TGFBR2 Gene
protein-coding GIFtS : 76
GCID: GC03 P030623
transforming growth factor, beta receptor II (70/80kDa) (Previous names: transforming growth factor, beta receptor II (70-80kD)... ) (Previous symbol: MFS2 )
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Aliasesfor TGFBR2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Transforming Growth Factor, Beta Receptor II (70/80kDa) 1 2 TGFbeta-RII2 MFS21 2 5 TbetaR-II3 TGFR-22 3 TGF-Beta Receptor Type IIB2 TGF-Beta Type II Receptor2 3 TGF-Beta Receptor Type-22 EC 2.7.11.303 8 Transforming Growth Factor Beta Receptor Type IIC2 AAT32 5 Transforming Growth Factor, Beta Receptor II (70/80kDa) Isoform 12 LDS1B2 5 Transforming Growth Factor, Beta Receptor II (70/80kDa) Isoform 22 LDS2B2 5 TbetaR-II3 Transforming Growth Factor, Beta Receptor II (70-80kD)1 TGF-Beta Receptor Type II3 FAA32 Transforming Growth Factor-Beta Receptor Type II3 RIIC2 HNPCC65 TAAD22 EC 2.7.118
Export aliases for TGFBR2 gene to outside databases Previous GC identifers: GC03M030227 GC03M029766 GC03P030497 GC03P030622
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Summariesfor TGFBR2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for TGFBR2 : This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. 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, Jul 2008) UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173 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 Gene Wiki entry for TGFBR2 (TGF beta receptor 2)
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Genomic Viewsfor TGFBR2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000003.11 NC_018914.1 NT_022517.18 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TGFBR2 gene promoter: SRY Sox5 E2F E2F-1 MyoD STAT3 Other transcription factors Search SABiosciences Chromatin IP Primers for TGFBR2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TGFBR2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3p22 Ensembl cytogenetic band: 3p24.1 HGNC cytogenetic band: 3p22 TGFBR2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03P030623: view genomic region
(about GC identifiers )
Start:
30,647,994 bp from pter
End:
30,735,634 bp from pter
Size:
87,641 bases
Orientation:
plus strand
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Proteinsfor TGFBR2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173 (See
protein sequence )Recommended Name: TGF-beta receptor type-2 precursor Size : 567 amino acids; 64568 Da
Cofactor : Magnesium or manganese (By similarity)
Subunit : Homodimer. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composedof two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGFRB1 and TGFRB2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts with DAXX. Interacts with TCTEX1D4. Interacts with ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with and is activated by SCUBE3; this interaction does not affect TGFB1-binding to TGFBR2. Interacts with VPS39; this interaction is independent of the receptor kinase activity and of the presence of TGF-beta
Subcellular location : Cell membrane; Single-pass type I membrane protein
5 PDB 3D structures from and Proteopedia for TGFBR2 :1KTZ (3D)
  1M9Z (3D)
  1PLO (3D)
  2PJY (3D)
  3KFD (3D)
 
Secondary accessions : B4DTV5 Q15580 Q6DKT6 Q99474Alternative splicing : 2 isoforms : P37173-1 P37173-2 Explore the universe of human proteins at neXtProt for TGFBR2: NX_P37173 Post-translational modifications:
Phosphorylated on a Ser/Thr residue in the cytoplasmic domain1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P37173 4/14 DME Specific Peptides for TGFBR2 (P37173 ) (see all 14 )TGFBR2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001020018.1 NP_003233.4 ENSEMBL proteins: ENSP00000295754 ENSP00000351905 Reactome Protein details: P37173 Human Recombinant Protein Products: Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7 ): About this table
TGFBR2 for ontologies About GeneDecksing TGFBR2 Antibody Products: Assay Products for TGFBR2:
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Protein
Domains / Familiesfor TGFBR2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TGFBR2 for domains About GeneDecksing 5/7 InterPro domains/families (see all 7 ):
