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NR2E3 Gene

protein-coding   GIFtS: 60

GC15P048933
nuclear receptor subfamily 2, group E, member 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
nuclear receptor subfamily 2, group E, member 31 2     RNR2 3
PNR1 2 3 5     ESCS2 5
RP371 2 5     photoreceptor-specific nuclear receptor2
rd71 2     MGC499762
Retina-specific nuclear receptor2 3     Nuclear receptor subfamily 2 group E member 33

External Ids:    HGNC: 79741   Entrez Gene: 100022   Ensembl: ENSG000000315447   UniProtKB: Q9Y5X43   

Export aliases for NR2E3 gene to outside databases

Previous GC identifers: GC15P067898 GC15P065200 GC15P069660 GC15P069818 GC15P069889 GC15P072102


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NR2E3:
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways.
Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of
proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and
ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects
in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different
isoforms have been identified. (provided by RefSeq)

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4
Function: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod
development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes,
including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression.
Represses M- and S-cone opsin expression

Gene Wiki entry for NR2E3 (Photoreceptor cell-specific nuclear receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR2E3 gene promoter:
         STAT1   STAT1alpha   CUTL1   STAT1beta   STAT5A   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for NR2E3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.32   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q24

NR2E3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR2E3 gene location

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P048933:  view genomic region     (about GC identifiers)

Start:
48,933,365 bp from pter
End:
48,941,065 bp from pter
Size:
7,701 bases
Orientation:
plus strand

1 alternative location:
Chr15+ 72,102,894-72,110,559     
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4 (See protein sequence)
Recommended Name: Photoreceptor-specific nuclear receptor  
Size: 410 amino acids; 44692 Da
Subunit: Interacts with PIAS3; the interaction sumoylates NR2E3 and promotes repression of cone-specific gene
transcription and activation of rod-specific genes (By similarity). Component of a complex that includes NR2E3, PIAS3,
NRL, CRX and/or NR1D1. Binds NR1D1. Binds direcly in the complex with CRX, PIAS3 and NR1D1 (By similarity). Interacts
(via the DNA-binding domain) with CRX (via its DNA binding domain); the interaction represses S- and M-cone opsin
expression
Subcellular location: Nucleus
Secondary accessions: Q9UHM4
Alternative splicing: 2 isoforms:  Q9Y5X4-1   Q9Y5X4-2   

Explore the universe of human proteins at neXtProt for NR2E3: NX_Q9Y5X4 

Post-translational modifications:

  • Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene
  • expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_055064.1  NP_057430.1  


    ENSEMBL proteins: 
    ENSP00000381820 ENSP00000317199 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: NR2E3
    OriGene Protein Over-expression Lysate (see all 2): NR2E3
    GenScript Custom Purified and Recombinant Proteins Services for NR2E3 
    Novus Biologicals Protein for NR2E3
    Novus Biologicals Lysates for NR2E3
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    3 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm TAS--
    GO:0005667 transcription factor complex IEA--
    About this table

    NR2E3 for ontologies           About GeneDecksing



    Antibodies for NR2E3: 
    Millipore Mono- and Polyclonal Antibodies for the study of NR2E3
    Sigma-Aldrich Antibodies for NR2E3
    R&D Systems Antibodies for NR2E3 (PNR/NR2E3)
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for NR2E3 
    Novus Biologicals Antibodies for NR2E3
    Browse antibodies at Epitomics

    Assays for NR2E3: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NR2E3 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NR2E3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001723 Str_hrmn_rcpt
     IPR013088 Znf_NHR/GATA
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry Q9Y5X4

    ProtoNet protein and cluster: Q9Y5X4

    2 Blocks protein families:
    IPB000003 Retinoic acid receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4
    Similarity: Belongs to the nuclear hormone receptor family. NR2 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4
    Function: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod
    development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes,
    including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression.
    Represses M- and S-cone opsin expression

