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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37906

FusionGeneSummary for TGFBR2_NR2C2

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBR2_NR2C2
Fusion gene ID: 37906
HgeneTgene
Gene symbol

TGFBR2

NR2C2

Gene ID

7048

7182

Gene nametransforming growth factor beta receptor 2nuclear receptor subfamily 2 group C member 2
SynonymsAAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RIITAK1|TR4
Cytomap

3p24.1

3p25.1

Type of geneprotein-codingprotein-coding
DescriptionTGF-beta receptor type-2TGF-beta receptor type IIBTGF-beta type II receptortbetaR-IItransforming growth factor beta receptor IItransforming growth factor beta receptor type IICtransforming growth factor, beta receptor II (70/80kDa)transforming grownuclear receptor subfamily 2 group C member 2Nuclear hormone receptor TR4orphan nuclear receptor TAK1orphan nuclear receptor TR4orphan receptor TR4testicular nuclear receptor 4
Modification date2018052720180519
UniProtAcc

P37173

P49116

Ensembl transtripts involved in fusion geneENST00000295754, ENST00000359013, 
ENST00000425241, ENST00000323373, 
ENST00000393102, ENST00000406272, 
ENST00000478572, 
Fusion gene scores* DoF score4 X 3 X 3=366 X 6 X 2=72
# samples 46
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TGFBR2 [Title/Abstract] AND NR2C2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTGFBR2

GO:0006468

protein phosphorylation

12015308

HgeneTGFBR2

GO:0006915

apoptotic process

17471240

HgeneTGFBR2

GO:0007179

transforming growth factor beta receptor signaling pathway

18453574

HgeneTGFBR2

GO:0010718

positive regulation of epithelial to mesenchymal transition

26459119

HgeneTGFBR2

GO:0018105

peptidyl-serine phosphorylation

12015308

HgeneTGFBR2

GO:0018107

peptidyl-threonine phosphorylation

12015308

HgeneTGFBR2

GO:0042493

response to drug

17878231

HgeneTGFBR2

GO:0060389

pathway-restricted SMAD protein phosphorylation

18453574

HgeneTGFBR2

GO:0070723

response to cholesterol

17878231

HgeneTGFBR2

GO:2000563

positive regulation of CD4-positive, alpha-beta T cell proliferation

17164348

TgeneNR2C2

GO:0045944

positive regulation of transcription by RNA polymerase II

9556573|10644740


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-MP-A4TK-01ATGFBR2chr3

30648469

+NR2C2chr3

15055096

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000295754ENST00000425241TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000295754ENST00000323373TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000295754ENST00000393102TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000295754ENST00000406272TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
5CDS-intronENST00000295754ENST00000478572TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000359013ENST00000425241TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000359013ENST00000323373TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000359013ENST00000393102TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
Frame-shiftENST00000359013ENST00000406272TGFBR2chr3

30648469

+NR2C2chr3

15055096

+
5CDS-intronENST00000359013ENST00000478572TGFBR2chr3

30648469

+NR2C2chr3

15055096

+

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FusionProtFeatures for TGFBR2_NR2C2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TGFBR2