Graphical View of Domain Structure for InterPro Entry P37173 ProtoNet protein and cluster: P37173
1 Blocks protein family : IPB000472 Domain in TGF-beta receptor/activin receptor UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173 Similarity : Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamilySimilarity : Contains 1 protein kinase domain
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Functionfor TGFBR2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173 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 Catalytic activity : ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
Genatlas biochemistry entry for TGFBR2 : transforming growth factor beta,receptor type II,75kDa,activating MADH2 and MADH3 (see TSG3B),often altered during adenoma-carcinoma progression of HNPCC,also prevalently mutated in the squamous cell carcinoma of head and neck,in pancreatic adenocarcinomas,in hepatocellular carcinoma,and in sporadic gastric cancer,inactivated in pancreatic and biliary cancers and in thyroid carcinoma,major target of the EWSR1/FLI1 chimeric oncoprotein Enzyme Numbers (IUBMB): EC 2.7.11.30 1 2 EC 2.7.11 2 miRNA Products: miRTarBase miRNAs that target TGFBR2:hsa-mir-590-5p (MIRT004619 ), hsa-mir-92a (MIRT004737 ), hsa-mir-18a (MIRT004592 ), hsa-mir-302b (MIRT005930 ), hsa-mir-372 (MIRT005931 ), hsa-mir-19a (MIRT004593 ), hsa-mir-20a (MIRT001785 ), hsa-mir-17 (MIRT004591 ), hsa-mir-19b (MIRT004594 ), hsa-mir-204 (MIRT003272 ), hsa-mir-21 (MIRT001189 ) OriGene 3'-UTR Clone (see all 2 ): TGFBR2 Browse MicroRNA Expression Plasmids QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBR2 8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBR2 (see all 99 ): hsa-miR-520f hsa-miR-520e hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-1244 hsa-miR-93 hsa-miR-130b SwitchGear 3'UTR luciferase reporter plasmid : TGFBR2 3' UTR sequence
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): TGFBR2 (NM_001024847 ) Sino Biological Human cDNA Clone for TGFBR2 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TGFBR2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TGFBR2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR2
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004675 transmembrane receptor protein serine/threonine kinase activity
IDA 12015308 GO:0004702 receptor signaling protein serine/threonine kinase activity
IEA -- GO:0005024 transforming growth factor beta-activated receptor activity
IMP 1333888 GO:0005026 transforming growth factor beta receptor activity, type II
IEA -- GO:0005515 contributes to protein binding
IPI 11157754
TGFBR2 for ontologies About GeneDecksing 6 GenomeRNAi human phenotypes for TGFBR2 :Animal Models: Mouse knock-outs for TGFBR2: Tgfbr2 tm1.1Hlm Tgfbr2 tm1Mmt Tgfbr2 tm1Sjkm Tgfbr2 tm1.1Karl 15/21 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Tgfbr2) (see all 21 ):
TGFBR2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor TGFBR2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/46 super-pathways (see all 46 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Th17 Differentiation 2 Development_CNTF receptor signaling 3 Apoptosis Pathway 4 Development_TGF-beta receptor signaling 5 Transcription_Androgen Receptor nuclear signaling
Pathway sources See GeneCards unified pathways Show all pathways 5 EMD Millipore Pathways for TGFBR2 4 R&D Systems Pathways for TGFBR2 5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFBR2 (see all 16 )1
Cell Signaling Technology (CST) Pathway for TGFBR2 4 Tocris Bioscience Pathways for TGFBR2 5/6 GeneGo (Thomson Reuters) Pathways for TGFBR2 (see all 6 )5/8 BioSystems Pathways for TGFBR2 (see all 8 ) 5/7
Reactome Pathways for TGFBR2 (see all 7 )5/11
Kegg Pathways (Kegg details for TGFBR2) (see all 11 ):
TGFBR2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFBR2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/101 Interacting proteins for TGFBR2 (P37173 1 , 2 , 3 ENSP00000351905 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 101 )Interactant Interaction Details GeneCard External ID(s) SHC1 P29353 2 , 3 , ENSP00000401303 4 MINT-8030651 I2D:
score=2 STRING: ENSP00000401303 TGFB3 P10600 2 , 3 , ENSP00000238682 4 MINT-8182884 MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 MINT-8182809 I2D:
score=6 STRING: ENSP00000238682 TGFBR1 P36897 2 , 3 , ENSP00000364133 4 MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D:
score=6 STRING: ENSP00000364133 TGFB1 P01137 1 , 2 , 3 , ENSP00000221930 4 EBI-296151,EBI-779636 MINT-7990932 MINT-8044787 I2D:
score=5 STRING: ENSP00000221930 DAXX Q9UER7 1 , 3 , ENSP00000396876 4 EBI-296151,EBI-77321 I2D:
score=2 STRING: ENSP00000396876 STRING: ENSP00000266000
About this table Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56 ): About this table
TGFBR2 for ontologies About GeneDecksing
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Drugs & Compoundsfor TGFBR2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
TGFBR2 for compounds About GeneDecksing Browse Tocris compounds for TGFBR2 4 HMDB Compounds for TGFBR2 About this table 1 DrugBank Compound for TGFBR2 About this table 10/46 Novoseek chemical compound relationships for TGFBR2 gene (see all 46 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
mononucleotide
85.8
44
10690536 (4), 10699890 (2), 17950544 (2), 9500552 (1) (see all 30 )
taad
84.4
15
16027248 (4), 19542084 (2), 16791849 (1), 16646045 (1) (see all 7 )
tgf beta1
76.1
36
17763417 (4), 10208456 (3), 19688145 (3), 11531253 (2) (see all 19 )
threonine
60.3
20
11212236 (2), 10789724 (2), 1310899 (1), 1525823 (1) (see all 17 )
serine
49
20
11212236 (2), 10789724 (2), 1310899 (1), 1525823 (1) (see all 17 )
crcs
39
4
17893910 (2), 10544223 (1), 20026115 (1)
eb 1089
35.5
1
10613355 (1)
adenylate
27.8
20
12546068 (3), 11253131 (2), 10928062 (2), 9850059 (1) (see all 9 )
polynucleotide
26.9
3
9808530 (1), 9468559 (1)
5-aza-2'deoxycytidine
23.9
5
9632722 (1), 11507078 (1), 16163707 (1)
Search CenterWatch for drugs/clinical trials and news about TGFBR2 / TGFR2
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Transcriptsfor TGFBR2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for TGFBR2 gene (2 alternative transcripts): NM_001024847.2 NM_003242.5 Unigene Cluster for TGFBR2:
Transforming growth factor, beta receptor II (70/80kDa) Hs.82028 [show with all ESTs ] Unigene Representative Sequence: BX648313 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000295754 (uc021wut.1 uc003cen.3 uc003ceo.3 ) ENST00000359013 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): TGFBR2 (NM_001024847 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TGFBR2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TGFBR2
Additional cDNA sequence: AJ786388.1 AK300383.1 AK304404.1 AK314102.1 BC040499.1 BX648313.1 D28131.1 M85079.1
9 DOTS entries : DT.453682 DT.100028901
DT.91829754 DT.95260870 DT.92437549 DT.120891788 DT.91981415 DT.95149729 DT.99993512 24/387 AceView cDNA sequences (see all 387 ):
BQ898216 BF445838 BE463606 BI770594 CA449258 BQ008609 CA421026 BI770585 BU618024 BM849154 AI185412 CD244819 AI206758 AA384371 R34684 AJ786388 CA418314 AI755235 AI949353 AI927029 AA313197 AW172530 AI888519 AI673468 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR2 About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 SP1 :     -         -             SP2 :                         SP3 :                        
ECgene alternative splicing isoforms for TGFBR2
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Expression for TGFBR2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section TGFBR2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image TGFBR2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See TGFBR2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TGFBR2 SOURCE GeneReport for Unigene cluster: Hs.82028 SABiosciences Expression via Pathway-Focused PCR Arrays including TGFBR2 (see all 7 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TGFBR2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TGFBR2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TGFBR2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TGFBR2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR2
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Orthologsfor TGFBR2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for TGFBR2 gene from 4/15 species (see all 15 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
