Display Settings:

Format

Send to:

Choose Destination

TGFBR2 transforming growth factor, beta receptor II (70/80kDa) [ Homo sapiens (human) ]

Gene ID: 7048, updated on 7-Aug-2014
Official Symbol
TGFBR2provided by HGNC
Official Full Name
transforming growth factor, beta receptor II (70/80kDa)provided by HGNC
Primary source
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]
See TGFBR2 in Epigenomics, MapViewer
Location:
3p22
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (30606502..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 LOC101928015 Neighboring gene glutamate decarboxylase-like 1 Neighboring gene formin binding protein 1 pseudogene 2 Neighboring gene calponin 2 pseudogene 6

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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
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

Go to the HIV-1, Human Protein Interaction Database

  • 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 ...
  • 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 ...
  • 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 SMAD4 in Cancer, organism-specific biosystem (from REACTOME)
    Loss of Function of SMAD4 in Cancer, organism-specific biosystemSMAD4 was identified as a gene homozygously deleted in ~30% of pancreatic cancers and was named DPC4 (DPC stands for deleted in pancreatic cancer). SMAD4 maps to the chromosomal band 18q21.1, and abo...
  • 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...
  • 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
  • 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...
  • SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    SMAD4 MH2 Domain Mutants in Cancer, organism-specific biosystemThe MH2 domain of SMAD4 is the most frequently mutated SMAD4 region in cancer. MH2 domain mutations result in the loss of function of SMAD4 by abrogating the formation of transcriptionally active het...
  • 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 pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • 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)
    TGFBR1 LBD Mutants in Cancer, organism-specific biosystemMutations in the ligand-binding domain (LBD) of TGF-beta receptor 1 (TGFBR1) have been reported as germline mutations in Ferguson-Smith tumor (multiple self-healing squamous epithelioma - MSSE), an a...
  • 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
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 
contributes_to 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 
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 IDA
Inferred from Direct Assay
more info
PubMed 
type I transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type III transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
cartilage development IEA
Inferred from Electronic Annotation
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
 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
heart development 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
 
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
 
organ regeneration IEA
Inferred from Electronic Annotation
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 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 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
 
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
 
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 mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
signal transduction by 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
 
vasculogenesis 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 
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-2
tbetaR-II
TGF-beta type II receptor
TGF-beta receptor type IIB
transforming growth factor beta receptor type IIC
transforming growth factor, beta receptor II beta
transforming growth factor, beta receptor II alpha
transforming growth factor, beta receptor II delta
transforming growth factor, beta receptor II gamma
transforming growth factor, beta receptor II epsilon
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 

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

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    D2JYI1
    UniProtKB/Swiss-Prot
    P37173
    Related
    ENSP00000351905, OTTHUMP00000208552, ENST00000359013, OTTHUMT00000341418
    Conserved Domains (3) summary
    pfam08917
    Location:73176
    Blast Score: 477
    ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    cd00180
    Location:275482
    Blast Score: 365
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:269559
    Blast Score: 463
    Pkinase; Protein kinase domain
  2. NM_003242.5NP_003233.4  TGF-beta receptor type-2 isoform B precursor

    See proteins identical to 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/TrEMBL
    A3QNQ0
    UniProtKB/Swiss-Prot
    P37173
    Related
    ENSP00000295754, OTTHUMP00000161128, ENST00000295754, OTTHUMT00000252994
    Conserved Domains (3) summary
    pfam08917
    Location:48151
    Blast Score: 479
    ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    cd00180
    Location:250457
    Blast Score: 365
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:244534
    Blast Score: 464
    Pkinase; Protein kinase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    30606502..30694142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713316.1XP_006713379.1  

    Conserved Domains (3) summary
    pfam08917
    Location:73176
    Blast Score: 477
    ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
    cd00180
    Location:311518
    Blast Score: 366
    PKc; Catalytic domain of Protein Kinases
    pfam00069
    Location:305595
    Blast Score: 464
    Pkinase; Protein kinase domain

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    30590599..30678240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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