P37173

NR2C2

P49116

Transmembrane serine/threonine kinase forming with theTGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 andTGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cellsurface to the cytoplasm and is thus regulating a plethora ofphysiological and pathological processes including cell cyclearrest in epithelial and hematopoietic cells, control ofmesenchymal cell proliferation and differentiation, wound healing,extracellular matrix production, immunosuppression andcarcinogenesis. The formation of the receptor complex composed of2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to thecytokine dimer results in the phosphorylation and the activationof TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1phosphorylates SMAD2 which dissociates from the receptor andinteracts with SMAD4. The SMAD2-SMAD4 complex is subsequentlytranslocated to the nucleus where it modulates the transcriptionof the TGF-beta-regulated genes. This constitutes the canonicalSMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.{ECO:0000269|PubMed:7774578}. Orphan nuclear receptor that can act as a repressor oractivator of transcription. An important repressor of nuclearreceptor signaling pathways such as retinoic acid receptor,retinoid X, vitamin D3 receptor, thyroid hormone receptor andestrogen receptor pathways. May regulate gene expression duringthe late phase of spermatogenesis. Together with NR2C1, forms thecore of the DRED (direct repeat erythroid-definitive) complex thatrepresses embryonic and fetal globin transcription including thatof GATA1. Binds to hormone response elements (HREs) consisting oftwo 5'-AGGTCA-3' half site direct repeat consensus sequences.Plays a fundamental role in early embryonic development andembryonic stem cells. Required for normal spermatogenesis andcerebellum development. Appears to be important forneurodevelopmentally regulated behavior (By similarity). Activatestranscriptional activity of LHCG. Antagonist of PPARA-mediatedtransactivation. {ECO:0000250, ECO:0000269|PubMed:10347174,ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920,ECO:0000269|PubMed:7779113, ECO:0000269|PubMed:9556573}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TGFBR2_NR2C2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TGFBR2_NR2C2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TGFBR2CLU, TGFBR1, TGFB3, SMURF2, SMAD7, ENG, DAB2, AP2B1, CTNNB1, TGFBR3, TGFB1, TGFB2, CCNB2, CCNB1, STRAP, PIK3R1, PIK3R2, SNX6, ACVR1, HSP90AA1, SMURF1, TSC22D1, TRAF6, MAP3K7, PAK1, CDC42, ARHGEF6, KCNK18, FBXO34, OXSR1, PPP1R16B, OCLN, APP, IQGAP1, PEG10, NRP1, TERT, PDGFRA, RCVRN, GOPC, NRP2, TRAF4, CBL, PIK3CB, CDC6, PKN3, PLEKHH3, ACVR2B, ACVR2A, PKN2, TYK2, JAK1, PIK3R3, LSR, RAB6B, RAB6A, WDR44, MARCH7, CD320, RELT, BMPR1A, ERBB2, DENND6A, FGFR1, DIP2A, PTPRS, PTPRF, EHD4, ACVR1B, NDFIP1, MFAP3, MYADM, SBF1, FMN2, FAM171A2, LRP10, CTDNEP1, SPSB1, EIF3I, DAXX, TGFBRAP1, SH3KBP1, RASSF1, TRIM25NR2C2AR, HDAC3, HDAC4, ESR1, HNF4A, NR2C2AP, RXRB, CD2AP, ITSN2, NR2C1, DNMT1, TRIM28, MTA1, HDAC1, CHD4, RBBP4, KDM1A, TAB1, RBCK1, PDLIM7, TAB2, PELI1, PELI2, TRAF6, JAZF1, NR2C2, HSP90AA1, DDB1, VPRBP, CUL4B, MLLT4, S100A4, SMARCC1, EED, RPP38, PATZ1, TANC2, RBMX2, PRPF40A, KLHL7, FOXL1, CD70, UBB, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TGFBR2_NR2C2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTGFBR2P37173DB09462GlycerinTGF-beta receptor type-2small moleculeapproved|investigational

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RelatedDiseases for TGFBR2_NR2C2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBR2C2674574Aortic aneurysm, familial thoracic 311CTD_human;ORPHANET;UNIPROT
HgeneTGFBR2C2697932Loeys-Dietz Syndrome5CTD_human
HgeneTGFBR2C0002949Aneurysm, Dissecting2CTD_human;HPO
HgeneTGFBR2C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneTGFBR2C0376634Craniofacial Abnormalities2CTD_human
HgeneTGFBR2C0920269Microsatellite Instability2CTD_human
HgeneTGFBR2C1860896COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 62UNIPROT
HgeneTGFBR2C0003486Aortic Aneurysm1CTD_human;HPO
HgeneTGFBR2C0005940Bone Diseases1CTD_human
HgeneTGFBR2C0005967Bone neoplasms1CTD_human
HgeneTGFBR2C0009375Colonic Neoplasms1CTD_human
HgeneTGFBR2C0009405Hereditary Nonpolyposis Colorectal Neoplasms1CTD_human
HgeneTGFBR2C0011881Diabetic Nephropathy1CTD_human
HgeneTGFBR2C0014859Esophageal Neoplasms1CTD_human
HgeneTGFBR2C0015393Eye Abnormalities1CTD_human
HgeneTGFBR2C0015672Fatigue1CTD_human;HPO
HgeneTGFBR2C0019294Hernia, Inguinal1CTD_human
HgeneTGFBR2C0024121Lung Neoplasms1CTD_human
HgeneTGFBR2C0024796Marfan Syndrome1CTD_human
HgeneTGFBR2C0027627Neoplasm Metastasis1CTD_human
HgeneTGFBR2C0033578Prostatic Neoplasms1CTD_human
HgeneTGFBR2C0036341Schizophrenia1PSYGENET
HgeneTGFBR2C0149931Migraine Disorders1CTD_human;HPO
HgeneTGFBR2C0152018Esophageal carcinoma1HPO;UNIPROT
HgeneTGFBR2C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneNR2C2C0014175Endometriosis1CTD_human