Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NR2C2 (nuclear receptor subfamily 2 group C member 2)

Identity

Alias_namesTR4
nuclear receptor subfamily 2, group C, member 2
Alias_symbol (synonym)TAK1
TR2R1
hTAK1
Other alias
HGNC (Hugo) NR2C2
LocusID (NCBI) 7182
Atlas_Id 46702
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 14947584 and ends at 15049279 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HLA-E (6p21.33) / NR2C2 (3p25.1)LOC550112 () / NR2C2 (3p25.1)MFSD11 (17q25.1) / NR2C2 (3p25.1)
NR2C2 (3p25.1) / ASCC1 (10q22.1)NR2C2 (3p25.1) / COLQ (3p25.1)NR2C2 (3p25.1) / FGD5 (3p25.1)
PRR4 (12p13.2) / NR2C2 (3p25.1)TGFBR2 (3p24.1) / NR2C2 (3p25.1)ZCCHC7 (9p13.2) / NR2C2 (3p25.1)
NR2C2 3p25.1 / ASCC1 10q22.1NR2C2 3p25.1 / COLQ 3p25.1NR2C2 3p25.1 / FGD5 3p25.1
TGFBR2 3p24.1 / NR2C2 3p25.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(3;3)(p24;p25) TGFBR2/NR2C2
NR2C2/COLQ (3p25)
NR2C2/FGD5 (3p25)
t(3;10)(p25;q22) NR2C2/ASCC1

