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NR2C1 (nuclear receptor subfamily 2 group C member 1)

Identity

Alias_namesTR2
nuclear receptor subfamily 2
Alias_symbol (synonym)TR2-11
Other alias
HGNC (Hugo) NR2C1
LocusID (NCBI) 7181
Atlas_Id 45733
Location 12q22  [Link to chromosome band 12q22]
Location_base_pair Starts at 95424185 and ends at 95467404 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CAMKK2 (12q24.31) / NR2C1 (12q22)CAMKK2 12q24.31 / NR2C1 12q22

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

 


External links

Nomenclature
HGNC (Hugo)NR2C1   7971
Cards
Entrez_Gene (NCBI)NR2C1  7181  nuclear receptor subfamily 2 group C member 1
AliasesTR2
GeneCards (Weizmann)NR2C1
Ensembl hg19 (Hinxton)ENSG00000120798 [Gene_View]  chr12:95424185-95467404 [Contig_View]  NR2C1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000120798 [Gene_View]  chr12:95424185-95467404 [Contig_View]  NR2C1 [Vega]
ICGC DataPortalENSG00000120798
TCGA cBioPortalNR2C1
AceView (NCBI)NR2C1
Genatlas (Paris)NR2C1
WikiGenes7181
SOURCE (Princeton)NR2C1
Genetics Home Reference (NIH)NR2C1
Genomic and cartography
GoldenPath hg19 (UCSC)NR2C1  -     chr12:95424185-95467404 -  12q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NR2C1  -     12q22   [Description]    (hg38-Dec_2013)
EnsemblNR2C1 - 12q22 [CytoView hg19]  NR2C1 - 12q22 [CytoView hg38]
Mapping of homologs : NCBINR2C1 [Mapview hg19]  NR2C1 [Mapview hg38]
OMIM601529   
Gene and transcription
Genbank (Entrez)AB307707 AK291319 BC026074 BC040141 BE676699
RefSeq transcript (Entrez)NM_001032287 NM_001127362 NM_003297
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)NR2C1
Cluster EST : UnigeneHs.707524 [ NCBI ]
CGAP (NCI)Hs.707524
Alternative Splicing GalleryENSG00000120798
Gene ExpressionNR2C1 [ NCBI-GEO ]   NR2C1 [ EBI - ARRAY_EXPRESS ]   NR2C1 [ SEEK ]   NR2C1 [ MEM ]
Gene Expression Viewer (FireBrowse)NR2C1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7181
GTEX Portal (Tissue expression)NR2C1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13056   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13056  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13056
Splice isoforms : SwissVarP13056
PhosPhoSitePlusP13056
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)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)NR2C1
DMDM Disease mutations7181
Blocks (Seattle)NR2C1
SuperfamilyP13056
Human Protein AtlasENSG00000120798
Peptide AtlasP13056
HPRD03318
IPIIPI00019051   IPI00798023   IPI00334759   IPI01022594   IPI01021417   IPI01020983   
Protein Interaction databases
DIP (DOE-UCLA)P13056
IntAct (EBI)P13056
FunCoupENSG00000120798
BioGRIDNR2C1
STRING (EMBL)NR2C1
ZODIACNR2C1
Ontologies - Pathways
QuickGOP13056
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  steroid hormone receptor activity  receptor activity  protein binding  nucleoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  PML body  protein homodimerization activity  histone deacetylase binding  steroid hormone mediated signaling pathway  positive regulation of retinoic acid receptor signaling pathway  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  steroid hormone receptor activity  receptor activity  protein binding  nucleoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  PML body  protein homodimerization activity  histone deacetylase binding  steroid hormone mediated signaling pathway  positive regulation of retinoic acid receptor signaling pathway  
NDEx NetworkNR2C1
Atlas of Cancer Signalling NetworkNR2C1
Wikipedia pathwaysNR2C1
Orthology - Evolution
OrthoDB7181
GeneTree (enSembl)ENSG00000120798
Phylogenetic Trees/Animal Genes : TreeFamNR2C1
HOVERGENP13056
HOGENOMP13056
Homologs : HomoloGeneNR2C1
Homology/Alignments : Family Browser (UCSC)NR2C1
Gene fusions - Rearrangements
Fusion : MitelmanCAMKK2/NR2C1 [12q24.31/12q22]  [t(12;12)(q22;q24)]  
Fusion: TCGACAMKK2 12q24.31 NR2C1 12q22 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR2C1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR2C1
dbVarNR2C1
ClinVarNR2C1
1000_GenomesNR2C1 
Exome Variant ServerNR2C1
ExAC (Exome Aggregation Consortium)NR2C1 (select the gene name)
Genetic variants : HAPMAP7181
Genomic Variants (DGV)NR2C1 [DGVbeta]
DECIPHER (Syndromes)12:95424185-95467404  ENSG00000120798
CONAN: Copy Number AnalysisNR2C1 
Mutations
ICGC Data PortalNR2C1 
TCGA Data PortalNR2C1 
Broad Tumor PortalNR2C1
OASIS PortalNR2C1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR2C1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNR2C1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NR2C1
DgiDB (Drug Gene Interaction Database)NR2C1
DoCM (Curated mutations)NR2C1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR2C1 (select a term)
intoGenNR2C1
Cancer3DNR2C1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601529   
Orphanet
MedgenNR2C1
Genetic Testing Registry NR2C1
NextProtP13056 [Medical]
TSGene7181
GENETestsNR2C1
Huge Navigator NR2C1 [HugePedia]
snp3D : Map Gene to Disease7181
BioCentury BCIQNR2C1
ClinGenNR2C1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7181
Chemical/Pharm GKB GenePA31754
Clinical trialNR2C1
Miscellaneous
canSAR (ICR)NR2C1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR2C1
EVEXNR2C1
GoPubMedNR2C1
iHOPNR2C1
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 : Tue Mar 14 13:19:19 CET 2017

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