Human Gene BMP5 (ENST00000370830.4_7) from GENCODE V47lift37
  Description: bone morphogenetic protein 5, transcript variant 1 (from RefSeq NM_021073.4)
Gencode Transcript: ENST00000370830.4_7
Gencode Gene: ENSG00000112175.8_9
Transcript (Including UTRs)
   Position: hg19 chr6:55,618,451-55,740,388 Size: 121,938 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr6:55,620,331-55,739,663 Size: 119,333 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 (chr6:55,618,451-55,740,388)mRNA (may differ from genome)Protein (454 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP5_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 5; Short=BMP-5; Flags: Precursor;
FUNCTION: Induces cartilage and bone formation.
SUBUNIT: Homodimer; disulfide-linked (By similarity).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in the lung and liver.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 5 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_5";

-  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: BMP5
Diseases sorted by gene-association score: keshan disease (13), epileptic encephalopathy, childhood-onset (12), squamous cell papilloma (11), osteoarthritis (11), nephrosclerosis (8), persistent mullerian duct syndrome (7), meier-gorlin syndrome 1 (4)

-  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: 7.28 RPKM in Bladder
Total median expression: 33.65 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 -155.30725-0.214 Picture PostScript Text
3' UTR -391.201880-0.208 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

ModBase Predicted Comparative 3D Structure on P22003
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 orthologNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  Ensembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
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:0003272 endocardial cushion formation
GO:0003323 type B pancreatic cell development
GO:0003344 pericardium morphogenesis
GO:0007275 multicellular organism development
GO:0007389 pattern specification process
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0010469 regulation of receptor activity
GO:0010719 negative 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:0021502 neural fold elevation formation
GO:0030154 cell differentiation
GO:0030509 BMP signaling pathway
GO:0030539 male genitalia development
GO:0030902 hindbrain development
GO:0032348 negative regulation of aldosterone biosynthetic process
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway
GO:0043583 ear development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048738 cardiac muscle tissue development
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051216 cartilage development
GO:0060037 pharyngeal system development
GO:0060395 SMAD protein signal transduction
GO:0060411 cardiac septum morphogenesis
GO:0060710 chorio-allantoic fusion
GO:0061384 heart trabecula morphogenesis
GO:0071676 negative regulation of mononuclear cell migration
GO:0097065 anterior head development
GO:1900006 positive regulation of dendrite development
GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
GO:1905069 allantois development
GO:2000065 negative regulation of cortisol biosynthetic process

Cellular Component:
GO:0005575 cellular_component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  AK303576 - Homo sapiens cDNA FLJ59222 complete cds, highly similar to Bone morphogenetic protein 5 precursor.
BC027958 - Homo sapiens bone morphogenetic protein 5, mRNA (cDNA clone MGC:34244 IMAGE:5209637), complete cds.
M60314 - Homo sapiens bone morphogenetic protein 5 (BMP-5) mRNA, complete cds.
AK291559 - Homo sapiens cDNA FLJ78712 complete cds, highly similar to Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.
KC485577 - Homo sapiens bone morphogenenic protein-5 (BMP5) mRNA, complete cds.
AB527577 - Synthetic construct DNA, clone: pF1KB6672, Homo sapiens BMP5 gene for bone morphogenetic protein 5, without stop codon, in Flexi system.
KJ890772 - Synthetic construct Homo sapiens clone ccsbBroadEn_00166 BMP5 gene, encodes complete protein.
CU693346 - Synthetic construct Homo sapiens gateway clone IMAGE:100019479 5' read BMP5 mRNA.
JD450452 - Sequence 431476 from Patent EP1572962.
JD409575 - Sequence 390599 from Patent EP1572962.
JD434137 - Sequence 415161 from Patent EP1572962.
JD356976 - Sequence 338000 from Patent EP1572962.
JD082485 - Sequence 63509 from Patent EP1572962.
JD053464 - Sequence 34488 from Patent EP1572962.
JD045781 - Sequence 26805 from Patent EP1572962.
JD079003 - Sequence 60027 from Patent EP1572962.
JD362456 - Sequence 343480 from Patent EP1572962.
JD236720 - Sequence 217744 from Patent EP1572962.

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

-  Other Names for This Gene
  Alternate Gene Symbols: B4E0Y4, BMP5_HUMAN, ENST00000370830.1, ENST00000370830.2, ENST00000370830.3, NM_021073, P22003, Q9H547, Q9NTM5, uc318irl.1, uc318irl.2
UCSC ID: ENST00000370830.4_7
RefSeq Accession: NM_021073.4
Protein: P22003 (aka BMP5_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.