Human Gene BMP10 (ENST00000295379.2_7) from GENCODE V47lift37
  Description: bone morphogenetic protein 10 (from RefSeq NM_014482.3)
Gencode Transcript: ENST00000295379.2_7
Gencode Gene: ENSG00000163217.2_9
Transcript (Including UTRs)
   Position: hg19 chr2:69,088,041-69,098,529 Size: 10,489 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr2:69,092,763-69,098,490 Size: 5,728 Coding Exon Count: 2 

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 (chr2:69,088,041-69,098,529)mRNA (may differ from genome)Protein (424 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP10_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 10; Short=BMP-10; Flags: Precursor;
FUNCTION: Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth.
SUBUNIT: Homodimer; disulfide-linked (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 10 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_10";

-  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: BMP10
Diseases sorted by gene-association score: right atrial isomerism (8), feingold syndrome 1 (6), heart septal defect (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 234.52 RPKM in Heart - Atrial Appendage
Total median expression: 235.27 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 -11.8039-0.303 Picture PostScript Text
3' UTR -1361.204722-0.288 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

SCOP Domains:
57501 - Cystine-knot cytokines

ModBase Predicted Comparative 3D Structure on O95393
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005179 hormone activity
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0031433 telethonin binding
GO:0033612 receptor serine/threonine kinase binding

Biological Process:
GO:0007155 cell adhesion
GO:0007275 multicellular organism development
GO:0007507 heart development
GO:0007512 adult heart development
GO:0010469 regulation of receptor activity
GO:0010596 negative regulation of endothelial cell migration
GO:0010613 positive regulation of cardiac muscle hypertrophy
GO:0010614 negative regulation of cardiac muscle hypertrophy
GO:0010628 positive regulation of gene expression
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030308 negative regulation of cell growth
GO:0030336 negative regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0045214 sarcomere organization
GO:0045893 positive regulation of transcription, DNA-templated
GO:0055009 atrial cardiac muscle tissue morphogenesis
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0055015 ventricular cardiac muscle cell development
GO:0055117 regulation of cardiac muscle contraction
GO:0060038 cardiac muscle cell proliferation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060298 positive regulation of sarcomere organization
GO:0060347 heart trabecula formation
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060395 SMAD protein signal transduction
GO:0061036 positive regulation of cartilage development
GO:1903242 regulation of cardiac muscle hypertrophy in response to stress
GO:2000138 positive regulation of cell proliferation involved in heart morphogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0009986 cell surface
GO:0030018 Z disc


-  Descriptions from all associated GenBank mRNAs
  JD357118 - Sequence 338142 from Patent EP1572962.
BC069080 - Homo sapiens bone morphogenetic protein 10, mRNA (cDNA clone MGC:95355 IMAGE:7216894), complete cds.
AF101441 - Homo sapiens bone morphogenetic protein 10 (BMP10) mRNA, complete cds.
JD422970 - Sequence 403994 from Patent EP1572962.
BC101734 - Homo sapiens bone morphogenetic protein 10, mRNA (cDNA clone MGC:126783 IMAGE:8069240), complete cds.
BC105063 - Homo sapiens bone morphogenetic protein 10, mRNA (cDNA clone MGC:132723 IMAGE:8144066), complete cds.
JD507666 - Sequence 488690 from Patent EP1572962.
KJ898688 - Synthetic construct Homo sapiens clone ccsbBroadEn_08082 BMP10 gene, encodes complete protein.

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

Reactome (by CSHL, EBI, and GO)

Protein O95393 (Reactome details) participates in the following event(s):

R-HSA-2396399 Fibrillins bind BMPs
R-HSA-8858369 ACVRL1 binds BMP9,BMP10
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1566948 Elastic fibre formation
R-HSA-201451 Signaling by BMP
R-HSA-1474244 Extracellular matrix organization
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BMP10_HUMAN, ENST00000295379.1, NM_014482, O95393, Q53R17, Q6NTE0, uc317lli.1, uc317lli.2
UCSC ID: ENST00000295379.2_7
RefSeq Accession: NM_014482.3
Protein: O95393 (aka BMP10_HUMAN or BM10_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.