TGFBR21
transforming growth factor, beta receptor II (70/8 more
73.69(n) 79.12(a)
 
396399 NM_205428.1 NP_990759.1
lizard (Anolis carolinensis)
Reptilia
TGFBR26
--
78(a)
1 ↔ 1
1(194655436-194688978)
African clawed frog (Xenopus laevis)
Amphibia
tgfbr2-A2
transforming growth factor, beta receptor II
76.56(n)
 
AF213685.1
zebrafish (Danio rerio)
Actinopterygii
tgfbr22
transforming growth factor, beta receptor II
78.39(n)
 
30739 AY178449.1
ENSEMBL Gene Tree for TGFBR2 (if available)TreeFam Gene Tree for TGFBR2 (if available)
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Paralogsfor TGFBR2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TGFBR2 gene ACVR1C 2 AMHR2 2 ACVR2A 2 ACVR2B 2 ACVR1B 2 TGFBR1 2 BMPR1A 2 ACVR1 2 BMPR2 2 ACVRL1 2 BMPR1B 2 10 SIMAP similar genes for TGFBR2 using alignment to 3 protein entries: TGFR2_HUMAN (see all proteins ):H_YH98E06.1 ACVR2B ACVR2A TGFBR1 ACVR1B ACVR1C BMPR1A BMPR1B BMPR2 ACVR1
TGFBR2 for paralogs About GeneDecksing
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Genomic Variantsfor TGFBR2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TGFBR2 (30647994 - 30735634 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for TGFBR2 1 Inversion : 37244 Human Gene Mutation Database (HGMD) : TGFBR2 Locus Specific Mutation Databases (LSDB): TGFBR2 SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array containing TGFBR2 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TGFBR2
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Disorders
/ Diseasesfor TGFBR2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
TGFBR2 for disorders About GeneDecksing OMIM gene information: 190182 OMIM disorders : 133239 610168 610380 UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173
Defects in TGFBR2 are the cause of hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:614331]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. HNPCC6 is a type of colorectal cancer complying with the clinical criteria of HNPCC, except that the onset of cancer was beyond 50 years of age in all cases Defects in TGFBR2 are a cause of esophageal cancer (ESCR) [MIM:133239] Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]. LDS1 is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]. An aortic aneurysm syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients. Note=TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is distinguised from LDS2B by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as LDS2B by the OMIM resource 20/179 diseases for TGFBR2 (see all 179 ): About MalaCards aortic aneurysm loeys-dietz syndrome loeys-dietz syndrome type 2b loeys-dietz syndrome type 1b marfan syndrome spinal-bulbar muscular atrophy colorectal cancer, hereditary nonpolyposis, type 6 multiple self healing squamous epithelioma marfan-like connective tissue disorder thoracic aortic aneurysm thoracic aortic aneurysms and aortic dissections estrogen-receptor negative breast cancer estrogen-receptor positive breast cancer familial thoracic aortic aneurysm and dissection normal pressure hydrocephalus sertoli cell-only syndrome familial adenomatous polyposis chronic venous leg ulcers patent ductus arteriosus connective tissue disease 6 diseases from the University of Copenhagen DISEASES database for TGFBR2 :Loeys-Dietz syndrome Carcinoma Lynch syndrome Colorectal cancer Cleft palate Aortic aneurysm 10/88 Novoseek disease relationships for TGFBR2 gene (see all 88 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
microsatellite instability
90.9
105
9330602 (3), 16635398 (3), 11751500 (2), 8900429 (2) (see all 69 )
marfan syndrome
72.4
40
15235604 (2), 19533785 (2), 18781618 (2), 16799921 (2) (see all 22 )
colorectal cancer
66.7
81
10690536 (5), 8978340 (4), 17270239 (4), 11159190 (2) (see all 43 )
gastric cancer
61.9
58
12324709 (5), 9230189 (4), 17562261 (4), 17187359 (4) (see all 27 )
colon cancer
61.5
51
16108056 (5), 17985359 (5), 14714614 (2), 20026115 (2) (see all 18 )
aortic aneurysm thoracic
61
10
19542084 (2), 16791849 (1), 18264665 (1), 16027248 (1) (see all 8 )
