Human Gene TGFBR3 (ENST00000212355.9_11) from GENCODE V47lift37
  Description: transforming growth factor beta receptor 3, transcript variant 4 (from RefSeq NR_036634.2)
Gencode Transcript: ENST00000212355.9_11
Gencode Gene: ENSG00000069702.11_16
Transcript (Including UTRs)
   Position: hg19 chr1:92,145,900-92,351,708 Size: 205,809 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr1:92,149,296-92,327,088 Size: 177,793 Coding Exon Count: 16 

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 (chr1:92,145,900-92,351,708)mRNA (may differ from genome)Protein (851 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGBR3_HUMAN
DESCRIPTION: RecName: Full=Transforming growth factor beta receptor type 3; Short=TGF-beta receptor type 3; Short=TGFR-3; AltName: Full=Betaglycan; AltName: Full=Transforming growth factor beta receptor III; Short=TGF-beta receptor type III; Flags: Precursor;
FUNCTION: Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors.
SUBUNIT: Interacts with TCTEX1D4.
INTERACTION: P01137:TGFB1; NbExp=2; IntAct=EBI-2852679, EBI-779636;
SUBCELLULAR LOCATION: Secreted. Secreted, extracellular space. Cell membrane; Single-pass type I membrane protein (Potential). Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix.
PTM: Extensively modified by glycosaminoglycan groups (GAG).
SIMILARITY: Contains 1 ZP domain.
SEQUENCE CAUTION: Sequence=AAA67061.1; Type=Frameshift; Positions=70, 73, 349, 350;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TGFBR3ID42541ch1p33.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfbr3/";

-  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: TGFBR3
Diseases sorted by gene-association score: familial cerebral saccular aneurysm* (25), intermediate uveitis (13), eisenmenger syndrome (10), priapism (10), bladder urothelial carcinoma (7), vogt-koyanagi-harada disease (6), sickle cell anemia (5), taeniasis (5), bone fracture (5), cryptorchidism (2)
* = Manually curated disease association

-  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: 44.46 RPKM in Ovary
Total median expression: 647.43 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 -165.60387-0.428 Picture PostScript Text
3' UTR -862.503396-0.254 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
IPR001507 - ZP_dom
IPR017977 - ZP_dom_CS

Pfam Domains:
PF00100 - Zona pellucida-like domain

ModBase Predicted Comparative 3D Structure on Q03167
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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005114 type II transforming growth factor beta receptor binding
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0005539 glycosaminoglycan binding
GO:0008201 heparin binding
GO:0015026 coreceptor activity
GO:0017134 fibroblast growth factor binding
GO:0030165 PDZ domain binding
GO:0046332 SMAD binding
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding
GO:0070123 transforming growth factor beta receptor activity, type III

Biological Process:
GO:0001666 response to hypoxia
GO:0001837 epithelial to mesenchymal transition
GO:0001889 liver development
GO:0003007 heart morphogenesis
GO:0003150 muscular septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003223 ventricular compact myocardium morphogenesis
GO:0006955 immune response
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007181 transforming growth factor beta receptor complex assembly
GO:0016477 cell migration
GO:0030509 BMP signaling pathway
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0031100 animal organ regeneration
GO:0032354 response to follicle-stimulating hormone
GO:0034695 response to prostaglandin E
GO:0034699 response to luteinizing hormone
GO:0035556 intracellular signal transduction
GO:0043393 regulation of protein binding
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051271 negative regulation of cellular component movement
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060038 cardiac muscle cell proliferation
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060216 definitive hemopoiesis
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060318 definitive erythrocyte differentiation
GO:0060347 heart trabecula formation
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060412 ventricular septum morphogenesis
GO:0060939 epicardium-derived cardiac fibroblast cell development
GO:0060979 vasculogenesis involved in coronary vascular morphogenesis
GO:0061384 heart trabecula morphogenesis
GO:0065003 macromolecular complex assembly
GO:0046328 regulation of JNK cascade
GO:0070372 regulation of ERK1 and ERK2 cascade

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034673 inhibin-betaglycan-ActRII complex
GO:0043235 receptor complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC099914 - Homo sapiens cDNA clone IMAGE:30531563.
HG764816 - Homo sapiens mRNA for transforming growth factor, beta receptor III (TGFBR3 gene).
L07594 - Human transforming growth factor-beta type III receptor (TGF-beta) mRNA, complete cds.
AJ251961 - Homo sapiens partial mRNA for betaglycan (TBR III gene).
BC126116 - Homo sapiens transforming growth factor, beta receptor III, mRNA (cDNA clone MGC:161394 IMAGE:8991832), complete cds.
BC136295 - Homo sapiens transforming growth factor, beta receptor III, mRNA (cDNA clone MGC:167905 IMAGE:9020282), complete cds.
BC143869 - Homo sapiens cDNA clone IMAGE:9052385.
AK291345 - Homo sapiens cDNA FLJ76846 complete cds, highly similar to Homo sapiens transforming growth factor, beta receptor III (betaglycan, 300kDa) (TGFBR3), mRNA.
AK225799 - Homo sapiens mRNA for TGF-beta receptor type III precursor variant, clone: FCC130G10.
JD358967 - Sequence 339991 from Patent EP1572962.
JD364042 - Sequence 345066 from Patent EP1572962.
JD232325 - Sequence 213349 from Patent EP1572962.
JD062226 - Sequence 43250 from Patent EP1572962.
JD357792 - Sequence 338816 from Patent EP1572962.
JD322802 - Sequence 303826 from Patent EP1572962.
JD246542 - Sequence 227566 from Patent EP1572962.
JD316562 - Sequence 297586 from Patent EP1572962.
JD094946 - Sequence 75970 from Patent EP1572962.
JD404080 - Sequence 385104 from Patent EP1572962.
JD502833 - Sequence 483857 from Patent EP1572962.
JD267064 - Sequence 248088 from Patent EP1572962.
JD219154 - Sequence 200178 from Patent EP1572962.
JD126676 - Sequence 107700 from Patent EP1572962.
JD403473 - Sequence 384497 from Patent EP1572962.
JD330053 - Sequence 311077 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_alkPathway - ALK in cardiac myocytes
h_tob1Pathway - Role of Tob in T-cell activation

-  Other Names for This Gene
  Alternate Gene Symbols: A0AUW8, A8K5N0, B9EG88, ENST00000212355.1, ENST00000212355.2, ENST00000212355.3, ENST00000212355.4, ENST00000212355.5, ENST00000212355.6, ENST00000212355.7, ENST00000212355.8, NR_036634, Q03167, Q5T2T4, Q5U731, Q9UGI2, TGBR3_HUMAN, TGFBR3 , uc317clm.1, uc317clm.2
UCSC ID: ENST00000212355.9_11
RefSeq Accession: NM_003243.5
Protein: Q03167 (aka TGBR3_HUMAN or TGR3_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.