-ray MuPIT 2H64 - X-ray MuPIT
2QJ9 - X-ray MuPIT 2QJA - X-ray MuPIT 2QJB - X-ray MuPIT
3BK3 - X-ray MuPIT 3BMP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12643
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004745 retinol dehydrogenase activity
GO:0005102 receptor binding
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0019211 phosphatase activator activity
GO:0039706 co-receptor binding
GO:0046332 SMAD binding
GO:0046982 protein heterodimerization activity
GO:0070700 BMP receptor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000187 activation of MAPK activity
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0001837 epithelial to mesenchymal transition
GO:0001934 positive regulation of protein phosphorylation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0002062 chondrocyte differentiation
GO:0003130 BMP signaling pathway involved in heart induction
GO:0003181 atrioventricular valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003308 negative regulation of Wnt signaling pathway involved in heart development
GO:0006029 proteoglycan metabolic process
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006954 inflammatory response
GO:0007219 Notch signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007507 heart development
GO:0008285 negative regulation of cell proliferation
GO:0009887 animal organ morphogenesis
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0010894 negative regulation of steroid biosynthetic process
GO:0010922 positive regulation of phosphatase activity
GO:0021537 telencephalon development
GO:0021978 telencephalon regionalization
GO:0030154 cell differentiation
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030282 bone mineralization
GO:0030335 positive regulation of cell migration
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0031648 protein destabilization
GO:0032092 positive regulation of protein binding
GO:0032348 negative regulation of aldosterone biosynthetic process
GO:0033690 positive regulation of osteoblast proliferation
GO:0035051 cardiocyte differentiation
GO:0035054 embryonic heart tube anterior/posterior pattern specification
GO:0035630 bone mineralization involved in bone maturation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042482 positive regulation of odontogenesis
GO:0042487 regulation of odontogenesis of dentin-containing tooth
GO:0043065 positive regulation of apoptotic process
GO:0043410 positive regulation of MAPK cascade
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway
GO:0045165 cell fate commitment
GO:0045597 positive regulation of cell differentiation
GO:0045600 positive regulation of fat cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045778 positive regulation of ossification
GO:0045786 negative regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048468 cell development
GO:0048711 positive regulation of astrocyte differentiation
GO:0048762 mesenchymal cell differentiation
GO:0048839 inner ear development
GO:0051042 negative regulation of calcium-independent cell-cell adhesion
GO:0051216 cartilage development
GO:0055007 cardiac muscle cell differentiation
GO:0055008 cardiac muscle tissue morphogenesis
GO:0055114 oxidation-reduction process
GO:0060039 pericardium development
GO:0060128 corticotropin hormone secreting cell differentiation
GO:0060129 thyroid-stimulating hormone-secreting cell differentiation
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060395 SMAD protein signal transduction
GO:0060485 mesenchyme development
GO:0060804 positive regulation of Wnt signaling pathway by BMP signaling pathway
GO:0061036 positive regulation of cartilage development
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071363 cellular response to growth factor stimulus
GO:0071407 cellular response to organic cyclic compound
GO:0071773 cellular response to BMP stimulus
GO:0072138 mesenchymal cell proliferation involved in ureteric bud development
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:1900745 positive regulation of p38MAPK cascade
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter
GO:2000065 negative regulation of cortisol biosynthetic process
GO:2000726 negative regulation of cardiac muscle cell differentiation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0009986 cell surface
GO:0043231 intracellular membrane-bounded organelle
GO:0070724 BMP receptor complex


