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

    Gene ID: 7048, updated on 22-Sep-2016
    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 HPRD:01823; MIM:190182; Vega:OTTHUMG00000130569
    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; TGFR-2; TGFbeta-RII
    Summary
    This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. 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, Jul 2008]
    Orthologs
    Location:
    3p22
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (30606490..30694142)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30647994..30735634)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927995 Neighboring gene uncharacterized LOC105377013 Neighboring gene uncharacterized LOC101928015 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    NHGRI GWAS Catalog

    Description
    Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
    NHGRI GWA Catalog
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog

    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

    • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK1 signaling events, organism-specific biosystem
      ALK1 signaling events
    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
      Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 1 network, organism-specific biosystem
      Glypican 1 network
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrins in angiogenesis, organism-specific biosystem (from Pathway Interaction Database)
      Integrins in angiogenesis, organism-specific biosystem
      Integrins in angiogenesis
    • Loss of Function of SMAD2/3 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of SMAD2/3 in Cancer, organism-specific biosystemLoss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, cod...
    • Loss of Function of TGFBR1 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of TGFBR1 in Cancer, organism-specific biosystemTGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus...
    • Loss of Function of TGFBR2 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of TGFBR2 in Cancer, organism-specific biosystemLoss-of-function of transforming growth factor-beta receptor II (TGFBR2) is most prevalent in colorectal cancer. Over 60% of colorectal cancers with microsatellite instability (MSI) harbor inactivati...
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystemMutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).The SMAD2 and SMAD3 MH2 domain residue...
    • SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystem (from REACTOME)
      SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystemThe conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser46...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystemSignaling by the TGF-beta receptor complex is tumor suppressive, as it inhibits cell growth and promotes cell differentiation and apoptosis (Shipley et al. 1986, Hannon et al. 1994, Datto et al. 1995...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling Pathway, organism-specific biosystem"The TGF beta receptors TGFBR1 and TGFBR2 belong to a subfamily of membrane-bound serine/threonine kinases which are designated as Type I or II based on their structural and functional properties. Th...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
    • TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystemIn normal cells and in the early stages of cancer development, signaling by TGF-beta plays a tumor suppressive role, as SMAD2/3:SMAD4-mediated transcription inhibits cell division by downregulating M...
    • TGF-beta signaling, organism-specific biosystem (from KEGG)
      TGF-beta signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • TGF-beta signaling, conserved biosystem (from KEGG)
      TGF-beta signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
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    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
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    • TGFBR1 KD Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR1 KD Mutants in Cancer, organism-specific biosystemMutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer ...
    • TGFBR1 LBD Mutants in Cancer, organism-specific biosystem (from REACTOME)
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    • TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystemMissense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-med...
    • TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR2 MSI Frameshift Mutants in Cancer, organism-specific biosystemThe short adenine repeat in the coding sequence of TGF-beta receptor II (TGFBR2) gene is frequently targeted by loss-of-function frameshift mutations in colon cancers with microsatellite instability ...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • UCH proteinases, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    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, OTTHUMP00000208552, ENST00000359013, OTTHUMT00000341418
      Conserved Domains (3) summary
      smart00221
      Location:269569
      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_003242.5NP_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, OTTHUMP00000161128, ENST00000295754, OTTHUMT00000252994
      Conserved Domains (3) summary
      smart00221
      Location:244544
      STYKc; Protein kinase; unclassified specificity
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      30606490..30694142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534045.2XP_011532347.1  

      Conserved Domains (3) summary
      pfam08917
      Location:13116
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
      pfam00069
      Location:209499
      Pkinase; Protein kinase domain
      cd14055
      Location:213507
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
    2. XM_011534043.2XP_011532345.1  

      Conserved Domains (3) summary
      pfam08917
      Location:57160
      ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
      pfam00069
      Location:253543
      Pkinase; Protein kinase domain
      cd14055
      Location:257551
      STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor
    3. XM_017007106.1XP_016862595.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      30598177..30685783
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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