Human Gene BMP7 (ENST00000395863.8_7) from GENCODE V47lift37
  Description: bone morphogenetic protein 7 (from RefSeq NM_001719.3)
Gencode Transcript: ENST00000395863.8_7
Gencode Gene: ENSG00000101144.13_10
Transcript (Including UTRs)
   Position: hg19 chr20:55,743,809-55,841,697 Size: 97,889 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr20:55,746,015-55,841,178 Size: 95,164 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:55,743,809-55,841,697)mRNA (may differ from genome)Protein (431 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP7_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 7; Short=BMP-7; AltName: Full=Osteogenic protein 1; Short=OP-1; AltName: INN=Eptotermin alfa; Flags: Precursor;
FUNCTION: Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis.
SUBUNIT: Homodimer; disulfide-linked. Interacts with SOSTDC1. Interacts with TWSG1 (By similarity).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in the kidney and bladder. Lower levels seen in the brain.
DEVELOPMENTAL STAGE: Expressed in the developing eye, brain and ear during embryogenesis.
PTM: Several N-termini starting at positions 293, 300, 315 and 316 have been identified by direct sequencing resulting in secretion of different mature forms (PubMed:17977014).
PHARMACEUTICAL: Available under the name Osigraft (Stryker). Its use is indicated in the treatment of tibial non-union of at least 9 months duration, secondary to trauma, in skeletally mature patients, in cases where autograft has failed or is unfeasible.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 7 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_7";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BMP7
Diseases sorted by gene-association score: spondylolisthesis (23), renal fibrosis (20), ureteral obstruction (18), pauci-immune glomerulonephritis (18), spondylolysis (13), spinal stenosis (10), osteochondritis dissecans (8), keshan disease (8), diffuse pulmonary fibrosis (7), blue color blindness (6), osseous heteroplasia, progressive (6), proximal symphalangism (5), ureteral disease (4), bone deterioration disease (4), split-hand/foot malformation 4 (4), stroke, ischemic (2), bone structure disease (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.40 RPKM in Thyroid
Total median expression: 220.37 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 -306.90519-0.591 Picture PostScript Text
3' UTR -738.602206-0.335 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
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

SCOP Domains:
57501 - Cystine-knot cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BMP - X-ray MuPIT 1LX5 - X-ray MuPIT 1LXI - X-ray MuPIT 1M4U - X-ray


ModBase Predicted Comparative 3D Structure on P18075
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
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0070700 BMP receptor binding

Biological Process:
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001654 eye development
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001707 mesoderm formation
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0001837 epithelial to mesenchymal transition
GO:0003272 endocardial cushion formation
GO:0003344 pericardium morphogenesis
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0007411 axon guidance
GO:0007435 salivary gland morphogenesis
GO:0008285 negative regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0009887 animal organ morphogenesis
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0010664 negative regulation of striated muscle cell apoptotic process
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0010942 positive regulation of cell death
GO:0016358 dendrite development
GO:0021502 neural fold elevation formation
GO:0030154 cell differentiation
GO:0030326 embryonic limb morphogenesis
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030855 epithelial cell differentiation
GO:0030902 hindbrain development
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032355 response to estradiol
GO:0033280 response to vitamin D
GO:0034116 positive regulation of heterotypic cell-cell adhesion
GO:0034504 protein localization to nucleus
GO:0035239 tube morphogenesis
GO:0042325 regulation of phosphorylation
GO:0042326 negative regulation of phosphorylation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043401 steroid hormone mediated signaling pathway
GO:0043407 negative regulation of MAP kinase activity
GO:0043434 response to peptide hormone
GO:0045597 positive regulation of cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045746 negative regulation of Notch signaling pathway
GO:0045786 negative regulation of cell cycle
GO:0045839 negative regulation of mitotic nuclear division
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:0048593 camera-type eye morphogenesis
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048738 cardiac muscle tissue development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048762 mesenchymal cell differentiation
GO:0048812 neuron projection morphogenesis
GO:0050768 negative regulation of neurogenesis
GO:0051216 cartilage development
GO:0060037 pharyngeal system development
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060393 regulation of pathway-restricted SMAD protein phosphorylation
GO:0060395 SMAD protein signal transduction
GO:0060411 cardiac septum morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0060485 mesenchyme development
GO:0060548 negative regulation of cell death
GO:0060686 negative regulation of prostatic bud formation
GO:0060687 regulation of branching involved in prostate gland morphogenesis
GO:0060710 chorio-allantoic fusion
GO:0061384 heart trabecula morphogenesis
GO:0070487 monocyte aggregation
GO:0071456 cellular response to hypoxia
GO:0071773 cellular response to BMP stimulus
GO:0072040 negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis
GO:0072125 negative regulation of glomerular mesangial cell proliferation
GO:0072133 metanephric mesenchyme morphogenesis
GO:0072134 nephrogenic mesenchyme morphogenesis
GO:0072136 metanephric mesenchymal cell proliferation involved in metanephros development
GO:1900006 positive regulation of dendrite development
GO:1900106 positive regulation of hyaluranon cable assembly
GO:1901223 negative regulation of NIK/NF-kappaB signaling
GO:1905069 allantois development
GO:1905312 positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:2000121 regulation of removal of superoxide radicals