-  Descriptions from all associated GenBank mRNAs
  JD056231 - Sequence 37255 from Patent EP1572962.
BC069214 - Homo sapiens bone morphogenetic protein 2, mRNA (cDNA clone IMAGE:6303163).
HH837107 - Sequence 34 from Patent EP2231168.
HI214748 - Sequence 34 from Patent EP2076526.
HV601550 - JP 2011500003-A/34: Novel siRNA Structures.
HV856623 - JP 2010507387-A/34: Novel siRNAs and Methods of Use Thereof.
HW061160 - JP 2012529430-A/35: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165110 - JP 2013102767-A/34: Novel siRNA's and Use Thereof.
HW675618 - JP 2014210789-A/34: Novel siRNA Structures.
HW835306 - JP 2015051004-A/34: Novel siRNA's and Use Thereof.
JA482115 - Sequence 98 from Patent WO2011072091.
JA538149 - Sequence 34 from Patent EP2371958.
JB251968 - Sequence 35 from Patent EP2440214.
JE980407 - Sequence 98 from Patent EP2862929.
LP764867 - Sequence 35 from Patent EP3276004.
LF211850 - JP 2014500723-A/19353: Polycomb-Associated Non-Coding RNAs.
MA447427 - JP 2018138019-A/19353: Polycomb-Associated Non-Coding RNAs.
M22489 - Human bone morphogenetic protein 2A (BMP-2A) mRNA.
JD537975 - Sequence 518999 from Patent EP1572962.
JD443712 - Sequence 424736 from Patent EP1572962.
JD190598 - Sequence 171622 from Patent EP1572962.
JD390457 - Sequence 371481 from Patent EP1572962.
JD554596 - Sequence 535620 from Patent EP1572962.
JD473761 - Sequence 454785 from Patent EP1572962.
JD178851 - Sequence 159875 from Patent EP1572962.
JD074335 - Sequence 55359 from Patent EP1572962.
EU832168 - Synthetic construct Homo sapiens clone HAIB:100067197; DKFZo008G1125 bone morphogenetic protein 2 protein (BMP2) gene, encodes complete protein.
EU832262 - Synthetic construct Homo sapiens clone HAIB:100067291; DKFZo004G1126 bone morphogenetic protein 2 protein (BMP2) gene, encodes complete protein.
BC140325 - Synthetic construct Homo sapiens clone IMAGE:100014367, MGC:173226 bone morphogenetic protein 2 (BMP2) mRNA, encodes complete protein.
BC148689 - Synthetic construct Homo sapiens clone IMAGE:100015698, MGC:183153 bone morphogenetic protein 2 (BMP2) mRNA, encodes complete protein.
AB463447 - Synthetic construct DNA, clone: pF1KB7232, Homo sapiens BMP2 gene for bone morphogenetic protein 2, without stop codon, in Flexi system.
KC294426 - Homo sapiens bone morphogenetic protein 2 (BMP2) mRNA, complete cds.
KF250425 - Homo sapiens BMP2 protein precursor (BMP2) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04340 - Hedgehog signaling pathway
hsa04350 - TGF-beta signaling pathway
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

BioCyc Knowledge Library
PWY66-11 - BMP Signalling Pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes

Reactome (by CSHL, EBI, and GO)

Protein P12643 (Reactome details) participates in the following event(s):

R-HSA-201457 BMP2 binds to the receptor complex
R-HSA-201810 The ligand trap binds the ligand BMP2, blocking BMP signalling
R-HSA-2396399 Fibrillins bind BMPs
R-HSA-201475 I-Smad competes with R-Smad1/5/8 for type I receptor
R-HSA-201648 An anchoring protein, Endofin, recruits R-Smad1/5/8
R-HSA-201821 I-Smad binds to type I receptor, preventing Smad1/5/8 from being activated
R-HSA-201443 Type II receptor phosphorylates type I receptor
R-HSA-201453 Phospho-R-Smad1/5/8 dissociates from the receptor complex
R-HSA-201476 Activated type I receptor phosphorylates R-Smad1/5/8 directly
R-HSA-201451 Signaling by BMP
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-1566948 Elastic fibre formation
R-HSA-162582 Signal Transduction
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: BMP2A, BMP2_HUMAN, ENST00000378827.1, ENST00000378827.2, ENST00000378827.3, ENST00000378827.4, NM_001200, P12643, uc002wmu.1, uc002wmu.2, uc002wmu.3
UCSC ID: ENST00000378827.5
RefSeq Accession: NM_001200
Protein: P12643 (aka BMP2_HUMAN)
CCDS: CCDS13099.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.