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

Gene ID: 7048, updated on 29-Mar-2020

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

Genomic context

See TGFBR2 in Genome Data Viewer
Location:
3p24.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (30606472..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 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

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

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activin-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
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 
protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
 
activin receptor signaling pathway IEA
Inferred from Electronic Annotation
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
 
branching involved in blood vessel morphogenesis 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
 
cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
inferior endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
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
 
miRNA transport 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
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
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 CD4-positive, alpha-beta T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
NOT superior endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
trachea formation IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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.

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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