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Aliases for TGFBR2 Gene

Aliases for TGFBR2 Gene

  • Transforming Growth Factor Beta Receptor 2 2 3
  • Transforming Growth Factor Beta Receptor II 2 3 5
  • Transforming Growth Factor, Beta Receptor II (70/80kDa) 2 3
  • TGF-Beta Type II Receptor 3 4
  • EC 2.7.11.30 4 63
  • TbetaR-II 3 4
  • TGFR-2 3 4
  • Transforming Growth Factor, Beta Receptor II Epsilon 3
  • Transforming Growth Factor, Beta Receptor II Alpha 3
  • Transforming Growth Factor, Beta Receptor II Delta 3
  • Transforming Growth Factor, Beta Receptor II Gamma 3
  • Transforming Growth Factor Beta Receptor Type IIC 3
  • Transforming Growth Factor, Beta Receptor II Beta 3
  • Transforming Growth Factor-Beta Receptor Type II 4
  • TGF-Beta Receptor Type IIB 3
  • TGF-Beta Receptor Type II 4
  • TGFbeta-RII 3
  • EC 2.7.11 63
  • LDS1B 3
  • LDS2B 3
  • TAAD2 3
  • AAT3 3
  • FAA3 3
  • LDS2 3
  • RIIC 3
  • MFS2 3

External Ids for TGFBR2 Gene

Previous HGNC Symbols for TGFBR2 Gene

  • MFS2

Previous GeneCards Identifiers for TGFBR2 Gene

  • GC03M030227
  • GC03M029766
  • GC03P030497
  • GC03P030622

Summaries for TGFBR2 Gene

Entrez Gene Summary for TGFBR2 Gene

  • 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]

GeneCards Summary for TGFBR2 Gene

TGFBR2 (Transforming Growth Factor Beta Receptor 2) is a Protein Coding gene. Diseases associated with TGFBR2 include Loeys-Dietz Syndrome 2 and Esophageal Cancer. Among its related pathways are HTLV-I infection and Th17 Differentiation Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BMPR2.

UniProtKB/Swiss-Prot for TGFBR2 Gene

  • Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.

Gene Wiki entry for TGFBR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFBR2 Gene

Genomics for TGFBR2 Gene

Regulatory Elements for TGFBR2 Gene

Enhancers for TGFBR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TGFBR2 on UCSC Golden Path with GeneCards custom track

Promoters for TGFBR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TGFBR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TGFBR2 Gene

Chromosome:
3
Start:
30,606,493 bp from pter
End:
30,694,142 bp from pter
Size:
87,650 bases
Orientation:
Plus strand

Genomic View for TGFBR2 Gene

Genes around TGFBR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFBR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFBR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFBR2 Gene

Proteins for TGFBR2 Gene

  • Protein details for TGFBR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37173-TGFR2_HUMAN
    Recommended name:
    TGF-beta receptor type-2
    Protein Accession:
    P37173
    Secondary Accessions:
    • B4DTV5
    • Q15580
    • Q6DKT6
    • Q99474

    Protein attributes for TGFBR2 Gene

    Size:
    567 amino acids
    Molecular mass:
    64568 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGFRB1 and TGFRB2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts with DAXX. Interacts with TCTEX1D4. Interacts with ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with and is activated by SCUBE3; this interaction does not affect TGFB1-binding to TGFBR2. Interacts with VPS39; this interaction is independent of the receptor kinase activity and of the presence of TGF-beta.

    Three dimensional structures from OCA and Proteopedia for TGFBR2 Gene

    Alternative splice isoforms for TGFBR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFBR2 Gene

Proteomics data for TGFBR2 Gene at MOPED

Post-translational modifications for TGFBR2 Gene

  • Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.
  • Glycosylation at Thr 39, Asn 70, Asn 94, and Asn 154
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFBR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TGFBR2 Gene

Graphical View of Domain Structure for InterPro Entry

P37173

UniProtKB/Swiss-Prot:

TGFR2_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with TGFBR2: view

Function for TGFBR2 Gene

Molecular function for TGFBR2 Gene

GENATLAS Biochemistry:
transforming growth factor beta,receptor type II,75kDa,activating MADH2 and MADH3 (see TSG3B),often altered during adenoma-carcinoma progression of HNPCC,also prevalently mutated in the squamous cell carcinoma of head and neck,in pancreatic adenocarcinomas,in hepatocellular carcinoma,and in sporadic gastric cancer,inactivated in pancreatic and biliary cancers and in thyroid carcinoma,major target of the EWSR1/FLI1 chimeric oncoprotein
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot Function:
Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.

