Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7048
Gene name Gene Name - the full gene name approved by the HGNC.
Transforming growth factor beta receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGFBR2
Synonyms (NCBI Gene) Gene synonyms aliases
AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII, TGFR-2, TGFbeta-RII, tbetaR-II
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p24.1
Summary Summary 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 nucle
SNPs SNP 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
miRNA miRNA 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 19816956
MIRT001189 hsa-miR-21-5p qRT-PCR, Luciferase reporter assay, Western blot 19816956
MIRT004591 hsa-miR-17-5p Review 20144731
MIRT004592 hsa-miR-18a-5p Review 20144731
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:0000166 Function Nucleotide binding IEA
GO:0001568 Process Blood vessel development TAS 10092230
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001569 Process Branching involved in blood vessel morphogenesis ISS
GO:0001570 Process Vasculogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190182 11773 ENSG00000163513
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 th
PDB 1KTZ , 1M9Z , 1PLO , 2PJY , 3KFD , 4P7U , 4XJJ , 5E8V , 5E8Y , 5E91 , 5E92 , 5QIN , 5TX4 , 5TY4 , 7DV6 , 8G4K , 8YGZ , 9B9F , 9E9G , 9FDY , 9FK5 , 9FKP
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Cytokine-cytokine receptor interaction
FoxO signaling pathway
Endocytosis
Cellular senescence
TGF-beta signaling pathway
Osteoclast differentiation
Hippo signaling pathway
Adherens junction
Th17 cell differentiation
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Chagas disease
Hepatitis B
Human T-cell leukemia virus 1 infection
Pathways in cancer
Transcriptional misregulation in cancer
Colorectal cancer
Pancreatic cancer
Chronic myeloid leukemia
Hepatocellular carcinoma
Gastric cancer
Diabetic cardiomyopathy
  Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
SMAD2/3 Phosphorylation Motif Mutants in Cancer
TGFBR2 MSI Frameshift Mutants in Cancer
TGFBR2 Kinase Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
TGFBR1 LBD Mutants in Cancer
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Colorectal Cancer colorectal cancer, hereditary nonpolyposis, type 6 rs104893815, rs587776769 N/A
Connective Tissue Disease Connective tissue disorder rs863223852 N/A
Esophagus Neoplasm Malignant tumor of esophagus rs1575166666, rs121918714 N/A
Loeys-Dietz Syndrome loeys-dietz syndrome, Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 1 rs727503472, rs104893809, rs863223852, rs104893811, rs193922664, rs727504292, rs104893812, rs1575165272, rs886039551, rs397516840, rs104893814, rs104893816, rs587782979, rs1553630426, rs863224935
View all (14 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Breast Cancer Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab) N/A N/A GWAS
Congenital Aneurysm Of Ascending Aorta congenital aneurysm of ascending aorta N/A N/A ClinVar
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 10653003, 25478808, 9876767
Adenocarcinoma Inhibit 15976377
Adenocarcinoma Bronchiolo Alveolar Associate 15976377
Adenocarcinoma Mucinous Associate 27533245
Adenocarcinoma of Lung Associate 15976377, 17653092, 32669531, 33628780
Adenocarcinoma of Lung Inhibit 34036102
Adenoma Associate 10653003
Adenoma Stimulate 27479195
Alagille Syndrome Associate 22336710
Albinism Oculocutaneous Associate 30219046