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NR2E3 Gene

protein-coding   GIFtS: 63
GCID: GC15P072084

Nuclear Receptor Subfamily 2, Group E, Member 3

  See NR2E3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Receptor Subfamily 2, Group E, Member 31 2     RP372 5
PNR2 3 5     Photoreceptor-Specific Nuclear Receptor2
Retina-Specific Nuclear Receptor2 3     rd72
RNR2 3     Nuclear Receptor Subfamily 2 Group E Member 33
ESCS2 5     

External Ids:    HGNC: 79741   Entrez Gene: 100022   Ensembl: ENSG000000315447   OMIM: 6044855   UniProtKB: Q9Y5X43   

Export aliases for NR2E3 gene to outside databases

Previous GC identifers: GC15P067898 GC15P065200 GC15P069660 GC15P069818 GC15P069889 GC15P072102 GC15P048933


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NR2E3 Gene:
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, Jul 2008)

GeneCards Summary for NR2E3 Gene:
NR2E3 (nuclear receptor subfamily 2, group E, member 3) is a protein-coding gene. Diseases associated with NR2E3 include nr2e3-related retinitis pigmentosa, and esotropia. GO annotations related to this gene include ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity and sequence-specific DNA binding.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the NR2E3 gene promoter:
         STAT1   STAT1beta   CUTL1   STAT5A   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NR2E3 promoter sequence
   Search Chromatin IP Primers for NR2E3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NR2E3


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

Entrez Gene cytogenetic band: 15q23   Ensembl cytogenetic band:  15q23   HGNC cytogenetic band: 15q23

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 information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P072084:  view genomic region     (about GC identifiers)

Start:
72,084,977 bp from pter      End:
72,110,600 bp from pter
Size:
25,624 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: Q9UHM4
Alternative splicing: 2 isoforms:  Q9Y5X4-1   Q9Y5X4-2   

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

Explore proteomics data for NR2E3 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR2E3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055064.1  NP_057430.1  
    Reactome Protein details: Q9Y5X4

    NR2E3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for NR2E3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: PNR
    2E. Tailless-like receptors

    Selected InterPro protein domains (see all 6):
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR000003 Retinoid-X_rcpt/HNF4

    Graphical View of Domain Structure for InterPro Entry Q9Y5X4

    ProtoNet protein and cluster: Q9Y5X4

    2 Blocks protein domains:
    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


    Find genes that share domains with NR2E3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS10220376
    GO:0005515protein binding IPI17255935
    GO:0008270zinc ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with NR2E3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NR2E3:
     Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nr2e3):
     cellular  nervous system  vision/eye 

    Find genes that share phenotypes with NR2E3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nr2e3tm1Dgen for NR2E3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR2E3
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    SwitchGear 3'UTR luciferase reporter plasmidNR2E3 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NR2E3_HUMAN, Q9Y5X4: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS10220376
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with NR2E3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NR2E3 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67


    Find genes that share SuperPaths with NR2E3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NR2E3
        Nuclear Receptor transcription pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR2E3: 
              Neurogenesis in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR2E3

    Selected Interacting proteins for NR2E3 (Q9Y5X41, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DHX30Q7L2E31, 2, 3EBI-7216962,EBI-1211456 MINT-4302975 MINT-4303674 MINT-4302998 MINT-4302946 MINT-4303427 I2D: score=3 
    CDK9P507501, 2, 3EBI-7216962,EBI-1383449 MINT-4303827 MINT-4303537 MINT-4303916 MINT-4303806 I2D: score=3 
    HDAC1Q135471, 2, 3EBI-7216962,EBI-301834 MINT-4303486 MINT-4303763 I2D: score=3 
    HDAC3O153791, 2, 3EBI-7216962,EBI-607682 MINT-4303499 MINT-4303774 I2D: score=3 
    MYBBP1AQ9BQG01, 2, 3EBI-7216962,EBI-676973 MINT-4303589 MINT-4303550 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS10220376
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007165signal transduction TAS10220376
    GO:0007601visual perception IEA--
    GO:0007602phototransduction TAS10220376

