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... See more...

Aliases for TGFBR2 Gene

Aliases for TGFBR2 Gene

  • Transforming Growth Factor Beta Receptor 2 2 3 5
  • Transforming Growth Factor, Beta Receptor II (70/80kDa) 2 3
  • Transforming Growth Factor Beta Receptor II 2 3
  • TGF-Beta Type II Receptor 3 4
  • TGF-Beta Receptor Type-2 3 4
  • EC 2.7.11.30 4 54
  • 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 54
  • TBR-Ii 3
  • LDS1B 3
  • LDS2B 3
  • TAAD2 3
  • TBRII 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

  • 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]

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 Colorectal Cancer, Hereditary Nonpolyposis, Type 6. Among its related pathways are Transcription Androgen Receptor nuclear signaling and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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 ACVR2A.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TGFBR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFBR2 Gene

Genomics for TGFBR2 Gene

GeneHancer (GH) Regulatory Elements for TGFBR2 Gene

Promoters and enhancers for TGFBR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J030602 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 751.9 +3.2 3211 13.9 ZNF785 ZNF24 ZBTB6 FOXA1 MLX RBPJ POLR2A TCF7L2 CREB1 MIXL1 TGFBR2 LINC01985 LOC105377015 lnc-GADL1-11 piR-50437-460
GH03J031356 Enhancer 1 Ensembl ENCODE 11.7 +750.7 750742 1.1 SMARCE1 HLF L3MBTL2 ZFX MAFK BACH1 SMARCA4 ZNF639 TRIM24 GMEB1 TGFBR2 LINC01985 lnc-OSBPL10-5 piR-36588-273
GH03J031507 Enhancer 0.6 Ensembl 10 +902.2 902208 1.8 MAFK IKZF1 ZNF512 IKZF2 YBX1 DPF2 HDGF NBN ZNF366 BATF STT3B ENSG00000261468 LINC01985 TGFBR2 lnc-OSBPL10-3 HSALNG0024955
GH03J030679 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.5 +79.2 79208 18.6 ZNF24 CTCF LCORL POLR2A NR2F6 ATF1 CREB1 MAX RAD21 ZNF652 GADL1 TGFBR2 ENSG00000261468 lnc-GADL1-4
GH03J030341 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 3.6 -256.9 -256867 18.4 SIN3A MLX RBPJ POLR2A NR2F6 CREB1 MIXL1 HLF NFIB ZNF652 LOC101927995 lnc-TGFBR2-3 lnc-TGFBR2-5 ENSG00000199927 TGFBR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFBR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFBR2 gene promoter:
  • E2F
  • E2F-1
  • MyoD
  • Sox5
  • SRY
  • STAT3

Genomic Locations for TGFBR2 Gene

Genomic Locations for TGFBR2 Gene
chr3:30,606,493-30,694,142
(GRCh38/hg38)
Size:
87,650 bases
Orientation:
Plus strand
chr3:30,647,994-30,735,634
(GRCh37/hg19)
Size:
87,641 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. Interacts with CLU (PubMed:8555189).

    Three dimensional structures from OCA and Proteopedia for TGFBR2 Gene

    Alternative splice isoforms for TGFBR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFBR2 Gene

Selected DME Specific Peptides for TGFBR2 Gene

P37173:
  • HRDLKSSN
  • GNLQEYLTRH
  • VAVKIFP
  • WLITAFH
  • SLARGIAHLHSDHTPCGRPK
  • VKNDLTC
  • LCKFCDV
  • SDISSTCANNINHNTELLPIELD
  • NLKHENILQFLTAEERKT
  • RYMAPEVL
  • YMAPEVL
  • EARLTAQC
  • STCDNQKSC
  • IVHRDLK

Post-translational modifications for TGFBR2 Gene

  • Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.
  • Glycosylation at Thr39, Asn70, Asn94, Asn154, Asn266, and Asn564
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TGFR2_HUMAN (1979)

Other Protein References for TGFBR2 Gene

Antibody Products

Protein Products

  • Novus Biologicals lysates for TGFBR2

Domains & Families for TGFBR2 Gene

Gene Families for TGFBR2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TGFBR2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94789, highly similar to Homo sapiens transforming growth factor, beta receptor II(70/80kDa) (TGFBR2), mRNA (A3QNQ0_HUMAN)
  • Transforming growth factor, beta receptor II (70/80kDa) isoform 2 (D2JYI1_HUMAN)
  • Transforming growth factor-beta receptor type II (TGFR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37173

UniProtKB/Swiss-Prot:

TGFR2_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-threonine + ATP = [receptor-protein]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:44880, Rhea:RHEA-COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[receptor-protein]-L-serine + ATP = [receptor-protein]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30;.
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

