Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NR1D2 (nuclear receptor subfamily 1 group D member 2)

Identity

Alias_namesnuclear receptor subfamily 1
Alias_symbol (synonym)BD73
RVR
EAR-1r
HZF2
Hs.37288
Other aliasEAR-1R
HGNC (Hugo) NR1D2
LocusID (NCBI) 9975
Atlas_Id 46810
Location 3p24.2  [Link to chromosome band 3p24]
Location_base_pair Starts at 23946121 and ends at 23980618 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)
CMTM8 (3p22.3) / NR1D2 (3p24.2)NR1D2 (3p24.2) / AC106722.1 ()NR1D2 (3p24.2) / MDC1 (6p21.33)
CMTM8 3p22.3 / NR1D2 3p24.2NR1D2 3p24.2 AC106722.1

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

 


External links

Nomenclature
HGNC (Hugo)NR1D2   7963
Cards
Entrez_Gene (NCBI)NR1D2  9975  nuclear receptor subfamily 1 group D member 2
AliasesBD73; EAR-1R; RVR
GeneCards (Weizmann)NR1D2
Ensembl hg19 (Hinxton)ENSG00000174738 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174738 [Gene_View]  chr3:23946121-23980618 [Contig_View]  NR1D2 [Vega]
ICGC DataPortalENSG00000174738
TCGA cBioPortalNR1D2
AceView (NCBI)NR1D2
Genatlas (Paris)NR1D2
WikiGenes9975
SOURCE (Princeton)NR1D2
Genetics Home Reference (NIH)NR1D2
Genomic and cartography
GoldenPath hg38 (UCSC)NR1D2  -     chr3:23946121-23980618 +  3p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NR1D2  -     3p24.2   [Description]    (hg19-Feb_2009)
EnsemblNR1D2 - 3p24.2 [CytoView hg19]  NR1D2 - 3p24.2 [CytoView hg38]
Mapping of homologs : NCBINR1D2 [Mapview hg19]  NR1D2 [Mapview hg38]
OMIM602304   
Gene and transcription
Genbank (Entrez)AB209091 AB307693 AK293273 AK301925 AK313464
RefSeq transcript (Entrez)NM_001145425 NM_005126
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NR1D2
Cluster EST : UnigeneHs.37288 [ NCBI ]
CGAP (NCI)Hs.37288
Alternative Splicing GalleryENSG00000174738
Gene ExpressionNR1D2 [ NCBI-GEO ]   NR1D2 [ EBI - ARRAY_EXPRESS ]   NR1D2 [ SEEK ]   NR1D2 [ MEM ]
Gene Expression Viewer (FireBrowse)NR1D2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9975
GTEX Portal (Tissue expression)NR1D2
Human Protein AtlasENSG00000174738-NR1D2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14995   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14995  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14995
Splice isoforms : SwissVarQ14995
PhosPhoSitePlusQ14995
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)NR1D2
DMDM Disease mutations9975
Blocks (Seattle)NR1D2
PDB (SRS)2V0V    2V7C    3CQV    4N73   
PDB (PDBSum)2V0V    2V7C    3CQV    4N73   
PDB (IMB)2V0V    2V7C    3CQV    4N73   
PDB (RSDB)2V0V    2V7C    3CQV    4N73   
Structural Biology KnowledgeBase2V0V    2V7C    3CQV    4N73   
SCOP (Structural Classification of Proteins)2V0V    2V7C    3CQV    4N73   
CATH (Classification of proteins structures)2V0V    2V7C    3CQV    4N73   
SuperfamilyQ14995
Human Protein Atlas [tissue]ENSG00000174738-NR1D2 [tissue]
Peptide AtlasQ14995
HPRD03809
IPIIPI00788022   IPI00816040   IPI00923391   IPI00431747   
Protein Interaction databases
DIP (DOE-UCLA)Q14995
IntAct (EBI)Q14995
FunCoupENSG00000174738
BioGRIDNR1D2
STRING (EMBL)NR1D2
ZODIACNR1D2
Ontologies - Pathways
QuickGOQ14995
Ontology : AmiGOcore promoter sequence-specific DNA binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  zinc ion binding  regulation of lipid metabolic process  intracellular receptor signaling pathway  regulation of circadian rhythm  steroid hormone mediated signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  rhythmic process  regulation of inflammatory response  lipid homeostasis  regulation of energy homeostasis  regulation of skeletal muscle cell differentiation  
Ontology : EGO-EBIcore promoter sequence-specific DNA binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  zinc ion binding  regulation of lipid metabolic process  intracellular receptor signaling pathway  regulation of circadian rhythm  steroid hormone mediated signaling pathway  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  rhythmic process  regulation of inflammatory response  lipid homeostasis  regulation of energy homeostasis  regulation of skeletal muscle cell differentiation  
NDEx NetworkNR1D2
Atlas of Cancer Signalling NetworkNR1D2
Wikipedia pathwaysNR1D2
Orthology - Evolution
OrthoDB9975
GeneTree (enSembl)ENSG00000174738
Phylogenetic Trees/Animal Genes : TreeFamNR1D2
HOVERGENQ14995
HOGENOMQ14995
Homologs : HomoloGeneNR1D2
Homology/Alignments : Family Browser (UCSC)NR1D2
Gene fusions - Rearrangements
Fusion : MitelmanCMTM8/NR1D2 [3p22.3/3p24.2]  [t(3;3)(p22;p24)]  
Fusion: TCGA_MDACCCMTM8 3p22.3 NR1D2 3p24.2 BRCA
Fusion: TCGA_MDACCNR1D2 3p24.2 AC106722.1 LUAD
Tumor Fusion PortalNR1D2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR1D2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR1D2
dbVarNR1D2
ClinVarNR1D2
1000_GenomesNR1D2 
Exome Variant ServerNR1D2
ExAC (Exome Aggregation Consortium)ENSG00000174738
GNOMAD BrowserENSG00000174738
Genetic variants : HAPMAP9975
Genomic Variants (DGV)NR1D2 [DGVbeta]
DECIPHERNR1D2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNR1D2 
Mutations
ICGC Data PortalNR1D2 
TCGA Data PortalNR1D2 
Broad Tumor PortalNR1D2
OASIS PortalNR1D2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR1D2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNR1D2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NR1D2
DgiDB (Drug Gene Interaction Database)NR1D2
DoCM (Curated mutations)NR1D2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR1D2 (select a term)
intoGenNR1D2
Cancer3DNR1D2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602304   
Orphanet
DisGeNETNR1D2
MedgenNR1D2
Genetic Testing Registry NR1D2
NextProtQ14995 [Medical]
TSGene9975
GENETestsNR1D2
Target ValidationNR1D2
Huge Navigator NR1D2 [HugePedia]
snp3D : Map Gene to Disease9975
BioCentury BCIQNR1D2
ClinGenNR1D2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9975
Chemical/Pharm GKB GenePA31749
Clinical trialNR1D2
Miscellaneous
canSAR (ICR)NR1D2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR1D2
EVEXNR1D2
GoPubMedNR1D2
iHOPNR1D2
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 Nov 21 14:26:42 CET 2017

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