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for NR2E3
    Sigma-Aldrich shRNA Panels and shRNA for NR2E3
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): NR2E3
    OriGene shRNA RFP (see all 2): NR2E3
    OriGene basic RS shRNA (see all 2): NR2E3
    OriGene siRNA (see all 2): NR2E3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NR2E3 
    miRNA:Sigma-Aldrich microRNA Mimics for NR2E3
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NR2E3 
    Search SABiosciences for Assays for microRNAs that regulate NR2E3

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NR2E3
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NR2E3
    OriGene untagged cDNA clones in CMV expression vector (see all 2): NR2E3
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): NR2E3 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for NR2E3 

    Genatlas biochemistry entry for NR2E3:
    nuclear receptor superfamily 2,group E,member 3,homolog to TLX receptor,orphan receptor family

    5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 sequence-specific DNA binding transcription factor activity IEA--
    GO:0003707 steroid hormone receptor activity IEA--
    GO:0004879 ligand-dependent nuclear receptor activity TAS10220376
    GO:0005515 protein binding IEA--
    GO:0008270 zinc ion binding IEA--
    About this table

    NR2E3 for ontologies           About GeneDecksing

    Animal Models: 2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nr2e3):

    nervous systemvision/eye

    NR2E3 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Pathway-Focused PCR Array including NR2E3: PAHS-056A 

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR2E3

    5/40 Interacting proteins for NR2E3 (Q9Y5X42 ENSP000003171993) via UniProtKB, MINT, and/or STRING (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCOR1O753762, ENSP000002687123MINT-4303731 MINT-4303443 STRING: ENSP00000268712
    DHX30Q7L2E32MINT-4302975 MINT-4303674 MINT-4302998 MINT-4302946 MINT-4303427
    CDK9P507502MINT-4303827 MINT-4303537 MINT-4303916 MINT-4303806
    MIR2861P507502
    HDAC1Q135472MINT-4303486 MINT-4303763
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006366 transcription from RNA polymerase II promoter TAS10220376
    GO:0007165 signal transduction TAS10220376
    GO:0007601 visual perception IEA--
    About this table

    NR2E3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    NR2E3 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NR2E3
    10/27 Novoseek chemical compound relationships for NR2E3 gene (see all 27)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-aminopyridine-2-carboxaldehyde thiosemicarbazone 89.4 5 15096505 (1), 19929413 (1), 20198185 (1), 17324380 (1)
    2'-azido-2'-deoxyuridine 5'-diphosphate 86.9 1 15276078 (1)
    dcdp 84.3 1 12939135 (1)
    parathion 70.9 7 12221087 (2), 17188250 (1), 19291372 (1), 11904430 (1) (see all 6)
    dgtp 70 1 15096505 (1)
    endor 62.6 2 10341127 (1), 15721607 (1)
    deoxycytidine 56.5 5 9773810 (2), 17324380 (1), 17636467 (1)
    gemcitabine 52 17 17324380 (4), 20436341 (2), 17636467 (2), 19899807 (1) (see all 5)
    ribose 43.6 1 11796141 (1)
    thymidylate 42.9 7 11527696 (2), 17192711 (2), 12552952 (1), 18230555 (1) (see all 5)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for NR2E3
    Sigma-Aldrich shRNA Panels and shRNA for NR2E3
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): NR2E3
    OriGene shRNA RFP (see all 2): NR2E3
    OriGene basic RS shRNA (see all 2): NR2E3
    OriGene siRNA (see all 2): NR2E3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NR2E3 
    miRNA: Sigma-Aldrich microRNA Mimics for NR2E3
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NR2E3 
    Search SABiosciences for Assays for microRNAs that regulate NR2E3
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NR2E3
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NR2E3
    OriGene untagged cDNA clones in CMV expression vector (see all 2): NR2E3
    Browse 3'-UTR reporter clones for miRNA target validation 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): NR2E3 
    Primers: OriGene genome-wide validated SYBR primer pairs: NR2E3
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for NR2E3: PPH05881A

    REFSEQ mRNAs for NR2E3 gene (2 alternative transcripts): 

    NM_014249.2  NM_016346.2  

    Additional cDNA sequence: 

    AB307710.1 AF121129.1 AF148128.1 BC041421.1 BX538301.1 

    5 DOTS entries:

    DT.97770975  DT.97836583  DT.92024699  DT.121075823  DT.97801085 

    24/30 AceView cDNA sequences (see all 30):