Enzyme Numbers (IUBMB) for TGFBR2 Gene

Phenotypes From GWAS Catalog for TGFBR2 Gene

Gene Ontology (GO) - Molecular Function for TGFBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004675 transmembrane receptor protein serine/threonine kinase activity IDA 12015308
GO:0005024 transforming growth factor beta-activated receptor activity IMP 1333888
GO:0005026 transforming growth factor beta receptor activity, type II IBA 21873635
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

CRISPR Products

miRNA for TGFBR2 Gene

miRTarBase miRNAs that target TGFBR2

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFBR2 gene
Compartment Confidence
plasma membrane 5
cytosol 4
extracellular 3
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TGFBR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IEA 21873635
GO:0005901 caveola IDA 17878231
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

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 branching involved in blood vessel morphogenesis ISS --
GO:0001570 vasculogenesis ISS --
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with TGFBR2: view

Drugs & Compounds for TGFBR2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Target 202
Foreskin fibroblast (neonatal) Approved Pharma Target, agonist 0
Foreskin keratinocyte (neonatal) Approved Pharma Target, agonist 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1326

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with TGFBR2: view

Transcripts for TGFBR2 Gene

mRNA/cDNA for TGFBR2 Gene

(2) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(387) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TGFBR2 Gene



Protein tissue co-expression partners for TGFBR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGFBR2 Gene:

TGFBR2

SOURCE GeneReport for Unigene cluster for TGFBR2 Gene:

Hs.82028

Evidence on tissue expression from TISSUES for TGFBR2 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Intestine(3.4)
  • Lung(3)
  • Blood(2.8)
  • Heart(2.8)
  • Muscle(2.8)
  • Kidney(2.6)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Gall bladder(2.4)
  • Skin(2.4)
  • Stomach(2.3)
  • Eye(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFBR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • pharynx
  • skull
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • rectum
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TGFBR2: view

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
chimpanzee
(Pan troglodytes)
Mammalia TGFBR2 33 32
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBR2 33 32
  • 89.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbr2 17 33 32
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Tgfbr2 32
  • 86.42 (n)
cow
(Bos Taurus)
Mammalia TGFBR2 33 32
  • 86.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGFBR2 33
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBR2 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFBR2 33 32
  • 73.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBR2 33
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbr2 32
  • 69.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia tgfbr2-A 32
zebrafish
(Danio rerio)
Actinopterygii tgfbr2 33 32 32
  • 71.69 (n)
OneToMany
TGFBR2 (2 of 2) 33
  • 47 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13685 32
worm
(Caenorhabditis elegans)
Secernentea daf-4 34
  • 37 (a)
sma-6 33
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 32 (a)
OneToOne
Species where no ortholog for TGFBR2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TGFBR2: view image

Paralogs for TGFBR2 Gene

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

  • TGFR2_HUMAN
  • A3QNQ0_HUMAN
  • D2JYI1_HUMAN
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 Variation AA Info Type
rs1026852885 uncertain-significance, Thoracic aortic aneurysm and aortic dissection 30,672,443(+) T/A intron_variant
rs104893807 pathogenic, Thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] 30,674,196(+) C/G/T coding_sequence_variant, missense_variant
rs104893809 pathogenic, Loeys-Dietz syndrome 2, not provided, Thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] 30,691,504(+) C/T coding_sequence_variant, missense_variant
rs104893810 pathogenic, Loeys-Dietz syndrome 2, not provided, Thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] 30,691,477(+) C/T coding_sequence_variant, missense_variant
rs104893811 pathogenic, Loeys-Dietz syndrome 2, not provided, Cardiovascular phenotype, Thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] 30,674,228(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv3748 CNV insertion 18451855
nsv590028 CNV loss 21841781
nsv7352 OTHER inversion 18451855
nsv954457 CNV duplication 24416366

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)

Additional Variant Information for TGFBR2 Gene

Human Gene Mutation Database (HGMD)
TGFBR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFBR2

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

Disorders for TGFBR2 Gene

MalaCards: The human disease database

(54) MalaCards diseases for TGFBR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TGFR2_HUMAN
  • 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.
  • 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.
  • 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:19533785, 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}.

Additional Disease Information for TGFBR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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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 (Nature genetics 2004) 2 3 4 23 56
  2. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. (PMID: 19533785) Chung BH … Lau YL (American journal of medical genetics. Part A 2009) 3 4 43 56
  3. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. (PMID: 19542084) Tran-Fadulu V … Milewicz DM (Journal of medical genetics 2009) 3 23 43 56
  4. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. (PMID: 18781618) Stheneur C … Boileau C (Human mutation 2008) 3 23 43 56
  5. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. (PMID: 18721526) Arrington CB … Bowles NE (The American journal of cardiology 2008) 3 23 43 56

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