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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NR2E1 Gene

protein-coding   GIFtS: 62
GCID: GC06P108487

Nuclear Receptor Subfamily 2, Group E, Member 1


(Previous symbol: TLX)
  See 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)
About This Section

Aliases
Nuclear Receptor Subfamily 2, Group E, Member 11 2     XTLL2
TLX1 2 3 5     Nuclear Receptor Subfamily 2 Group E Member 12
Nuclear Receptor TLX2 3     Tailes-Related Receptor2
Protein Tailless Homolog2 3     Tailless Homolog2
hTll2 3     Tll3
TLL2     

External Ids:    HGNC: 79731   Entrez Gene: 71012   Ensembl: ENSG000001123337   OMIM: 6038495   UniProtKB: Q9Y4663   

Export aliases for NR2E1 gene to outside databases

Previous GC identifers: GC06P108322 GC06P108510 GC06P108532 GC06P108593 GC06P106055


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

GeneCards Summary for NR2E1 Gene: 
NR2E1 (nuclear receptor subfamily 2, group E, member 1) is a protein-coding gene. Diseases associated with NR2E1 include autism spectrum disorder, and microcephaly, and among its related super-pathways are Nuclear Receptors and Gene Expression. GO annotations related to this gene include histone deacetylase binding and sequence-specific DNA binding. An important paralog of this gene is NR5A2.

UniProtKB/Swiss-Prot: NR2E1_HUMAN, Q9Y466
Function: Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended
core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining
receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the
regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D
expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be
involved in retinoic acic receptor (RAR) regulation in retinal cells

Gene Wiki entry for NR2E1 (TLX) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR2E1 gene promoter:
         ER-alpha   E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   E2F   E2F-1   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR2E1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR2E1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR2E1


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

NR2E1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR2E1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P108487:  view genomic region     (about GC identifiers)

Start:
108,487,215 bp from pter      End:
108,510,013 bp from pter
Size:
22,799 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NR2E1_HUMAN, Q9Y466 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 2 group E member 1  
Size: 385 amino acids; 42589 Da
Subunit: Monomer (By similarity). Interacts with ATN1; the interaction represses the transcription (By similarity)
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for NR2E1: NX_Q9Y466

Explore proteomics data for NR2E1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y466

  • NR2E1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NR2E1 Protein Expression
    REFSEQ proteins: NP_003260.1  
    ENSEMBL proteins: 
     ENSP00000357982   ENSP00000357979   ENSP00000416908  
    Reactome Protein details: Q9Y466
    Human Recombinant Protein Products for NR2E1: 
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    Novus Biologicals NR2E1 Proteins
    Novus Biologicals NR2E1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NR2E1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    NR2E1 for ontologies           About GeneDecksing



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

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

    5 InterPro protein domains:
     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 Q9Y466

    ProtoNet protein and cluster: Q9Y466

    1 Blocks protein domain: IPB001723 Steroid hormone receptor signature

    UniProtKB/Swiss-Prot: NR2E1_HUMAN, Q9Y466
    Similarity: Belongs to the nuclear hormone receptor family. NR2 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    NR2E1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR2E1_HUMAN, Q9Y466
    Function: Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended
    core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining
    receptor specificity (By similarity). May be required to pattern anterior brain differentiation. Involved in the
    regulation of retinal development and essential for vision. During retinogenesis, regulates PTEN-Cyclin D
    expression via binding to the promoter region of PTEN and suppressing its activity (By similarity). May be
    involved in retinoic acic receptor (RAR) regulation in retinal cells

         Genatlas biochemistry entry for NR2E1:
    nuclear receptor subfamily 2,group E,member 1,Drosophila tailless homolog,predominantly expressed in the
    developing fore/midbrain neuroepithelium,retina and nasal epithelium,brain,steroid nuclear receptor superfamily
    (see TSG6F)

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
         
    NR2E1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NR2E1:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with cisplati 

         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nr2e1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  growth/size 
     nervous system  reproductive system  vision/eye 