    BU729980 NM_016346 BX490985 BM715243 BX490986 NM_014249 AI591043 BM704071 
    BQ639434 BM704483 AW080977 AF121129 AF148128 BM709352 BX491352 BX954811 
    AL711747 BU732726 AI444836 BX538301 BC041421 AL711722 BE784537 BU736653 

    highest scoring ESTs for NR2E3:

    AF121129 BM704071 BM715243 BU732726 BC041421 AF148128 AI591043 AL711722 AL711747 BM685237 

    Unigene Cluster for NR2E3:

    Nuclear receptor subfamily 2, group E, member 3
    Hs.187354  [show with all ESTs]
    Unigene Representative Sequence: BX538301


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398840(uc002ath.1) ENST00000326995(uc002ati.2)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    NR2E3 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching NR2E3 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    31667_r_at2, 3 U95-A 1 0.44 1.00 1.00 1.00 W27698 0.60 1.00 0.82 1
    31366_at2, 3 U95-A 1 0.31 1.00 0.28 0.29 W27871 0.40 1.00 0.76 1
    208385_at2, 3 U133-A 1 0.64 1.00 -- -- NM_016346 0.60 1.00 0.82 1
    208388_at2, 3 U133-A 1 0.55 1.00 -- -- NM_014249 0.60 1.00 0.82 1
    208385_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    208388_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
    About this table

    NR2E3 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    NR2E3 gene expression
    NR2E3 gene electronic northern expression
    NR2E3 gene sage expression
    About these images

    CGAP SAGE TAG: GGAGCCCTCT

    SOURCE GeneReport for Unigene cluster: Hs.187354

    Expression variation in blood from EXPOLDB for NR2E3

    UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4
    Tissue specificity: Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the
    nuclei of cone and rod photoreceptors reside

    Primers: OriGene genome-wide validated SYBR primer pairs: NR2E3
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for NR2E3: PPH05881A
        SABiosciences Expression via Pathway-Focused PCR Array including NR2E3: PAHS-056A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for NR2E3 gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NR2E31   -- nuclear receptor subfamily 2, group E, member 3 89.3(n)
    92.59(a)
    487629  XM_544754.2  XP_544754.2 
    chimpanzee
    (Pan troglodytes)
    NR2E31   -- nuclear receptor subfamily 2, group E, member 3 99.34(n)
    98.76(a)
    748665  XM_001175025.1  XP_001175025.1 
    cow
    (Bos taurus)
    NR2E31   -- nuclear receptor subfamily 2, group E, member 3 89.32(n)
    90.95(a)
    281944  XM_587567.3  XP_587567.2 
    mouse
    (Mus musculus)
    Nr2e31 , 5 9 (32.35 cM)5
    nuclear receptor subfamily 2, group E, member 31, 5 84.43(n)1
    90.61(a)1
    239581  NM_013708.41  NP_038736.11 
     AF1481295  AF2040535  (see all 14)
    chicken
    (Gallus gallus)
    NR2E31   -- nuclear receptor subfamily 2, group E, member 3 73.98(n)
    74.15(a)
    395289  NM_204594.1  NP_989925.1 
    About this table        Species with no ortholog for NR2E3

    ENSEMBL Gene Tree for NR2E3 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for NR2E3 gene
    NR2F12  NR2C12  NR2E12  NR2F62  NR2F22  NR2C22  

