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    TGFBR2 transforming growth factor beta receptor 2 [ Homo sapiens (human) ]

    Gene ID: 7048, updated on 26-Jul-2021

    Summary

    Official Symbol
    TGFBR2provided by HGNC
    Official Full Name
    transforming growth factor beta receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:11773
    See related
    Ensembl:ENSG00000163513 MIM:190182
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; TGFbeta-RII
    Summary
    The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in fat (RPKM 81.0), lung (RPKM 74.9) and 25 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:
    3p24.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (30606472..30694142)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30647994..30735634)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene HNF1 motif-containing MPRA enhancer 129 Neighboring gene uncharacterized LOC105377015 Neighboring gene uncharacterized LOC105377016 Neighboring gene glutamate decarboxylase like 1 Neighboring gene uncharacterized LOC105377017 Neighboring gene formin binding protein 1 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TGFBR2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Familial thoracic aortic aneurysm and aortic dissection Compare labs
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    GeneReviews: Not available
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    GeneReviews: Not available
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    GeneReviews: Not available
    Hereditary nonpolyposis colorectal cancer type 6
    MedGen: C1860896 OMIM: 614331 GeneReviews: Not available
    Compare labs
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    GeneReviews: Not available
    Loeys-Dietz syndrome 2
    MedGen: C2674574 OMIM: 610168 GeneReviews: Loeys-Dietz Syndrome
    Compare labs
    Malignant tumor of esophagus
    MedGen: C0546837 OMIM: 133239 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-11)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2012-04-11)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with TGFBR2 PubMed
    Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables activin-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glycosaminoglycan binding 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type II IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in activin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood vessel development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in branching involved in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bronchus morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac left ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in cell proliferation involved in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in common-partner SMAD protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage chondrocyte growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inferior endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens fiber cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung lobe morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in miRNA transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myeloid dendritic cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of B cell tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of NK T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell tolerance induction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of epithelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of tolerance induction to self antigen ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secondary palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in superior endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in trachea formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tricuspid valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TGF-beta receptor type-2
    Names
    TGF-beta receptor type IIB
    TGF-beta type II receptor
    tbetaR-II
    transforming growth factor beta receptor II
    transforming growth factor beta receptor type IIC
    transforming growth factor, beta receptor II (70/80kDa)
    transforming growth factor, beta receptor II alpha
    transforming growth factor, beta receptor II beta
    transforming growth factor, beta receptor II delta
    transforming growth factor, beta receptor II epsilon
    transforming growth factor, beta receptor II gamma
    NP_001020018.1
    NP_003233.4
    XP_011532345.1
    XP_011532347.1
    XP_016862595.1

    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.

    Genomic

    1. NG_007490.1 RefSeqGene

      Range
      5001..92641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_779

    mRNA and Protein(s)

    1. NM_001024847.2NP_001020018.1  TGF-beta receptor type-2 isoform A precursor

      See identical proteins and their annotated locations for NP_001020018.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).
      Source sequence(s)
      AC096921, BC040499, D28131, DB493906
      Consensus CDS
      CCDS33727.1
      UniProtKB/Swiss-Prot
      P37173
      UniProtKB/TrEMBL
      D2JYI1
      Related
      ENSP00000351905.4, ENST00000359013.4
      Conserved Domains (2) summary
      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_003242.6NP_003233.4  TGF-beta receptor type-2 isoform B precursor

      See identical proteins and their annotated locations for NP_003233.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform B) is shorter than isoform A.
      Source sequence(s)
      AC096921, BC040499, M85079
      Consensus CDS
      CCDS2648.1
      UniProtKB/Swiss-Prot
      P37173
      UniProtKB/TrEMBL
      A3QNQ0
      Related
      ENSP00000295754.5, ENST00000295754.10
      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:49152
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      30606472..30694142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534045.3XP_011532347.1  TGF-beta receptor type-2 isoform X2

      Conserved Domains (3) summary
      smart00221
      Location:209509
      STYKc; Protein kinase; unclassified specificity
      cd14055
      Location:213507
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:14117
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    2. XM_011534043.2XP_011532345.1  TGF-beta receptor type-2 isoform X1

      Conserved Domains (3) summary
      smart00221
      Location:253553
      STYKc; Protein kinase; unclassified specificity
      cd14055
      Location:257551
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:58161
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    3. XM_017007106.1XP_016862595.1  TGF-beta receptor type-2 isoform X2

      Related
      ENST00000672866.1
      Conserved Domains (3) summary
      smart00221
      Location:209509
      STYKc; Protein kinase; unclassified specificity
      cd14055
      Location:213507
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
      pfam08917
      Location:14117
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
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