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031012 extracellular matrix
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  AK094784 - Homo sapiens cDNA FLJ37465 fis, clone BRAWH2011823, highly similar to BONE MORPHOGENETIC PROTEIN 7 PRECURSOR.
BC008584 - Homo sapiens bone morphogenetic protein 7, mRNA (cDNA clone MGC:17201 IMAGE:4183402), complete cds.
X51801 - Human OP-1 mRNA for osteogenic protein.
AK291186 - Homo sapiens cDNA FLJ78019 complete cds, highly similar to Homo sapiens bone morphogenetic protein 7 (osteogenic protein 1), mRNA.
M60316 - Human transforming growth factor-beta (tgf-beta) mRNA, complete cds.
EU679366 - Homo sapiens bone morphogenetic protein 7 mRNA, partial cds.
DQ891494 - Synthetic construct clone IMAGE:100004124; FLH177468.01X; RZPDo839A07126D bone morphogenetic protein 7 (osteogenic protein 1) (BMP7) gene, encodes complete protein.
AK312419 - Homo sapiens cDNA, FLJ92758, Homo sapiens bone morphogenetic protein 7 (osteogenic protein 1)(BMP7), mRNA.
KJ890773 - Synthetic construct Homo sapiens clone ccsbBroadEn_00167 BMP7 gene, encodes complete protein.
KR709654 - Synthetic construct Homo sapiens clone CCSBHm_00004934 BMP7 (BMP7) mRNA, encodes complete protein.
DQ894685 - Synthetic construct Homo sapiens clone IMAGE:100009145; FLH177464.01L; RZPDo839A07125D bone morphogenetic protein 7 (osteogenic protein 1) (BMP7) gene, encodes complete protein.
EU176612 - Synthetic construct Homo sapiens clone IMAGE:100011603; FLH263707.01L; RZPDo839A06126D bone morphogenetic protein 7 (osteogenic protein 1) (BMP7) gene, encodes complete protein.
AB528364 - Synthetic construct DNA, clone: pF1KB6604, Homo sapiens BMP7 gene for bone morphogenetic protein 7, without stop codon, in Flexi system.
BC004248 - Homo sapiens bone morphogenetic protein 7, mRNA (cDNA clone IMAGE:3611006), with apparent retained intron.
KJ901303 - Synthetic construct Homo sapiens clone ccsbBroadEn_10697 BMP7 gene, encodes complete protein.
CU678997 - Synthetic construct Homo sapiens gateway clone IMAGE:100019362 5' read BMP7 mRNA.
CU678634 - Synthetic construct Homo sapiens gateway clone IMAGE:100019281 5' read BMP7 mRNA.
JD041534 - Sequence 22558 from Patent EP1572962.
JD169483 - Sequence 150507 from Patent EP1572962.
JD154827 - Sequence 135851 from Patent EP1572962.
JD529305 - Sequence 510329 from Patent EP1572962.
JD133645 - Sequence 114669 from Patent EP1572962.
JD169482 - Sequence 150506 from Patent EP1572962.
JD144558 - Sequence 125582 from Patent EP1572962.
JD274887 - Sequence 255911 from Patent EP1572962.
JD274886 - Sequence 255910 from Patent EP1572962.
JD496992 - Sequence 478016 from Patent EP1572962.
JD069451 - Sequence 50475 from Patent EP1572962.
JD365432 - Sequence 346456 from Patent EP1572962.
JD075355 - Sequence 56379 from Patent EP1572962.
JD092716 - Sequence 73740 from Patent EP1572962.
JD454328 - Sequence 435352 from Patent EP1572962.
JD095457 - Sequence 76481 from Patent EP1572962.
KJ875974 - Homo sapiens bone morphogenetic protein 7 (BMP7) mRNA, partial cds.
JD476147 - Sequence 457171 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes

Reactome (by CSHL, EBI, and GO)

Protein P18075 (Reactome details) participates in the following event(s):

R-HSA-2396399 Fibrillins bind BMPs
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: BMP7_HUMAN, ENST00000395863.1, ENST00000395863.2, ENST00000395863.3, ENST00000395863.4, ENST00000395863.5, ENST00000395863.6, ENST00000395863.7, NM_001719, OP1, P18075, Q9H512, Q9NTQ7, uc318xuj.1, uc318xuj.2
UCSC ID: ENST00000395863.8_7
RefSeq Accession: NM_001719.3
Protein: P18075 (aka BMP7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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