    NR2E3 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/104 NCBI SNPs in NR2E3 are shown (see all 104)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs7530741,2
    C,A,72101087(-) CCACCG/AGGCTG 2 -- ng514Minor allele frequency- A:0.05MN NA 260
    rs9005441,2
    --72101881(+) GCGGAC/GGTGTG 2 -- ng510--------
    rs9005451,2
    --72101882(+) CGGACC/GTGTGA 2 -- ng510--------
    rs9005461,2
    --72104193(+) CAGGCA/G/TGGGAT 6 A syn1 ref1 ese30--------
    rs9005471,2
    --72104216(+) TGAGGC/TGGGGG 2 -- int10--------
    rs18050201,2
    C,F,72104364(+) CACTGA/GGTCCC 4 E G ref1 mis1 ese37Minor allele frequency- G:0.23EA NS NA 2058
    rs18050211,2
    C,72104433(+) ACCCAC/TGTCTG 4 T M mis1 ref1 ese30--------
    rs18050221,2
    C,F72104450(+) GAGCCC/TTGGGC 4 L ref1 syn11Minor allele frequency- T:0.03NA 74
    rs18050231,2
    --72104798(+) TGGCCA/GTCAAG 4 I V mis1 ref10--------
    rs18050241,2
    --72105863(+) CTCACA/GCTGGC 4 T syn1 ref10--------
    About this table

    HapMap Linkage Disequilibrium images for NR2E3 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NR2E3: --

    QIAGEN SeqTarget long-range PCR primers for resequencing NR2E3 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NR2E3 for disorders           About GeneDecksing

    OMIM: 604485   disorders: 268100  611131  

    UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4

  • Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS) [MIM:268100]. ESCS is an autosomal recessive
  • retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what
    is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also
    associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and
    M (middle, green)-cone vision, and retinal degeneration
  • Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37) [MIM:611131]. RP leads to degeneration
  • of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field.
    As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP37
    inheritance is autosomal dominant

    10/15 Novoseek disease relationships for NR2E3 gene (see all 15)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enhanced s-cone syndrome 96.4 15 17601449 (2), 15453866 (2), 17438525 (2), 19933183 (1) (see all 9)
    night blindness 66.8 1 19139342 (1)
    retinal degeneration 65.9 4 19006237 (1), 11773633 (1), 10805811 (1)
    retinitis pigmentosa 58.7 5 19933183 (2), 19006237 (1), 11071390 (1)
    achromatopsia 57.9 1 12187427 (1)
    retinopathy 38.7 3 18294254 (2), 11725181 (1)
    blindness 37.1 1 15229190 (1)
    retinoblastoma 23.6 2 17277753 (1), 10220376 (1)
    colon carcinoma 5.81 1 12552952 (1)
    nsclc 3.05 2 17324380 (1)
    About this table

    Locus Specific Mutation Databases (LSDB): NR2E3
    Human Gene Mutation Database (HGMD): NR2E3
    Human Genome Epidemiology (HuGE) Navigator: NR2E3 (4 documents)

    Export disorders and mutations for NR2E3 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/137 PubMed articles for NR2E3 gene, integrated from 7 sources (see all 137):
    (articles sorted by number of sources associating them with NR2E3)
    1. Identification of a photoreceptor cell-specific nuclear receptor. (PubMed id 10220376)1, 2, 3, 7 Kobayashi M.... Umesono K. (1999)
    2. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. (PubMed id 15689355)1, 2, 7 Peng G.H....Chen S. (2005)
    3. Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells. (PubMed id 10611353)1, 2, 7 Chen F.... Austin C.P. (1999)
    4. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. (PubMed id 19006237)1, 2, 7 Escher P.... Schorderet D.F. (2009)
    5. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (PubMed id 16225923)1, 2, 7 Hayashi T....Kitahara K. (2005)
    6. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (PubMed id 10655056)1, 2, 7 Haider N.B.... Sheffield V.C. (2000)
    7. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. (PubMed id 18294254)1, 2, 7 Bernal S....Baiget M. (2008)
    8. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (PubMed id 15459973)1, 2, 7 Wright A.F....Swaroop A. (2004)
    9. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. (PubMed id 11071390)1, 2, 7 Gerber S.... Kaplan J. (2000)
    10. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. (PubMed id 17564971)1, 2 Coppieters F.... De Baere E. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10002 HGNC: 7974 AceView: NR2E3 Ensembl:ENSG00000031544 euGenes: HUgn10002
    ECgene: NR2E3 H-InvDB: NR2E3

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Mutations of the NR2E3 genehttp://www.retina-international.com/sci-news/nr2e3.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
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    Patent Information for NR2E3 gene:
    Search GeneIP for patents involving NR2E3

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