Enzyme Numbers (IUBMB) for TGFBR2 Gene

Gene Ontology (GO) - Molecular Function for TGFBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005024 transforming growth factor beta-activated receptor activity IEA,IMP 1333888
GO:0005524 ATP binding IEA --
GO:0005539 glycosaminoglycan binding IDA 7852346
GO:0034714 type III transforming growth factor beta receptor binding IDA 11157754
GO:0046332 SMAD binding IEA,IDA 11157754
genes like me logo Genes that share ontologies with TGFBR2: view
genes like me logo Genes that share phenotypes with TGFBR2: view

Human Phenotype Ontology for TGFBR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFBR2 Gene

MGI Knock Outs for TGFBR2:

Animal Model Products

miRNA for TGFBR2 Gene

miRTarBase miRNAs that target TGFBR2

No data available for Transcription Factor Targets and HOMER Transcription for TGFBR2 Gene

Localization for TGFBR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBR2 Gene

Cell membrane; Single-pass type I membrane protein. Membrane raft.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGFBR2 Gene COMPARTMENTS Subcellular localization image for TGFBR2 gene
Compartment Confidence
cytosol 5
plasma membrane 5
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGFBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA,TAS --
GO:0009986 cell surface IEA --
GO:0043235 receptor complex IEA,IDA 7852346
genes like me logo Genes that share ontologies with TGFBR2: view

Pathways & Interactions for TGFBR2 Gene

genes like me logo Genes that share pathways with TGFBR2: view

Pathways by source for TGFBR2 Gene

SIGNOR curated interactions for TGFBR2 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TGFBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development TAS 10092230
GO:0001569 patterning of blood vessels IEA,ISS --
GO:0001570 vasculogenesis IEA,ISS --
GO:0001701 in utero embryonic development IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA,ISS --
genes like me logo Genes that share ontologies with TGFBR2: view

Drugs & Compounds for TGFBR2 Gene

(30) Drugs for TGFBR2 Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pembrolizumab Approved Pharma 315
Adenosine triphosphate Approved Nutra 0
Glycerol Experimental Pharma Target 205
TG-C Pharma 0
Manganese Pharma 32

(23) Additional Compounds for TGFBR2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with TGFBR2: view

Transcripts for TGFBR2 Gene

Unigene Clusters for TGFBR2 Gene

Transforming growth factor, beta receptor II (70/80kDa):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1: - -
SP2:
SP3:

Relevant External Links for TGFBR2 Gene

GeneLoc Exon Structure for
TGFBR2
ECgene alternative splicing isoforms for
TGFBR2

Expression for TGFBR2 Gene

mRNA expression in normal human tissues for TGFBR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TGFBR2 Gene

This gene is overexpressed in Breast (38.8) and Peripheral blood mononuclear cells (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGFBR2 Gene



SOURCE GeneReport for Unigene cluster for TGFBR2 Gene Hs.82028

genes like me logo Genes that share expression patterns with TGFBR2: view

Protein tissue co-expression partners for TGFBR2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TGFBR2 Gene

Orthologs for TGFBR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TGFBR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TGFBR2 35
  • 86.36 (n)
  • 91.71 (a)
TGFBR2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBR2 35
  • 89.93 (n)
  • 93.84 (a)
TGFBR2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbr2 35
  • 87.22 (n)
  • 91.39 (a)
Tgfbr2 16
Tgfbr2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TGFBR2 35
  • 99.61 (n)
  • 100 (a)
TGFBR2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgfbr2 35
  • 86.42 (n)
  • 90.48 (a)
oppossum
(Monodelphis domestica)
Mammalia TGFBR2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBR2 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFBR2 35
  • 73.68 (n)
  • 78.97 (a)
TGFBR2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBR2 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbr2 35
  • 69.55 (n)
  • 71.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia tgfbr2-A 35
zebrafish
(Danio rerio)
Actinopterygii tgfbr2 35
  • 71.69 (n)
  • 72.02 (a)
tgfbr2 36
  • 67 (a)
OneToMany
TGFBR2 (2 of 2) 36
  • 47 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13685 35
worm
(Caenorhabditis elegans)
Secernentea daf-4 37
  • 37 (a)
sma-6 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for TGFBR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TGFBR2 Gene

