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    Tgfbr2 transforming growth factor, beta receptor II [ Mus musculus (house mouse) ]

    Gene ID: 21813, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tgfbr2provided by MGI
    Official Full Name
    transforming growth factor, beta receptor IIprovided by MGI
    Primary source
    MGI:MGI:98729
    See related
    Ensembl:ENSMUSG00000032440 AllianceGenome:MGI:98729
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DNIIR; RIIDN; TBR-II; TbetaRII; TbetaR-II; 1110020H15Rik
    Summary
    Enables several functions, including SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor activity. Involved in several processes, including circulatory system development; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; and skeletal system development. Acts upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of tolerance induction; and respiratory system development. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; early conceptus; embryo mesenchyme; genitourinary system; and nervous system. Used to study DiGeorge syndrome; Loeys-Dietz syndrome; cleft soft palate; lung cancer; and prostate cancer. Human ortholog(s) of this gene implicated in several diseases, including Loeys-Dietz syndrome 2; Lynch syndrome (multiple); Marfan syndrome; gastrointestinal system cancer (multiple); and mismatch repair cancer syndrome. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 56.6), subcutaneous fat pad adult (RPKM 56.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Tgfbr2 in Genome Data Viewer
    Location:
    9 F3; 9 68.39 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (115916763..116004431, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (116087695..116175363, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene glutamate decarboxylase-like 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:115986132-115986403 Neighboring gene predicted gene, 31014 Neighboring gene STARR-positive B cell enhancer ABC_E10588 Neighboring gene vaccinia related kinase 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_25413 Neighboring gene STARR-seq mESC enhancer starr_25414 Neighboring gene predicted gene, 31292 Neighboring gene STARR-positive B cell enhancer ABC_E2919 Neighboring gene predicted gene, 40582 Neighboring gene STARR-seq mESC enhancer starr_25415 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:116123514-116123697 Neighboring gene STARR-positive B cell enhancer mm9_chr9:116125815-116126116 Neighboring gene STARR-positive B cell enhancer ABC_E10589 Neighboring gene STARR-positive B cell enhancer ABC_E6810 Neighboring gene STARR-positive B cell enhancer ABC_E1396 Neighboring gene predicted gene 4668 Neighboring gene STARR-seq mESC enhancer starr_25416 Neighboring gene STARR-seq mESC enhancer starr_25417 Neighboring gene Tgfbr2 Hedgehog-responsive enhancer Neighboring gene predicted gene, 31410

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables BMP receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables activin receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycosaminoglycan binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycosaminoglycan binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mitogen-activated protein kinase kinase kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta receptor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor activity, type I IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta receptor activity, type II ISO
    Inferred from Sequence Orthology
    more info
     
    enables transforming growth factor beta receptor activity, type III IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane receptor protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables type I transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables type I transforming growth factor beta receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables type I transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables type III transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within Langerhans cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aorta morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in aortic valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in artery morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in atrioventricular valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within bronchus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within bronchus morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac left ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in cell proliferation involved in endocardial cushion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocardial cushion fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within growth plate cartilage chondrocyte growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within growth plate cartilage development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart looping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inferior endocardial cushion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens fiber cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung lobe morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mammary gland morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membranous septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in miRNA transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outflow tract septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of B cell tolerance induction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of NK T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of T cell tolerance induction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of angiogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mesenchymal cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of reactive oxygen species metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of tolerance induction to self antigen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in receptor-mediated endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of stem cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cholesterol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in roof of mouth development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in secondary palate development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in superior endocardial cushion morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within trachea formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within trachea morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in tricuspid valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in caveola ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transforming growth factor beta ligand-receptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transforming growth factor beta ligand-receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    TGF-beta receptor type-2
    Names
    TGF-beta receptor II
    TGF-beta receptor type II
    TGF-beta type II receptor
    TGFR-2
    transforming growth factor-beta receptor type II
    NP_033397.3
    NP_083851.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009371.3NP_033397.3  TGF-beta receptor type-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_033397.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK046561, AK053793, CO039384
      Consensus CDS
      CCDS23601.1
      UniProtKB/TrEMBL
      Q543C0, Q8BQS9, Q8BRS2
      Related
      ENSMUSP00000062333.5, ENSMUST00000061101.12
      Conserved Domains (3) summary
      smart00221
      Location:269566
      STYKc; Protein kinase; unclassified specificity
      cd14055
      Location:273567
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:74177
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    2. NM_029575.3NP_083851.3  TGF-beta receptor type-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_083851.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK046561, AK053793, AK148167, CO039384
      Consensus CDS
      CCDS23602.1
      UniProtKB/Swiss-Prot
      Q62312, Q63947
      UniProtKB/TrEMBL
      Q3UG22, Q91ZR8
      Related
      ENSMUSP00000035014.7, ENSMUST00000035014.8
      Conserved Domains (2) summary
      cd14055
      Location:248542
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:49159
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      115916763..116004431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)