    Find genes that share ontologies with NR2E3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NR2E3

    Selected Novoseek inferred chemical compound relationships for NR2E3 gene (see all 27)    About this table
    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)



    Find genes that share compounds with NR2E3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NR2E3 gene (3 alternative transcripts): 
    NM_014249.3  NM_016346.3  NM_001281446.1  

    Unigene Cluster for NR2E3:

    Nuclear receptor subfamily 2, group E, member 3
    Hs.187354  [show with all ESTs]
    Unigene Representative Sequence: BX538301
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561604(processed_transcript) ENST00000567496(processed_transcript) ENST00000562839(processed_transcript) ENST00000562925(processed_transcript) ENST00000563709(processed_transcript)
    ENST00000398840(processed_transcript) ENST00000326995(processed_transcript)
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    SwitchGear 3'UTR luciferase reporter plasmidNR2E3 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NR2E3
      QuantiFast Probe-based Assays in human, mouse, rat NR2E3

    Additional mRNA sequence: 

    AB307710.1 AF121129.1 AF148128.1 BC041421.1 BX538301.1 HQ692847.1 

    5 DOTS entries:

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

    Selected AceView cDNA sequences (see all 30):

    NM_016346 BX490985 BU729980 BM704071 BX490986 NM_014249 AI591043 BM715243 
    AF148128 BX954811 BM704483 BC041421 AL711722 AI444836 AL711747 BX491352 
    BX538301 AW080977 BQ639434 BM709352 BU732726 AF121129 BX490978 BX490992 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NR2E3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCCCTCT
    NR2E3 Expression
    About this image


    NR2E3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Rod Precursor Cells Outer Nuclear Layer
             Retina
     
     Neurons
             Rod Precursor Cells Outer Nuclear Layer
    NR2E3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR2E3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187354

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NR2E3: 
              Neurogenesis in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for NR2E3
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    QuantiFast Probe-based Assays in human, mouse, rat NR2E3
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NR2E3 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr2e31 , 5 nuclear receptor subfamily 2, group E, member 31, 5 84.01(n)1
    90.1(a)1
      9 (32.35 cM)5
    239581  NM_013708.41  NP_038736.11 
     599427715 
    chicken
    (Gallus gallus)
    Aves NR2E31 nuclear receptor subfamily 2, group E, member 3 75.36(n)
    75.54(a)
      395289  NM_204594.1  NP_989925.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nr2e31 nuclear receptor subfamily 2, group E, member 3 68.57(n)
    72.48(a)
      100036597  NM_001097164.1  NP_001090633.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr2e31 nuclear receptor subfamily 2, group E, member 3 66.11(n)
    72.65(a)
      492496  NM_001007368.1  NP_001007369.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsf3
    Hr511
    male courtship behavior transcription
    factor3
    Hormone receptor 511
    50(a)
    (best of 2)3
    63.73(n)1
    63.84(a)1
      367021  NM_137188.21  NP_611032.21 


    ENSEMBL Gene Tree for NR2E3 (if available)
    TreeFam Gene Tree for NR2E3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NR2E3 gene
    Selected SIMAP similar genes for NR2E3 using alignment to 4 protein entries:     NR2E3_HUMAN (see all proteins) (see all similar genes):
    PNR    ESR1    NR2E1    NR2F6    NR2F2    NR2B3
    NR2F1    RXRG    RXRB    NR2B1    RXRA    HNF4A
    NR2A1    ERRgamma    NR2A2    NR2A3    NR3B3    HNF4G