    NR2E1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NR2E1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NR2E1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NR2E1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NR2E1 

    miRNA
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    miRTarBase miRNAs that target NR2E1:
    hsa-let-7b (MIRT004618), hsa-mir-9 (MIRT004982)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR2E1
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate NR2E1 (see all 31):
    hsa-miR-3910 hsa-miR-4291 hsa-miR-302d hsa-miR-520e hsa-miR-19b-2* hsa-miR-16-2* hsa-miR-548k hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidNR2E1 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of NR2E1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NR2E1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NR2E1
        Nuclear Receptors

    3        Reactome Pathways for NR2E1
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    NR2E1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR2E1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/53 Interacting proteins for NR2E1 (Q9Y4663 ENSP000003579824) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC3O153793, ENSP000003029674I2D: score=1 STRING: ENSP00000302967
    HDAC7Q8WUI43, ENSP000000800594I2D: score=1 STRING: ENSP00000080059
    RCOR1Q9UKL03, ENSP000002622414I2D: score=1 STRING: ENSP00000262241
    REREQ9P2R63, ENSP000003386294I2D: score=1 STRING: ENSP00000338629
    ZMYM2Q9UBW73, ENSP000003723224I2D: score=1 STRING: ENSP00000372322
    About this table

    Gene Ontology (GO): 5/41 biological process terms (GO ID links to tree view) (see all 41):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0001662behavioral fear response IEA--
    GO:0002118aggressive behavior IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----

    NR2E1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NR2E1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NR2E1

    1 Novoseek inferred chemical compound relationship for NR2E1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 18.7 5 9628820 (1), 2364433 (1), 1638983 (1)

    Search CenterWatch for drugs/clinical trials and news about NR2E1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NR2E1 gene: 
    NM_003269.3  

    Unigene Cluster for NR2E1:

    Nuclear receptor subfamily 2, group E, member 1
    Hs.157688  [show with all ESTs]
    Unigene Representative Sequence: NM_003269
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368986(uc003psg.3) ENST00000368983 ENST00000426403 ENST00000484978

    miRNA
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    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate NR2E1 (see all 31):
    hsa-miR-3910 hsa-miR-4291 hsa-miR-302d hsa-miR-520e hsa-miR-19b-2* hsa-miR-16-2* hsa-miR-548k hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidNR2E1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NR2E1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR2E1

    Additional mRNA sequence: 

    AB307709.1 AF220532.1 AF411525.1 AK131541.1 BC028031.1 HQ692846.1 Y13276.1 

    2 DOTS entries:

    DT.40198940  DT.102820672 

    13 AceView cDNA sequences:

    AF411525 AF220532 BC028031 BX442523 NM_003269 Y13276 BV187342 AK131541 
    D80939 BI916973 R18964 R43976 CB960275 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NR2E1 expression in normal human tissues (normalized intensities)      NR2E1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAAAGAG
    NR2E1 Expression
    About this image


    NR2E1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             superior temporal gyrus   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             sensory organ/nose/nasal cavity   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process

    See NR2E1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR2E1

    SOURCE GeneReport for Unigene cluster: Hs.157688

    UniProtKB/Swiss-Prot: NR2E1_HUMAN, Q9Y466
    Tissue specificity: Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus
    and hippocampus, weakest levels in the thalamus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NR2E1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr2e11 , 5 nuclear receptor subfamily 2, group E, member 11, 5 91.86(n)1
    98.96(a)1
      10 (22.89 cM)5
    219071  NM_152229.21  NP_689415.11 
     425619635 
    chicken
    (Gallus gallus)
    Aves NR2E11 nuclear receptor subfamily 2, group E, member 1 87.1(n)
    97.14(a)
      396082  NM_205170.1  NP_990501.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR2E16
    nuclear receptor subfamily 2, group E, member 1
    91(a)
    1 ↔ 1
    1(190390302-190427909)
    African clawed frog
    (Xenopus laevis)
    Amphibia nr2e1-A2 nuclear receptor subfamily 2, group E, member 1 79.34(n)    U67886.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570485462   -- 76.5(n)    57048546 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsf1 , 3 male courtship behavior transcription
    factor3
    dissatisfaction1
    73(a)
    (best of 2)3
    57.51(n)1
    54.3(a)1
      338231  NM_057792.21  NP_477140.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-671 , 3 nuclear hormone receptor3
    Protein NHR-671
    30(a)3
    48.46(n)1
    39.59(a)1
      IV(11170009-11174717)3
    1780241  NM_069693.21  NP_502094.11 


