Gene Gene information from NCBI Gene database.
Entrez ID 7048
Gene name Transforming growth factor beta receptor 2
Gene symbol TGFBR2
Synonyms (NCBI Gene)
AAT3FAA3LDS1BLDS2LDS2BMFS2RIICTAAD2TBR-iiTBRIITGFR-2TGFbeta-RIItbetaR-II
Chromosome 3
Chromosome location 3p24.1
Summary 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.
77
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.
1022
miRTarBase ID miRNA Experiments Reference
MIRT001189 hsa-miR-21-5p qRT-PCRWestern blot 19906824
MIRT001189 hsa-miR-21-5p qRT-PCRLuciferase reporter assayWestern blot 19816956
MIRT001189 hsa-miR-21-5p qRT-PCRLuciferase reporter assayWestern blot 19816956
MIRT004591 hsa-miR-17-5p Review 20144731
MIRT004592 hsa-miR-18a-5p Review 20144731
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
EGR1 Unknown 10982796
ETS1 Activation 14976186
ETS1 Unknown 10508522
ETV4 Unknown 14976186
EWSR1 Repression 10508522
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
170
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190182 11773 ENSG00000163513
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
70
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Adenocarcinoma of the large intestine Pathogenic rs104893815 RCV006253510
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Pathogenic; Likely pathogenic rs886038794, rs886038847, rs886038787, rs104893810, rs104893811, rs104893819, rs1559472349 RCV000244146
RCV000247764
RCV000243905
RCV005628227
RCV000252297
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer, hereditary nonpolyposis, type 6 Pathogenic; Likely pathogenic rs587776769, rs104893815, rs104893819, rs1553630171 RCV000013324
RCV000013336
RCV000763512
RCV000765721
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder Pathogenic rs863223852 RCV000680613
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC ANEURYSM CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, FAMILIAL THORACIC 3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, THORACIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC DISSECTION CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abdominal Migraine Abdominal Migraine CTD_human_DG 16885183
★☆☆☆☆
Found in Text Mining only
Acute Confusional Migraine Confusional Migraine CTD_human_DG 16885183
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome 1 Adams-Oliver Syndrome BEFREE 23554019
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15976377
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17566598, 18381416, 22399565, 27835699, 9664904, 9679977
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12399125, 21911454, 22399565, 23625632, 25928368
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 9598801
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 31579415
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9566701, 9679977
★☆☆☆☆
Found in Text Mining only