External links

Nomenclature
HGNC (Hugo)NR2C2   7972
Cards
Entrez_Gene (NCBI)NR2C2  7182  nuclear receptor subfamily 2 group C member 2
AliasesTAK1; TR4
GeneCards (Weizmann)NR2C2
Ensembl hg19 (Hinxton)ENSG00000177463 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177463 [Gene_View]  ENSG00000177463 [Sequence]  chr3:14947584-15049279 [Contig_View]  NR2C2 [Vega]
ICGC DataPortalENSG00000177463
TCGA cBioPortalNR2C2
AceView (NCBI)NR2C2
Genatlas (Paris)NR2C2
WikiGenes7182
SOURCE (Princeton)NR2C2
Genetics Home Reference (NIH)NR2C2
Genomic and cartography
GoldenPath hg38 (UCSC)NR2C2  -     chr3:14947584-15049279 +  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NR2C2  -     3p25.1   [Description]    (hg19-Feb_2009)
GoldenPathNR2C2 - 3p25.1 [CytoView hg19]  NR2C2 - 3p25.1 [CytoView hg38]
ImmunoBaseENSG00000177463
Mapping of homologs : NCBINR2C2 [Mapview hg19]  NR2C2 [Mapview hg38]
OMIM601426   
Gene and transcription
Genbank (Entrez)AB307708 AI986459 AK091226 AK094590 AK290590
RefSeq transcript (Entrez)NM_001291694 NM_003298
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NR2C2
Cluster EST : UnigeneHs.555973 [ NCBI ]
CGAP (NCI)Hs.555973
Alternative Splicing GalleryENSG00000177463
Gene ExpressionNR2C2 [ NCBI-GEO ]   NR2C2 [ EBI - ARRAY_EXPRESS ]   NR2C2 [ SEEK ]   NR2C2 [ MEM ]
Gene Expression Viewer (FireBrowse)NR2C2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7182
GTEX Portal (Tissue expression)NR2C2
Human Protein AtlasENSG00000177463-NR2C2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49116   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49116  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49116
Splice isoforms : SwissVarP49116
PhosPhoSitePlusP49116
Domaine pattern : Prosite (Expaxy)NR_LBD (PS51843)    NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)NHR_like_dom_sf    Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)NR2C2
DMDM Disease mutations7182
Blocks (Seattle)NR2C2
PDB (RSDB)3P0U   
PDB Europe3P0U   
PDB (PDBSum)3P0U   
PDB (IMB)3P0U   
Structural Biology KnowledgeBase3P0U   
SCOP (Structural Classification of Proteins)3P0U   
CATH (Classification of proteins structures)3P0U   
SuperfamilyP49116
Human Protein Atlas [tissue]ENSG00000177463-NR2C2 [tissue]
Peptide AtlasP49116
HPRD03253
IPIIPI00749258   IPI00332451   IPI00926525   IPI00927906   IPI00902492   IPI00925614   IPI00925367   
Protein Interaction databases
DIP (DOE-UCLA)P49116
IntAct (EBI)P49116
FunCoupENSG00000177463
BioGRIDNR2C2
STRING (EMBL)NR2C2
ZODIACNR2C2
Ontologies - Pathways
QuickGOP49116
Ontology : AmiGORNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  DNA-binding transcription factor activity  steroid hormone receptor activity  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  spermatogenesis  nervous system development  zinc ion binding  cell differentiation  cell differentiation  signaling receptor activity  positive regulation of embryonic development  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  anatomical structure development  
Ontology : EGO-EBIRNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  DNA-binding transcription factor activity  steroid hormone receptor activity  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  transcription initiation from RNA polymerase II promoter  spermatogenesis  nervous system development  zinc ion binding  cell differentiation  cell differentiation  signaling receptor activity  positive regulation of embryonic development  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  anatomical structure development  
NDEx NetworkNR2C2
Atlas of Cancer Signalling NetworkNR2C2
Wikipedia pathwaysNR2C2
Orthology - Evolution
OrthoDB7182
GeneTree (enSembl)ENSG00000177463
Phylogenetic Trees/Animal Genes : TreeFamNR2C2
HOGENOMP49116
Homologs : HomoloGeneNR2C2
Homology/Alignments : Family Browser (UCSC)NR2C2
Gene fusions - Rearrangements
Fusion : MitelmanNR2C2/ASCC1 [3p25.1/10q22.1]  
Fusion : MitelmanNR2C2/COLQ [3p25.1/3p25.1]  [t(3;3)(p25;p25)]  
Fusion : MitelmanNR2C2/FGD5 [3p25.1/3p25.1]  [t(3;3)(p25;p25)]  
Fusion : MitelmanTGFBR2/NR2C2 [3p24.1/3p25.1]  [t(3;3)(p24;p25)]  
Fusion PortalNR2C2 3p25.1 ASCC1 10q22.1 BRCA
Fusion PortalNR2C2 3p25.1 COLQ 3p25.1 BRCA
Fusion PortalNR2C2 3p25.1 FGD5 3p25.1 BRCA
Fusion PortalTGFBR2 3p24.1 NR2C2 3p25.1 LUAD
Fusion : QuiverNR2C2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR2C2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR2C2
dbVarNR2C2
ClinVarNR2C2
1000_GenomesNR2C2 
Exome Variant ServerNR2C2
ExAC (Exome Aggregation Consortium)ENSG00000177463
GNOMAD BrowserENSG00000177463
Varsome BrowserNR2C2
Genetic variants : HAPMAP7182
Genomic Variants (DGV)NR2C2 [DGVbeta]
DECIPHERNR2C2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNR2C2 
Mutations
ICGC Data PortalNR2C2 
TCGA Data PortalNR2C2 
Broad Tumor PortalNR2C2
OASIS PortalNR2C2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR2C2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNR2C2
Mutations and Diseases : HGMDNR2C2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NR2C2
DgiDB (Drug Gene Interaction Database)NR2C2
DoCM (Curated mutations)NR2C2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR2C2 (select a term)
intoGenNR2C2
Cancer3DNR2C2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601426   
Orphanet
DisGeNETNR2C2
MedgenNR2C2
Genetic Testing Registry NR2C2
NextProtP49116 [Medical]
TSGene7182
GENETestsNR2C2
Target ValidationNR2C2
Huge Navigator NR2C2 [HugePedia]
snp3D : Map Gene to Disease7182
BioCentury BCIQNR2C2
ClinGenNR2C2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7182
Chemical/Pharm GKB GenePA31755
Clinical trialNR2C2
Miscellaneous
canSAR (ICR)NR2C2 (select the gene name)
DataMed IndexNR2C2
Probes
Litterature
PubMed127 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR2C2
EVEXNR2C2
GoPubMedNR2C2
iHOPNR2C2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:58:34 CET 2019
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