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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2032
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adenocarcinoma of the large intestine Pathogenic rs104893815 RCV006253510
Cardiovascular phenotype Pathogenic; Likely pathogenic rs886038794, rs886038847, rs886038787, rs104893810, rs104893811, rs104893819, rs1559472349 RCV000244146
RCV000247764
RCV000243905
RCV005628227
RCV000252297
RCV005403719
RCV005405302
Colorectal cancer, hereditary nonpolyposis, type 6 Pathogenic; Likely pathogenic rs587776769, rs104893815, rs104893819, rs1553630171 RCV000013324
RCV000013336
RCV000763512
RCV000765721
Connective tissue disorder Pathogenic rs863223852 RCV000680613
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ascending tubular aorta aneurysm Conflicting classifications of pathogenicity rs35766612 RCV000414949
Cervical cancer Uncertain significance rs528566980 RCV005922553
Congenital aneurysm of ascending aorta Conflicting classifications of pathogenicity rs112215250, rs863223838, rs35766612 RCV000148891
RCV000509415
RCV000148893
Diabetic retinopathy Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance; Likely benign; Benign rs1002352692, rs1242885838, rs113474008, rs776374040, rs727504344, rs727504343, rs200111443, rs138262219, rs780280433, rs863223837, rs768385200, rs863223838, rs565502802, rs878854612, rs146277116
View all (86 more)
RCV004034232
RCV004036533
RCV004040304
RCV004043187
RCV004019850
RCV004019849
RCV004020377
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RCV004020382
RCV004020380
RCV004020797
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RCV004021010
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RCV004021906
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RCV004374368
RCV004371994
RCV004515754
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RCV004022335
RCV004022299
RCV004022480
RCV004022298
RCV004022513
RCV004022475
RCV004022953
RCV004022692
RCV004022954
RCV004022691
RCV004023140
RCV004023610
RCV004024403
RCV004024596
RCV004024960
RCV004025936
RCV004025938
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RCV004025937
RCV004018801
RCV004026231
RCV004026465
RCV004026291
RCV004027135
RCV004027250
RCV004027269
RCV004027233
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RCV004027256
RCV004027251
RCV004029246
RCV004027737
RCV004027756
RCV004027894
RCV004027794
RCV004028574
RCV004029478
RCV004030232
RCV004030548
RCV004031006
RCV004032757
RCV004000254
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RCV004033067
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RCV004033390
RCV004033037
RCV004033399
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RCV004033342
RCV004033423
RCV004033376
RCV004032999
RCV004036080
RCV004036026
RCV004034165
Associations from Text MiningDisease 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