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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 3p24.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (30606356..30694142)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (30608862..30696629)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (30647994..30735634)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin-specific peptidase 11 promotes development of keloid derived fibroblasts by de-ubiquitinating TGF-beta receptorII.
Title: Ubiquitin-specific peptidase 11 promotes development of keloid derived fibroblasts by de-ubiquitinating TGF-β receptorII.
Molecular insights into gastric cancer: The impact of TGFBR2 and hsa-mir-107 revealed by microarray sequencing and bioinformatics.
Title: Molecular insights into gastric cancer: The impact of TGFBR2 and hsa-mir-107 revealed by microarray sequencing and bioinformatics.
MiR-27a-3p exacerbates cell migration and invasion in right-sided/left-sided colorectal cancer by targeting TGFBR2/TCF7L2.
Title: MiR-27a-3p exacerbates cell migration and invasion in right-sided/left-sided colorectal cancer by targeting TGFBR2/TCF7L2.
Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-beta receptor type 2 axis.
Title: Declined circular RNA mitofusin 2 constrains the deterioration of Wilms tumor via modulating microRNA-372-3p/transforming growth factor-β receptor type 2 axis.
Circ_CHMP5 aggravates oxidized low-density lipoprotein-induced damage to human umbilical vein endothelial cells through miR-516b-5p/TGFbetaR2 axis.
Title: Circ_CHMP5 aggravates oxidized low-density lipoprotein-induced damage to human umbilical vein endothelial cells through miR-516b-5p/TGFβR2 axis.
TGF-betaRII/EP300/SMAD4 cascade signaling pathway promotes invasion and glycolysis in oral squamous cell carcinoma.
Title: TGF-βRII/EP300/SMAD4 cascade signaling pathway promotes invasion and glycolysis in oral squamous cell carcinoma.
Transforming growth factor beta isoforms and TGF-betaR1 and TGF-betaR2 expression in systemic sclerosis patients.
Title: Transforming growth factor beta isoforms and TGF-βR1 and TGF-βR2 expression in systemic sclerosis patients.
Proinflammatory plasticity towards Th17 paradigm of regulatory T cells consistent with elevated prevalence of TGFBR2 variants in elderly patients with primary immune thrombocytopenia.
Title: Proinflammatory plasticity towards Th17 paradigm of regulatory T cells consistent with elevated prevalence of TGFBR2 variants in elderly patients with primary immune thrombocytopenia.
Suppression of CD56[bright] NK cells in breast cancer patients is associated with the PD-1 and TGF-betaRII expression.
Title: Suppression of CD56(bright) NK cells in breast cancer patients is associated with the PD-1 and TGF-βRII expression.
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.
Title: Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.

Submit: New GeneRIF Correction See all GeneRIFs (429)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TGFBR2 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Colorectal cancer, hereditary nonpolyposis, type 6 MedGen: C1860896 OMIM: 614331 GeneReviews: Not available	Compare labs
Familial thoracic aortic aneurysm and aortic dissection MedGen: C4707243 GeneReviews: Heritable Thoracic Aortic Disease Overview	Compare labs
Loeys-Dietz syndrome 2 MedGen: C2674574 OMIM: 610168 GeneReviews: Loeys-Dietz Syndrome	Compare labs
Malignant tumor of esophagus MedGen: C0546837 OMIM: 133239 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D3S1293 (e-PCR), detects polymorphism
- UniSTS:39180

Tgfbr2 (e-PCR), detects polymorphism
- UniSTS:265759

D3S1283 (e-PCR)
- UniSTS:8756

A006H18 (e-PCR)
- UniSTS:16484

SHGC-32684 (e-PCR)
- UniSTS:66156

RH47188 (e-PCR)
- UniSTS:66157

G35010 (e-PCR)
- UniSTS:44435

D3S2336 (e-PCR), detects polymorphism
- UniSTS:67244

D3S3727 (e-PCR), detects polymorphism
- UniSTS:36038

G32353 (e-PCR)
- UniSTS:116944

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 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	IEA Inferred from Electronic Annotation more info
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	IPI Inferred from Physical Interaction 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 activation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in 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 phosphorylation	IEA Inferred from Electronic Annotation 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	IBA Inferred from Biological aspect of Ancestor 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 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

Go to the top of the page Help

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

EC 2.7.11.30

NP_001394055.1

EC 2.7.11.30

NP_001394056.1

EC 2.7.11.30

NP_001394057.1

EC 2.7.11.30

NP_001394058.1

EC 2.7.11.30

NP_001394059.1

EC 2.7.11.30

NP_001394061.1

EC 2.7.11.30

NP_001394062.1

EC 2.7.11.30

NP_001394063.1

EC 2.7.11.30

NP_001394064.1

EC 2.7.11.30

NP_001394065.1

EC 2.7.11.30

NP_001394066.1

EC 2.7.11.30

NP_001394067.1

EC 2.7.11.30

NP_001394068.1

EC 2.7.11.30

NP_003233.4

EC 2.7.11.30

XP_047304743.1

EC 2.7.11.30

XP_054203641.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_007490.1 RefSeqGene

Range

5001..92641

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_779

mRNA and Protein(s)

NM_001024847.3 → NP_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

D2JYI1

Related

ENSP00000351905.4, ENST00000359013.4

Conserved Domains (2) summary

cd14055
Location:273 → 567

STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor

pfam08917
Location:74 → 177

ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain
NM_001407126.1 → NP_001394055.1 TGF-beta receptor type-2 isoform C precursor

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407127.1 → NP_001394056.1 TGF-beta receptor type-2 isoform D precursor

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407128.1 → NP_001394057.1 TGF-beta receptor type-2 isoform E

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407129.1 → NP_001394058.1 TGF-beta receptor type-2 isoform F

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407130.1 → NP_001394059.1 TGF-beta receptor type-2 isoform G precursor

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407132.1 → NP_001394061.1 TGF-beta receptor type-2 isoform H

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407133.1 → NP_001394062.1 TGF-beta receptor type-2 isoform H

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407134.1 → NP_001394063.1 TGF-beta receptor type-2 isoform H

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407135.1 → NP_001394064.1 TGF-beta receptor type-2 isoform H

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407136.1 → NP_001394065.1 TGF-beta receptor type-2 isoform H

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407137.1 → NP_001394066.1 TGF-beta receptor type-2 isoform I precursor

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407138.1 → NP_001394067.1 TGF-beta receptor type-2 isoform J

Status: REVIEWED

Source sequence(s)

AC096921
NM_001407139.1 → NP_001394068.1 TGF-beta receptor type-2 isoform K precursor

Status: REVIEWED

Source sequence(s)

AC096921
NM_003242.6 → NP_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

A3QNQ0, W8DXU8

Related

ENSP00000295754.5, ENST00000295754.10

Conserved Domains (2) summary

cd14055
Location:248 → 542

STKc_TGFbR2_like; Catalytic domain of the Serine/Threonine Kinase, Transforming Growth Factor beta Type II Receptor

pfam08917
Location:49 → 152

ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain