Aliases for TGFBR2 Gene
Aliases for TGFBR2 Gene
- GeneCards Symbol: TGFBR2 2
- Transforming Growth Factor Beta Receptor 2 2 3 5
- TBR-Ii 2 3 5
- TBRII 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 48
- TbetaR-II 3 4
- TGFR-2 3 4
- MFS2 3 5
- 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 48
- LDS1B 3
- LDS2B 3
- TAAD2 3
- AAT3 3
- FAA3 3
- LDS2 3
- RIIC 3
External Ids for TGFBR2 Gene
- HGNC: 11773
- NCBI Gene: 7048
- Ensembl: ENSG00000163513
- OMIM®: 190182
- UniProtKB/Swiss-Prot: P37173
Previous HGNC Symbols for TGFBR2 Gene
- MFS2
Previous GeneCards Identifiers for TGFBR2 Gene
- GC03M030227
- GC03M029766
- GC03P030497
- GC03P030622
Summaries for TGFBR2 Gene
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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 Loss of Function of TGFBR2 in Cancer and TGF-beta receptor signaling activates SMADs. 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 ACVR2B.
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 thus regulates 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 activation of TGFBR1 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. ( TGFR2_HUMAN,P37173 )
[Isoform 1]: Has transforming growth factor beta-activated receptor activity. ( TGFR2_HUMAN,P37173 )
[Isoform 2]: Has transforming growth factor beta-activated receptor activity. ( TGFR2_HUMAN,P37173 )
[Isoform 3]: Binds TGFB1, TGFB2 and TGFB3 in the picomolar affinity range without the participation of additional receptors. Blocks activation of SMAD2 and SMAD3 by TGFB1. ( TGFR2_HUMAN,P37173 )
Additional gene information for TGFBR2 Gene
- HGNC (11773)
- NCBI Gene (7048)
- Ensembl (ENSG00000163513)
- OMIM® (190182)
- UniProtKB/Swiss-Prot (P37173)
- Open Targets Platform(ENSG00000163513)
- Monarch Initiative
- Alliance of Genome Resources
- Search for TGFBR2 at DataMed
- Search for TGFBR2 at HumanCyc