Tgfbr2 transforming growth factor, beta receptor II [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tgfbr2provided by MGI
Official Full Name: transforming growth factor, beta receptor IIprovided by MGI
Primary source: MGI:MGI:98729
See related: Ensembl:ENSMUSG00000032440 AllianceGenome:MGI:98729
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DNIIR; RIIDN; TBR-II; TbetaRII; TbetaR-II; 1110020H15Rik
Summary: Enables SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta-activated receptor activity. Involved in several processes, including animal organ development; circulatory system development; and positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and positive regulation of tolerance induction. Located in external side of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo mesenchyme; and genitourinary system. Used to study DiGeorge syndrome; Loeys-Dietz syndrome; cleft soft palate; and prostate cancer. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 2; Marfan syndrome; gastrointestinal system cancer (multiple); hereditary nonpolyposis colorectal cancer type 6; and pancreatic cancer. Orthologous to human TGFBR2 (transforming growth factor beta receptor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 56.6), subcutaneous fat pad adult (RPKM 56.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F3; 9 68.39 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (115916763..116004431, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (116087695..116175363, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long Non-Coding RNA Mir17hg Positively Regulates Melanogenesis by Inhibiting TGFbeta Receptor 2 under Psychological Stress.
Title: Long Non-Coding RNA Mir17hg Positively Regulates Melanogenesis by Inhibiting TGFβ Receptor 2 under Psychological Stress.
Transforming growth factor beta receptor 2 (Tgfbr2) deficiency in keratocytes results in corneal ectasia.
Title: Transforming growth factor beta receptor 2 (Tgfbr2) deficiency in keratocytes results in corneal ectasia.
miR-17-5p slows progression of hepatocellular carcinoma by downregulating TGFbetaR2.
Title: miR-17-5p slows progression of hepatocellular carcinoma by downregulating TGFβR2.
SPSB1-mediated inhibition of TGF-beta receptor-II impairs myogenesis in inflammation.
Title: SPSB1-mediated inhibition of TGF-β receptor-II impairs myogenesis in inflammation.
Neuropilin-1 interacts with VE-cadherin and TGFBR2 to stabilize adherens junctions and prevent activation of endothelium under flow.
Title: Neuropilin-1 interacts with VE-cadherin and TGFBR2 to stabilize adherens junctions and prevent activation of endothelium under flow.
Depletion of Tgfbr2 in hepatocytes alleviates liver fibrosis and restores hepatic function in fibrotic mice.
Title: Depletion of Tgfbr2 in hepatocytes alleviates liver fibrosis and restores hepatic function in fibrotic mice.
Deubiquitinating enzyme USP11 promotes renal tubular cell senescence and fibrosis via inhibiting the ubiquitin degradation of TGF-beta receptor II.
Title: Deubiquitinating enzyme USP11 promotes renal tubular cell senescence and fibrosis via inhibiting the ubiquitin degradation of TGF-β receptor II.
Loss of MMR and TGFBR2 Increases the Susceptibility to Microbiota-Dependent Inflammation-Associated Colon Cancer.
Title: Loss of MMR and TGFBR2 Increases the Susceptibility to Microbiota-Dependent Inflammation-Associated Colon Cancer.
SMAD4 and TGFbeta are architects of inverse genetic programs during fate determination of antiviral CTLs.
Title: SMAD4 and TGFβ are architects of inverse genetic programs during fate determination of antiviral CTLs.
Blockade of TGF-beta (Transforming Growth Factor Beta) Signaling by Deletion of Tgfbr2 in Smooth Muscle Cells of 11-Month-Old Mice Alters Aortic Structure and Causes Vasomotor Dysfunction-Brief Report.
Title: Blockade of TGF-β (Transforming Growth Factor Beta) Signaling by Deletion of Tgfbr2 in Smooth Muscle Cells of 11-Month-Old Mice Alters Aortic Structure and Causes Vasomotor Dysfunction-Brief Report.

Submit: New GeneRIF Correction See all GeneRIFs (162)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (11) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

Tgfbr2 (e-PCR), detects polymorphism
- UniSTS:496701

Tgfbr2 (e-PCR), detects polymorphism
- UniSTS:526948

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AU042018 (e-PCR)
- UniSTS:159931

NoName (e-PCR)
- UniSTS:224191

NoName (e-PCR)
- UniSTS:548553

NoName (e-PCR)
- UniSTS:548568

NoName (e-PCR)
- UniSTS:236275

Gene Ontology Provided by MGI

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 SMAD binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables mitogen-activated protein kinase kinase kinase binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables transforming growth factor beta receptor activity	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity, type II	ISO Inferred from Sequence Orthology more info
enables transmembrane receptor protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables type III transforming growth factor beta receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Langerhans cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in animal organ morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in aorta morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in aortic valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in artery morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in atrioventricular valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bronchus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bronchus morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac left ventricle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
NOT involved_in cell proliferation involved in endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within growth plate cartilage chondrocyte growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within growth plate cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inferior endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens fiber cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung lobe morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mammary gland morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membranous septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in miRNA transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of B cell tolerance induction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of CD4-positive, alpha-beta T cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of NK T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of T cell tolerance induction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smooth muscle cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of tolerance induction to self antigen	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein phosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of stem cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cholesterol	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cholesterol	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
involved_in roof of mouth development	ISO Inferred from Sequence Orthology more info
involved_in secondary palate development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in superior endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within trachea formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within trachea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in tricuspid valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	ISO Inferred from Sequence Orthology more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info
part_of transforming growth factor beta ligand-receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TGF-beta receptor type-2

Names: TGF-beta receptor II; TGF-beta receptor type II; TGF-beta type II receptor; TGFR-2; transforming growth factor-beta receptor type II

NP_033397.3

EC 2.7.11.30

NP_083851.3

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_009371.3 → NP_033397.3 TGF-beta receptor type-2 isoform 1 precursor

See identical proteins and their annotated locations for NP_033397.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK046561, AK053793, CO039384

Consensus CDS

CCDS23601.1

UniProtKB/TrEMBL

Q543C0, Q8BQS9, Q8BRS2

Related

ENSMUSP00000062333.5, ENSMUST00000061101.12

Conserved Domains (3) summary

smart00221
Location:269 → 566

STYKc; Protein kinase; unclassified specificity

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_029575.3 → NP_083851.3 TGF-beta receptor type-2 isoform 2 precursor

See identical proteins and their annotated locations for NP_083851.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AK046561, AK053793, AK148167, CO039384

Consensus CDS

CCDS23602.1

UniProtKB/Swiss-Prot

Q62312, Q63947

UniProtKB/TrEMBL

Q3UG22, Q91ZR8

Related

ENSMUSP00000035014.7, ENSMUST00000035014.8

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 → 159

ecTbetaR2; Transforming growth factor beta receptor 2 ectodomain