    Find genes that share paralogs with NR2E3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NR2E3 (see all 315)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378731,2,,4
    CEnhanced S cone syndrome (ESCS)4 pathogenic152157836(+) GTTCCA/GGGCAT 4 Q R mis1 ese30--------
    VAR_0208424
    Enhanced S cone syndrome (ESCS)4--see VAR_0208422 L P mis40--------
    VAR_0208434
    Enhanced S cone syndrome (ESCS)4--see VAR_0208432 L V mis40--------
    VAR_0100264
    Enhanced S cone syndrome (ESCS)4--see VAR_0100262 R W mis40--------
    VAR_0100354
    Enhanced S cone syndrome (ESCS)4--see VAR_0100352 R P mis40--------
    VAR_0092664
    Enhanced S cone syndrome (ESCS)4--see VAR_0092662 R Q mis40--------
    VAR_0208414
    Enhanced S cone syndrome (ESCS)4--see VAR_0208412 L P mis40--------
    VAR_0100274
    Enhanced S cone syndrome (ESCS)4--see VAR_0100272 E K mis40--------
    VAR_0208404
    Enhanced S cone syndrome (ESCS)4--see VAR_0208402 A E mis40--------
    VAR_0370264
    Retinitis pigmentosa 37 (RP37)4--see VAR_0370262 G R mis40--------

    HapMap Linkage Disequilibrium report for NR2E3 (72084977 - 72110600 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NR2E3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv827383CNV Loss20364138
    nsv904334CNV Gain21882294

    Human Gene Mutation Database (HGMD): NR2E3
    Locus Specific Mutation Databases (LSDB): NR2E3

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604485   
    OMIM disorders: 268100  611131  
    UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4
  • Enhanced S cone syndrome (ESCS) [MIM:268100]: 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Retinitis pigmentosa 37 (RP37) [MIM:611131]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for NR2E3:    
    About MalaCards
    nr2e3-related retinitis pigmentosa    esotropia    retinitis pigmentosa 37    goldmann-favre syndrome
    accommodative esotropia    achromatopsia    leber congenital amaurosis

    4 diseases from the University of Copenhagen DISEASES database for NR2E3:
    Retinal degeneration     Night blindness     Accommodative esotropia     Achromatopsia

    Find genes that share disorders with NR2E3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NR2E3 gene (see all 15)    About this table

    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)

    Genetic Association Database (GAD): NR2E3
    Human Genome Epidemiology (HuGE) Navigator: NR2E3 (4 documents)

    Export disorders for NR2E3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NR2E3 gene, integrated from 10 sources (see all 151):
    (articles sorted by number of sources associating them with NR2E3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a photoreceptor cell-specific nuclear receptor. (PubMed id 10220376)1, 2, 3, 9 Kobayashi M.... Umesono K. (Proc. Natl. Acad. Sci. U.S.A. 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, 9 Peng G.H.... Chen S. (Hum. Mol. Genet. 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, 9 Chen F.... Austin C.P. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    4. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. (PubMed id 19933183)1, 4, 9 Yang Y....Pang C.P. (amp 2010)
    5. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. (PubMed id 19006237)1, 2, 9 Escher P.... Schorderet D.F. (Hum. Mutat. 2009)
    6. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (PubMed id 16225923)1, 2, 9 Hayashi T....Kitahara K. (Ophthalmology 2005)
    7. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (PubMed id 10655056)1, 2, 9 Haider N.B.... Sheffield V.C. (Nat. Genet. 2000)
    8. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. (PubMed id 18294254)1, 2, 9 Bernal S.... Baiget M. (Clin. Genet. 2008)
    9. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (PubMed id 15459973)1, 2, 9 Wright A.F....Swaroop A. (Hum. Mutat. 2004)
    10. 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, 9 Gerber S.... Kaplan J. (Hum. Genet. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10002 HGNC: 7974 AceView: NR2E3 Ensembl:ENSG00000031544 euGenes: HUgn10002
    ECgene: NR2E3 H-InvDB: NR2E3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NR2E3 Pharmacogenomics, SNPs, Pathways
    Mutations of the NR2E3 genehttp://www.retina-international.org/files/sci-news/nr2e3mut.htm

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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