ENSEMBL:
Gene Tree for TGFBR2 (if available)
TreeFam:
Gene Tree for TGFBR2 (if available)

Paralogs for TGFBR2 Gene

(9) SIMAP similar genes for TGFBR2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TGFBR2: view

Variants for TGFBR2 Gene

Sequence variations from dbSNP and Humsavar for TGFBR2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs34833812 Hereditary non-polyposis colorectal cancer 6 (HNPCC6) 30,672,127(+) GAAGA(C/T)GGAGT reference, missense
VAR_015816 Esophageal cancer (ESCR)
rs56105708 - 30,671,754(+) ACCGC(A/G)TTAAC reference, missense
rs17025864 - 30,644,758(+) ACGAC(A/G)TGATA reference, missense
rs28934568 Loeys-Dietz syndrome 2 (LDS2) 30,672,106(+) GTTCC(C/T)GACGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TGFBR2 Gene

Variant ID Type Subtype PubMed ID
nsv876664 CNV Gain 21882294
nsv7352 OTHER Inversion 18451855
nsv3748 CNV Insertion 18451855
nsv876665 CNV Gain 21882294

Variation tolerance for TGFBR2 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFBR2 Gene

Human Gene Mutation Database (HGMD)
TGFBR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBR2 Gene

Disorders for TGFBR2 Gene

MalaCards: The human disease database

(41) MalaCards diseases for TGFBR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
loeys-dietz syndrome 2
  • loeys-dietz syndrome type 2
esophageal cancer
  • esophageal cancer, somatic
colorectal cancer, hereditary nonpolyposis, type 6
  • hnpcc6
tgbfr2-related lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 6
marfan syndrome type 2
  • mfs2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TGFR2_HUMAN
  • Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269 PubMed:10789724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:9590282}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269 PubMed:15235604, ECO:0000269 PubMed:15731757, ECO:0000269 PubMed:16027248, ECO:0000269 PubMed:16251899, ECO:0000269 PubMed:19883511, ECO:0000269 PubMed:20101701, ECO:0000269 PubMed:20358619, ECO:0000269 PubMed:21949523, ECO:0000269 PubMed:22113417}. Note=The disease is caused by mutations affecting the gene represented in this entry. TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is distinguised from LDS2 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as LDS2 by the OMIM resource. {ECO:0000269 PubMed:16027248}.

Relevant External Links for TGFBR2

Genetic Association Database (GAD)
TGFBR2
Human Genome Epidemiology (HuGE) Navigator
TGFBR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGFBR2
genes like me logo Genes that share disorders with TGFBR2: view

No data available for Genatlas for TGFBR2 Gene

Publications for TGFBR2 Gene

  1. Heterozygous TGFBR2 mutations in Marfan syndrome. (PMID: 15235604) Mizuguchi T. … Matsumoto N. (Nat. Genet. 2004) 2 3 4 23 67
  2. Absence of transforming growth factor-beta type II receptor is associated with poorer prognosis in HER2-negative breast tumours. (PMID: 19914962) Paiva C.E. … Rogatto S.R. (Ann. Oncol. 2010) 3 23
  3. Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome. (PMID: 20144264) Chen J. … Tan Z. (Clin Invest Med 2010) 3 23
  4. Silencing of the transforming growth factor-beta (TGFbeta) receptor II by Kruppel-like factor 14 underscores the importance of a negative feedback mechanism in TGFbeta signaling. (PMID: 19088080) Truty M.J. … Urrutia R. (J. Biol. Chem. 2009) 3 23
  5. TGF-beta1 inhibits expression and activity of hENT1 in a nitric oxide-dependent manner in human umbilical vein endothelium. (PMID: 19193655) Vega J.L. … Sobrevia L. (Cardiovasc. Res. 2009) 3 23

Products for TGFBR2 Gene

Sources for TGFBR2 Gene

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