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TGFBR2 (transforming growth factor beta receptor 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7048
Gene nameGene Name - the full gene name approved by the HGNC.
Transforming growth factor beta receptor 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TGFBR2
SynonymsGene synonyms aliases
AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII, TGFR-2, TGFbeta-RII
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.1
SummarySummary of gene provided in NCBI Entrez 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]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28934568 T>C Pathogenic Missense variant, coding sequence variant
rs34833812 C>T Conflicting-interpretations-of-pathogenicity, pathogenic, benign-likely-benign, benign, likely-pathogenic, likely-benign Coding sequence variant, missense variant
rs35719192 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign Coding sequence variant, missense variant
rs35766612 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign, not-provided Coding sequence variant, missense variant
rs61732532 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant, coding sequence variant, missense variant, genic upstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001189 hsa-miR-21-5p qRT-PCR, Western blot 19906824
MIRT001189 hsa-miR-21-5p qRT-PCR, Luciferase reporter assay, Western blot, Reporter assay 19816956
MIRT001189 hsa-miR-21-5p Luciferase reporter assay, qRT-PCR, Western blot 18829576
MIRT001189 hsa-miR-21-5p Luciferase reporter assay, Western blot 22072622
MIRT001189 hsa-miR-21-5p Microarray 18591254
Transcription factors
Transcription factor Regulation Reference
EGR1 Unknown 10982796
ETS1 Activation 14976186
ETS1 Unknown 10508522
ETV4 Unknown 14976186
EWSR1 Repression 10508522
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development TAS 10092230
GO:0001569 Process Branching involved in blood vessel morphogenesis ISS
GO:0001570 Process Vasculogenesis ISS
GO:0001666 Process Response to hypoxia IEA
GO:0001701 Process In utero embryonic development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P37173
Protein name TGF-beta receptor type-2 (TGFR-2) (EC 2.7.11.30) (TGF-beta type II receptor) (Transforming growth factor-beta receptor type II) (TGF-beta receptor type II) (TbetaR-II)
Protein 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.
PDB 1KTZ , 1M9Z , 1PLO , 2PJY , 3KFD , 4P7U , 4XJJ , 5E8V , 5E8Y , 5E91 , 5E92 , 5QIN , 5TX4 , 5TY4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08917 ecTbetaR2
49 159
Transforming growth factor beta receptor 2 ectodomain
Domain
PF07714 PK_Tyr_Ser-Thr
244 538
Protein tyrosine and serine/threonine kinase
Domain
Sequence
Sequence length 567
Interactions View interactions

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