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NR2E3 (nuclear receptor subfamily 2, group E, member 3)

Identity

Other namesESCS
PNR
RNR
RP37
rd7
HGNC (Hugo) NR2E3
LocusID (NCBI) 10002
Atlas_Id 52606
Location 15q23
Location_base_pair Starts at 72102888 and ends at 72110597 bp from pter ( according to hg19-Feb_2009)

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)NR2E3   7974
Cards
Entrez_Gene (NCBI)NR2E3  10002  nuclear receptor subfamily 2, group E, member 3
GeneCards (Weizmann)NR2E3
Ensembl hg19 (Hinxton)ENSG00000278570 [Gene_View]  chr15:72102888-72110597 [Contig_View]  NR2E3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000278570 [Gene_View]  chr15:72102888-72110597 [Contig_View]  NR2E3 [Vega]
ICGC DataPortalENSG00000278570
TCGA cBioPortalNR2E3
AceView (NCBI)NR2E3
Genatlas (Paris)NR2E3
WikiGenes10002
SOURCE (Princeton)NR2E3
Genomic and cartography
GoldenPath hg19 (UCSC)NR2E3  -     chr15:72102888-72110597 +  15q23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NR2E3  -     15q23   [Description]    (hg38-Dec_2013)
EnsemblNR2E3 - 15q23 [CytoView hg19]  NR2E3 - 15q23 [CytoView hg38]
Mapping of homologs : NCBINR2E3 [Mapview hg19]  NR2E3 [Mapview hg38]
OMIM268100   604485   611131   
Gene and transcription
Genbank (Entrez)AB307710 AF121129 AF148128 AL711747 AW080977
RefSeq transcript (Entrez)NM_001281446 NM_014249 NM_016346
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_009113 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)NR2E3
Cluster EST : UnigeneHs.636007 [ NCBI ]
CGAP (NCI)Hs.636007
Alternative Splicing : Fast-db (Paris)GSHG0009983
Alternative Splicing GalleryENSG00000278570
Gene ExpressionNR2E3 [ NCBI-GEO ]     NR2E3 [ SEEK ]   NR2E3 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5X4 (Uniprot)
NextProtQ9Y5X4  [Medical]  [Publications]
With graphics : InterProQ9Y5X4
Splice isoforms : SwissVarQ9Y5X4 (Swissvar)
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Retinoid-X_rcpt/HNF4    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Related proteins : CluSTrQ9Y5X4
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)  
DMDM Disease mutations10002
Blocks (Seattle)Q9Y5X4
PDB (SRS)4LOG   
PDB (PDBSum)4LOG   
PDB (IMB)4LOG   
PDB (RSDB)4LOG   
Human Protein AtlasENSG00000278570
Peptide AtlasQ9Y5X4
HPRD05132
IPIIPI00001888   IPI00215922   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5X4
IntAct (EBI)Q9Y5X4
FunCoupENSG00000278570
BioGRIDNR2E3
IntegromeDBNR2E3
STRING (EMBL)NR2E3
Ontologies - Pathways
QuickGOQ9Y5X4
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  steroid hormone receptor activity  ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  visual perception  phototransduction  zinc ion binding  negative regulation of cell proliferation  gene expression  intracellular receptor signaling pathway  eye photoreceptor cell development  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of rhodopsin gene expression  positive regulation of transcription from RNA polymerase II promoter  retina development in camera-type eye  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  steroid hormone receptor activity  ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  signal transduction  visual perception  phototransduction  zinc ion binding  negative regulation of cell proliferation  gene expression  intracellular receptor signaling pathway  eye photoreceptor cell development  steroid hormone mediated signaling pathway  sequence-specific DNA binding  positive regulation of rhodopsin gene expression  positive regulation of transcription from RNA polymerase II promoter  retina development in camera-type eye  
Protein Interaction DatabaseNR2E3
DoCM (Curated mutations)NR2E3
Wikipedia pathwaysNR2E3
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerNR2E3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR2E3
dbVarNR2E3
ClinVarNR2E3
1000_GenomesNR2E3 
Exome Variant ServerNR2E3
SNP (GeneSNP Utah)NR2E3
SNP : HGBaseNR2E3
Genetic variants : HAPMAPNR2E3
Genomic Variants (DGV)NR2E3 [DGVbeta]
Mutations
ICGC Data PortalNR2E3 
TCGA Data PortalNR2E3 
Tumor PortalNR2E3
Somatic Mutations in Cancer : COSMICNR2E3 
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:72102888-72110597
CONAN: Copy Number AnalysisNR2E3 
Mutations and Diseases : HGMDNR2E3
OMIM268100    604485    611131   
MedgenNR2E3
NextProtQ9Y5X4 [Medical]
GENETestsNR2E3
Disease Genetic AssociationNR2E3
Huge Navigator NR2E3 [HugePedia]  NR2E3 [HugeCancerGEM]
snp3D : Map Gene to Disease10002
DGIdb (Drug Gene Interaction db)NR2E3
BioCentury BCIQNR2E3
General knowledge
Homologs : HomoloGeneNR2E3
Homology/Alignments : Family Browser (UCSC)NR2E3
Phylogenetic Trees/Animal Genes : TreeFamNR2E3
Chemical/Protein Interactions : CTD10002
Chemical/Pharm GKB GenePA31757
Clinical trialNR2E3
Cancer Resource (Charite)ENSG00000278570
Other databases
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
CoreMineNR2E3
GoPubMedNR2E3
iHOPNR2E3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 12:00:26 CEST 2015

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