| 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. |
| Involvement in Disease: |
Hereditary non-polyposis colorectal cancer 6: 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.
Esophageal cancer: 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.
Loeys-Dietz syndrome 2: 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. |
| Sequence Similarities: |
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. |
| Post-Translational Modification: |
Phosphorylated on a Ser/Thr residue in the cytoplasmic domain. |
| Cellular Location: |
Cell membrane. Membrane raft. |
| Database Links: |
Entrez Gene: 7048?HumanEntrez Gene: 21813?MouseEntrez Gene: 81810?RatOmim: 190182?HumanSwissProt: P37173?HumanSwissProt: Q62312?MouseSwissProt: P38438?RatUnigene: 604277?HumanUnigene: 82028?HumanUnigene: 172346?MouseUnigene: 9954?Rat |
| Synonyms: |
AAT3 AntibodyFAA3 AntibodyLDS1B AntibodyLDS2 AntibodyLDS2B AntibodyMFS2 AntibodyRIIC AntibodyTAAD2 AntibodyTbetaR II AntibodyTbetaR-II AntibodyTGF beta Receptor II AntibodyTGF beta receptor type 2 AntibodyTGF beta receptor type II AntibodyTGF beta receptor type IIB AntibodyTGF beta type II receptor AntibodyTGF-beta receptor type II AntibodyTGF-beta receptor type-2 AntibodyTGF-beta type II receptor AntibodyTGF-beta-R2 AntibodyTGFB R2 AntibodyTGFbeta - RII AntibodyTGFbeta RII AntibodyTgfbr2 AntibodyTGFR-2 AntibodyTGFR2_HUMAN AntibodyTransforming growth factor beta receptor II AntibodyTransforming growth factor beta receptor type II AntibodyTransforming growth factor beta receptor type IIC AntibodyTransforming growth factor, beta receptor II (70/80kDa) Antibodytransforming growth factor, beta receptor II alpha Antibodytransforming growth factor, beta receptor II beta Antibodytransforming growth factor, beta receptor II delta Antibodytransforming growth factor, beta receptor II epsilon Antibodytransforming growth factor, beta receptor II gamma AntibodyTransforming growth factor-beta receptor type II Antibody |
| Information: |
Target information shown above is from the UniProt Consortium. |