    ENSEMBL Gene Tree for NR2E1 (if available)
    TreeFam Gene Tree for NR2E1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR2E1 gene
    NR5A22  RXRA2  RXRG2  NR2F12  NR5A12  NR2F22  NR2C12  HNF4G2  
    NR2F62  HNF4A2  RXRB2  NR2C22  NR6A12  
    18/23 SIMAP similar genes for NR2E1 using alignment to 4 protein entries:     NR2E1_HUMAN (see all proteins) (see all similar genes):
    VDR    NR2E3    NR2B2    NR2F6    NR2F2    RXRA
    NR2B1    RXRB    NR2B3    RXRG    NR2F1    HNF4G
    NR1I3    ESR1    HNF4A    NR2A3    NR2A1    ERRgamma

    NR2E1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NR2E1
    PGOHUM00000262254


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/403 SNPs in NR2E1 are shown (see all 403)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2818655101,2
    Cuntested1108486463(+) GGAGGA/GGGTAG 1 -- us2k10--------
    rs1397373921,2
    --108485231(+) TTTGAC/GACAAT 1 -- us2k10--------
    rs1493589881,2
    --108485345(+) AAAGCC/TATCGT 1 -- us2k10--------
    rs1856887971,2
    --108485365(+) GCACAA/GGCAAA 1 -- us2k10--------
    rs797642001,2
    C--108485449(+) ACCCCA/CCACAC 1 -- us2k10--------
    rs800393131,2
    F--108485569(+) CTGAAG/ACAAGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs2175391,2
    C,F,H--108485641(+) TCTCAA/GATCCT 1 -- us2k124Minor allele frequency- G:0.08EA NA MN NS WA CSA 2320
    rs1809493631,2
    --108485644(+) CAAATC/TCTGCC 1 -- us2k10--------
    rs1851295721,2
    --108485651(+) TGCCCC/GAAATT 1 -- us2k10--------
    rs1887152121,2
    --108485757(+) GATTTC/GTCCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NR2E1 (108487215 - 108510013 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NR2E1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830766CNV Loss17160897


    Human Gene Mutation Database (HGMD): NR2E1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NR2E1
    DNA2.0 Custom Variant and Variant Library Synthesis for NR2E1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603849    OMIM disorders: --

    11 diseases for NR2E1:    About MalaCards
    autism spectrum disorder    microcephaly    microphthalmia    bipolar disorder
    kidney disease    hypoxia    schizophrenia    cerebritis
    retinitis    neuronitis    leukemia


    NR2E1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NR2E1
    Human Genome Epidemiology (HuGE) Navigator: NR2E1 (3 documents)

    Export disorders for NR2E1 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)
    About This Section

    PubMed articles for NR2E1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with NR2E1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homologue of the Drosophila tailless gene (TLX): characterization and mapping to a region of common deletion in human lymphoid leukemia on chromosome 6q21. (PubMed id 9628820)1, 2, 3, 9 Jackson A.... Foroni L. (1998)
    2. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (2009)
    3. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. (PubMed id 18205168)1, 4 Kumar R.A....Simpson E.M. (2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Cell-type-specific regulation of the retinoic acid receptor mediated by the orphan nuclear receptor TLX. (PubMed id 11073974)1, 2 Kobayashi M.... Umesono K. (2000)
    7. Relationship between Drosophila gap gene tailless and a vertebrate nuclear receptor Tlx. (PubMed id 8047143)1, 9 Yu R.T....Umesono K. (1994)
    8. Transcriptional activation of NAD+-dependent protein deacetylase SIRT1 by nuclear receptor TLX. (PubMed id 19555662)1, 9 Iwahara N....Horio Y. (2009)
    9. A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors. (PubMed id 23975195)1 Chan C.M....Heery D.M. (2013)
    10. Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice. (PubMed id 22290436)1 Schmouth J.F....Simpson E.M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 7101 HGNC: 7973 AceView: NR2E1 Ensembl:ENSG00000112333 euGenes: HUgn7101
    ECgene: NR2E1 H-InvDB: NR2E1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NR2E1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NR2E1 gene:
    Search GeneIP for patents involving NR2E1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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