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

Gene ID: 7048, updated on 10-Oct-2024

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; AllianceGenome:HGNC:11773
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; tbetaR-II; 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
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Try the new Gene table
Try the new Transcript table

Genomic context

See TGFBR2 in Genome Data Viewer
Location:
3p24.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (30606356..30694142)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (30608862..30696629)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (30647848..30735634)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927995 Neighboring gene uncharacterized LOC105377013 Neighboring gene Sharpr-MPRA regulatory region 9798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19624 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30590862-30591747 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:30592706-30593238 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30593324-30593858 Neighboring gene long intergenic non-protein coding RNA 1985 Neighboring gene HNF1 motif-containing MPRA enhancer 129 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14158 Neighboring gene KLHL25 pseudogene 1 Neighboring gene glutamate decarboxylase like 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69439 Neighboring gene formin binding protein 1 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr3:30949959-30950520 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:31037859-31038360 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:31068205-31068399 Neighboring gene MPRA-validated peak4584 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr3:31137307-31137898 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31167054-31167555 Neighboring gene NANOG hESC enhancer GRCh37_chr3:31183687-31184252 Neighboring gene microRNA 466

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 2024-06-26)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2024-06-26)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

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
 
enables SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables activin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables activin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glycosaminoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
enables kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular adaptor activity EXP
Inferred from Experiment
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
enables transforming growth factor beta binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 
enables transforming growth factor beta receptor activity IC
Inferred by Curator
more info
PubMed 
enables transforming growth factor beta receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transforming growth factor beta receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transforming growth factor beta receptor activity, type II IDA
Inferred from Direct Assay
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
 
enables type I transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables type I transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables type III transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in Langerhans cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in activin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in aorta morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aortic valve morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in artery morphogenesis IMP
Inferred from Mutant Phenotype
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
 
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 epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
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 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 pattern specification process IBA
Inferred from Biological aspect of Ancestor
more info
 
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 SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 tolerance induction to self antigen ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein phosphorylation 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 regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cholesterol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
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 transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
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 extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
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
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
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
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of transforming growth factor beta ligand-receptor complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of transforming growth factor beta ligand-receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
TGF-beta receptor type-2
Names
TGF-beta receptor type IIB
TGF-beta type II receptor
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_001394055.1
NP_001394056.1
NP_001394057.1
NP_001394058.1
NP_001394059.1
NP_001394061.1
NP_001394062.1
NP_001394063.1
NP_001394064.1
NP_001394065.1
NP_001394066.1
NP_001394067.1
NP_001394068.1
NP_003233.4
XP_047304743.1
XP_054203641.1

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_001024847.3NP_001020018.1  TGF-beta receptor type-2 isoform A precursor

    See identical proteins and their annotated locations for NP_001020018.1

    Status: REVIEWED

    Source sequence(s)
    AC096921
    Consensus CDS
    CCDS33727.1
    UniProtKB/TrEMBL
    A0AAQ5BI03, 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_001407126.1NP_001394055.1  TGF-beta receptor type-2 isoform C precursor

    Status: REVIEWED

    Source sequence(s)
    AC096921
  3. NM_001407127.1NP_001394056.1  TGF-beta receptor type-2 isoform D precursor

    Status: REVIEWED

    Source sequence(s)
    AC096921
  4. NM_001407128.1NP_001394057.1  TGF-beta receptor type-2 isoform E

    Status: REVIEWED

    Source sequence(s)
    AC096921
  5. NM_001407129.1NP_001394058.1  TGF-beta receptor type-2 isoform F

    Status: REVIEWED

    Source sequence(s)
    AC096921
  6. NM_001407130.1NP_001394059.1  TGF-beta receptor type-2 isoform G precursor

    Status: REVIEWED

    Source sequence(s)
    AC096921
  7. NM_001407132.1NP_001394061.1  TGF-beta receptor type-2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC096921
    UniProtKB/TrEMBL
    A0AAQ5BI06
    Related
    ENSP00000519657.1, ENST00000714390.1
  8. NM_001407133.1NP_001394062.1  TGF-beta receptor type-2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC096921
    UniProtKB/TrEMBL
    A0AAQ5BI06
  9. NM_001407134.1NP_001394063.1  TGF-beta receptor type-2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC096921
    UniProtKB/TrEMBL
    A0AAQ5BI06
  10. NM_001407135.1NP_001394064.1  TGF-beta receptor type-2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC096921
    UniProtKB/TrEMBL
    A0AAQ5BI06
  11. NM_001407136.1NP_001394065.1  TGF-beta receptor type-2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC096921
    UniProtKB/TrEMBL
    A0AAQ5BI06
  12. NM_001407137.1NP_001394066.1  TGF-beta receptor type-2 isoform I precursor

    Status: REVIEWED

    Source sequence(s)
    AC096921
  13. NM_001407138.1NP_001394067.1  TGF-beta receptor type-2 isoform J

    Status: REVIEWED

    Source sequence(s)
    AC096921
  14. NM_001407139.1NP_001394068.1  TGF-beta receptor type-2 isoform K precursor

    Status: REVIEWED

    Source sequence(s)
    AC096921
  15. 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

    Source sequence(s)
    AC096921, BC040499, M85079
    Consensus CDS
    CCDS2648.1
    UniProtKB/Swiss-Prot
    B4DTV5, P37173, Q15580, Q6DKT6, Q99474
    UniProtKB/TrEMBL
    A0AAQ5BI03, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    30606356..30694142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448787.1XP_047304743.1  TGF-beta receptor type-2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    30608862..30696629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347666.1XP_054203641.1  TGF-beta receptor type-2 isoform X1