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

NR2E1 Gene

protein-coding   GIFtS: 61
GCID: GC06P108487

nuclear receptor subfamily 2, group E, member 1


(Previous symbol: TLX)
 Explore 13 diseases affiliated with
NR2E1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NR2E1    

Aliases
for NR2E1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nuclear Receptor Subfamily 2, Group E, Member 11 2     HTll1
TLX1 2 3 5     Nuclear Receptor Subfamily 2 Group E Member 12
TLL1 2     Tailes-Related Receptor2
XTLL1 2     Tailless Homolog2
Nuclear Receptor TLX2 3     Tll3
Protein Tailless Homolog2 3     

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


Summaries
for NR2E1 gene

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


Genomic Views
for NR2E1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
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 plasmid: NR2E1 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

Proteins
for NR2E1 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y466

    • NR2E1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003260.1  
    ENSEMBL proteins: 
     ENSP00000357982   ENSP00000357979   ENSP00000416908  
    Reactome Protein details: Q9Y466
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: NR2E1
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    Novus Biologicals NR2E1 Proteins
    Novus Biologicals NR2E1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    NR2E1 Antibody Products: 
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    Uscn ELISAs and CLIAs for NR2E1

    Protein Domains /
    Families
    for NR2E1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NR2E1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q9Y466

    ProtoNet protein and cluster: Q9Y466

    1 Blocks protein family: 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


    Function
    for NR2E1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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)

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

    OriGene 3'-UTR Clone: NR2E1
    Browse MicroRNA Expression Plasmids
    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 plasmid: NR2E1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR2E1 (see all 7)
    OriGene shRNA RFP: NR2E1
    OriGene siRNA: NR2E1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR2E1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NR2E1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR2E1 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR2E1 

    Cell Line
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    Search LifeMap BioReagents cell lines for NR2E1

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

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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


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

    Animal Models:
         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


    Pathways & Interactions
    for NR2E1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    2Nuclear Receptor transcription pathway
    		Nuclear Receptor transcription pathway1.00
    		Nuclear Receptors0.68

    Pathway sources
    See GeneCards unified pathways
    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): 5/40 biological process terms (GO ID links to tree view) (see all 40):    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:0006367transcription initiation from RNA polymerase II promoter TAS--


    NR2E1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NR2E1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for NR2E1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
    Products:             		 OriGene 3'-UTR Clone: NR2E1
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: NR2E1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR2E1 (see all 7)
    OriGene shRNA RFP: NR2E1
    OriGene siRNA: NR2E1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NR2E1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NR2E1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NR2E1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NR2E1 (NM_003269)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NR2E1 
    Primer
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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 cDNA 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:

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

    GeneLoc Exon Structure


    Expression
    for NR2E1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAAAAAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NR2E1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    EyeRetinaEye
    Head MesenchymeFrontonasal ProcessHead Mesenchyme
    Neural TubeDiencephalic Ventricular ZoneNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for NR2E1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NR2E1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E1

    Orthologs
    for NR2E1 gene

    (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 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 96(a)
    		 1 ↔ 1
    		 1(190404310-190427909)
    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
    for NR2E1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR2E1 gene
    ESRRA2  RXRG2  PGR2  ESR22  ESRRB2  HNF4G2  NR2F62  ESRRG2  
    NR3C22  RXRA2  NR2F12  NR3C12  NR2F22  AR2  ESR12  NR2C12  
    HNF4A2  NR2C22  RXRB2  
    18/24 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    NR2B3    RXRG    NR2F1    HNF4G    RXRB
    NR1I3    ESR1    HNF4A    NR2A3    NR2A1    ERRgamma

    NR2E1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NR2E1
    PGOHUM00000262254


    Genomic Variants
    for NR2E1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/317 NCBI SNPs in NR2E1 are shown (see all 317)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1397373921,2
    		--108485231(+) TTTGAC/GACAAT 1 -- us2k10--------
    rs1493589881,2
    		--108485345(+) AAAGCC/TATCGT 1 -- us2k10--------
    rs1856887971,2
    		--108485365(+) GCACAA/GGCAAA 1 -- us2k10--------
    rs797642001,2
    		--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--------
    rs1446789051,2
    		--108485812(+) ATCCCA/CCAATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NR2E1 (108487215 - 108510013 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NR2E1
         1 CNV: 4505
    Human Gene Mutation Database (HGMD): NR2E1

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    Disorders / Diseases
    for NR2E1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NR2E1 for disorders           About GeneDecksing

    OMIM gene information: 603849    OMIM disorders: --

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

    Human Genome Epidemiology (HuGE) Navigator: NR2E1 (3 documents)

    Export disorders for NR2E1 gene to outside databases

    Publications
    for NR2E1 gene

    (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 44):
    (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. 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)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. 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)
    5. Relationship between Drosophila gap gene tailless and a vertebrate nuclear receptor Tlx. (PubMed id 8047143)1, 9 Yu R.T....Umesono K. (1994)
    6. Transcriptional activation of NAD+-dependent protein deacetylase SIRT1 by nuclear receptor TLX. (PubMed id 19555662)1, 9 Iwahara N....Horio Y. (2009)
    7. 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)
    8. The nuclear receptor TLX is required for gliomagenesis within the adult neurogenic niche. (PubMed id 23028043)1 Zou Y....Zhang C.L. (2012)
    9. The Oncoprotein BCL11A Binds to Orphan Nuclear Receptor TLX and Potentiates its Transrepressive Function. (PubMed id 22675500)1 Estruch S.B....Estebanez-Perpina E. (2012)
    10. MicroRNA-9 regulates neurogenesis in mouse telencepha lon by targeting multiple transcription factors. (PubMed id 21368052)1 Shibata M....Aizawa S. (2011)

    External Searches for NR2E1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing NR2E1 gene

    (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

    Other Databases showing NR2E1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NR2E1 gene

    (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

    Intellectual Property
    for NR2E1 gene

    (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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