tumors
60.9
227
11405868 (7), 12825850 (5), 9721065 (3), 16380996 (3) (see all 99 )
cancer
55.2
95
9458298 (3), 9566701 (3), 11253131 (2), 8952554 (2) (see all 59 )
gastric carcinoma
49.4
27
19624886 (3), 9538129 (2), 12692838 (2), 8840981 (2) (see all 14 )
colorectal carcinoma
47.9
18
11319759 (2), 9330602 (2), 8952554 (2), 11212236 (1) (see all 8 )
GeneTests: TGFBR2 Thoracic Aortic Aneurysms and Aortic Dissections Loeys-Dietz Syndrome Genetic Association Database (GAD): TGFBR2 Human Genome Epidemiology (HuGE) Navigator: TGFBR2 (57 documents) Export disorders for TGFBR2 gene to outside databases
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Publicationsfor TGFBR2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for TGFBR2 gene, integrated from 9 sources (see all 910 ): (articles sorted by number of sources associating them with TGFBR2) Utopia : connect your pdf to the dynamic world of online information
Heterozygous TGFBR2 mutations in Marfan syndrome. (PubMed id 15235604) 1 , 2 , 3, 9 Mizuguchi T....Matsumoto N. (2004) A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. (PubMed id 12202987) 1 , 2 , 4, 9 Watanabe Y.... Yoshiura K. (2002) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (PubMed id 16027248) 1 , 2 , 9 Pannu H.... Milewicz D.M. (2005) A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. (PubMed id 10789724) 1 , 2 , 9 Tanaka S.... Sugimachi K. (2000) Loeys-Dietz syndrome type I and type II: clinical fin dings and novel mutations in two Italian patients. (PubMed id 19883511) 1 , 2 , 9 Drera B....Colombi M. (2009) Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996) 1 , 4, 9 Jung B....Carethers J.M. (2006) Progressive aortic root and pulmonary artery aneurysm s in a neonate with Loeys-Dietz syndrome type 1B. (PubMed id 20101701) 1 , 2 , 9 Muramatsu Y....Fukushima Y. (2010) Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. (PubMed id 11212236) 1 , 2 , 9 Luecke C.D.... Hesketh R. (2001) Genotyping of patients with sporadic and radiation-associated meningiomas. (PubMed id 15824172) 1 , 4, 9 Sadetzki S....Friedman E. (2005) Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers. (PubMed id 15305380) 1 , 4, 9 Jin Q....Forsti A. (2004)
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External Searches for TGFBR2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TGFBR2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing TGFBR2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing TGFBR2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for TGFBR2 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for TGFBR2 Genetics and Cytogenetics in Oncology and Haematology GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBR2 NIEHS-SNPs http://egp.gs.washington.edu/data/tgfbr2/
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About This Section Patent Information for TGFBR2 gene: Search GeneIP for patents involving TGFBR2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TGFBR2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for TGFBR2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TGFBR2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TGFBR2 OriGene Protein Over-expression Lysate for TGFBR2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TGFBR2 OriGene 3'-UTR Clone for TGFBR2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TGFBR2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for TGFBR2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TGFBR2 OriGene Custom Protein Services for TGFBR2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TGFBR2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TGFBR2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TGFBR2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TGFBR2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TGFBR2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TGFBR2
Antibodies & Assays for TGFBR2  
Search Tocris compounds for TGFBR2
Recombinant Protein for TGFBR2
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR2
ThermoFisher Antibodies for TGFBR2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TGFBR2
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