Human Gene BMP3 (ENST00000282701.4_5) from GENCODE V47lift37
  Description: bone morphogenetic protein 3 (from RefSeq NM_001201.5)
Gencode Transcript: ENST00000282701.4_5
Gencode Gene: ENSG00000152785.8_8
Transcript (Including UTRs)
   Position: hg19 chr4:81,951,862-81,978,781 Size: 26,920 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr4:81,952,439-81,974,690 Size: 22,252 Coding Exon Count: 3 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:81,951,862-81,978,781)mRNA (may differ from genome)Protein (472 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP3_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 3; Short=BMP-3; AltName: Full=Bone morphogenetic protein 3A; Short=BMP-3A; AltName: Full=Osteogenin; Flags: Precursor;
FUNCTION: Negatively regulates bone density. Antagonizes the ability of certain osteogenic BMPs to induce osteoprogenitor differentitation and ossification.
SUBUNIT: Homodimer; disulfide-linked (By similarity).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in adult and fetal cartilage.
INDUCTION: Highly expressed in fracture tissue, particularly in osteoblasts, osteoclasts and chondroblasts.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 3 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_3";

-  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: BMP3
Diseases sorted by gene-association score: dentine erosion (7), chromosome 4q21 deletion syndrome (7), maturity-onset diabetes of the young (2)

-  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: 6.91 RPKM in Colon - Sigmoid
Total median expression: 33.10 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 -246.60577-0.427 Picture PostScript Text
3' UTR -920.904091-0.225 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
IPR017197 - BMP3/GDF10
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain

SCOP Domains:
57501 - Cystine-knot cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QCQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12645
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0008083 growth factor activity
GO:0070700 BMP receptor binding

Biological Process:
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0010469 regulation of receptor activity
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030154 cell differentiation
GO:0030509 BMP signaling pathway
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0048468 cell development
GO:0051216 cartilage development
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  M22491 - Human bone morphogenetic protein-3 (BMP-3) mRNA.
JD097208 - Sequence 78232 from Patent EP1572962.
JD130259 - Sequence 111283 from Patent EP1572962.
BC096269 - Homo sapiens bone morphogenetic protein 3, mRNA (cDNA clone MGC:116934 IMAGE:40006302), complete cds.
BC096270 - Homo sapiens bone morphogenetic protein 3, mRNA (cDNA clone MGC:116935 IMAGE:40006303), complete cds.
BC096271 - Homo sapiens bone morphogenetic protein 3, mRNA (cDNA clone MGC:116936 IMAGE:40006304), complete cds.
BC117514 - Homo sapiens bone morphogenetic protein 3, mRNA (cDNA clone MGC:116937 IMAGE:40006306), complete cds.
JD533770 - Sequence 514794 from Patent EP1572962.
JD446497 - Sequence 427521 from Patent EP1572962.
JD161088 - Sequence 142112 from Patent EP1572962.
JD159378 - Sequence 140402 from Patent EP1572962.
JD461563 - Sequence 442587 from Patent EP1572962.
KJ896504 - Synthetic construct Homo sapiens clone ccsbBroadEn_05898 BMP3 gene, encodes complete protein.
CQ873836 - Sequence 255 from Patent WO2004076622.
DD413673 - Regulation of Mammalian Cells.
JD261884 - Sequence 242908 from Patent EP1572962.
JD345722 - Sequence 326746 from Patent EP1572962.
JD225394 - Sequence 206418 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BMP3A, BMP3_HUMAN, ENST00000282701.1, ENST00000282701.2, ENST00000282701.3, NM_001201, P12645, Q4VAS5, uc317kam.1, uc317kam.2
UCSC ID: ENST00000282701.4_5
RefSeq Accession: NM_001201.5
Protein: P12645 (aka BMP3_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.