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Aliases for NR2E1 Gene

Aliases for NR2E1 Gene

  • Nuclear Receptor Subfamily 2 Group E Member 1 2 3 5
  • Protein Tailless Homolog 3 4
  • Nuclear Receptor TLX 3 4
  • TLX 3 4
  • TLL 3 4
  • Nuclear Receptor Subfamily 2, Group E, Member 1 2
  • Tailes-Related Receptor 3
  • XTLL 3
  • HTll 4

External Ids for NR2E1 Gene

Previous HGNC Symbols for NR2E1 Gene

  • TLX

Previous GeneCards Identifiers for NR2E1 Gene

  • GC06P108322
  • GC06P108510
  • GC06P108532
  • GC06P108593
  • GC06P108487
  • GC06P106055

Summaries for NR2E1 Gene

Entrez Gene Summary for NR2E1 Gene

  • The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for NR2E1 Gene

NR2E1 (Nuclear Receptor Subfamily 2 Group E Member 1) is a Protein Coding gene. Diseases associated with NR2E1 include Aniridia. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and enzyme binding. An important paralog of this gene is NR2E3.

UniProtKB/Swiss-Prot for NR2E1 Gene

  • 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 acid receptor (RAR) regulation in retinal cells.

Gene Wiki entry for NR2E1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR2E1 Gene

Genomics for NR2E1 Gene

Regulatory Elements for NR2E1 Gene

Enhancers for NR2E1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G108113 2.1 VISTA Ensembl 11.7 -42.7 -42741 3.7 CREB3L1 ZSCAN4 YBX1 ZNF2 ZNF48 RAD21 ZNF366 ZNF143 ZNF263 ZNF654 NR2E1 OSTM1 OSTM1-AS1 ENSG00000238490
GH06G108117 1.7 Ensembl 12.6 -39.9 -39949 1.4 SUZ12 CEBPG RBBP5 ZBTB48 EZH2 RNF2 L3MBTL2 HLF CBX2 CHD1 NR2E1 OSTM1 SEC63 OSTM1-AS1 ENSG00000238490
GH06G108133 1.2 Ensembl ENCODE 12.6 -24.0 -23981 1.5 PKNOX1 SIN3A ZNF2 ZNF48 GLIS2 KLF7 ZNF263 TSHZ1 KAT8 CBX8 NR2E1 OSTM1 SEC63 GC06M108139 OSTM1-AS1
GH06G108541 1.4 Ensembl ENCODE dbSUPER 9.4 +384.0 384021 0.7 ELF3 HDGF ARNT WRNIP1 YBX1 ZNF2 RAD21 ZNF366 SCRT2 ZNF391 ARMC2 RNU6-653P ARMC2-AS1 SEC63 OSTM1 NR2E1 ENSG00000271608 GC06P108423 GC06P108424
GH06G108127 1 ENCODE 12.6 -30.1 -30094 0.2 PKNOX1 FOXA2 MLX FEZF1 ZNF2 YY1 FOS ZHX2 ZNF518A SREBF1 NR2E1 OSTM1 OSTM1-AS1 GC06M108139
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NR2E1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR2E1 Gene

Chromosome:
6
Start:
108,158,115 bp from pter
End:
108,188,809 bp from pter
Size:
30,695 bases
Orientation:
Plus strand

Genomic View for NR2E1 Gene

Genes around NR2E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR2E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR2E1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR2E1 Gene

Proteins for NR2E1 Gene

  • Protein details for NR2E1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y466-NR2E1_HUMAN
    Recommended name:
    Nuclear receptor subfamily 2 group E member 1
    Protein Accession:
    Q9Y466
    Secondary Accessions:
    • Q6ZMP8

    Protein attributes for NR2E1 Gene

    Size:
    385 amino acids
    Molecular mass:
    42589 Da
    Quaternary structure:
    • Monomer. Interacts with ATN1; the interaction represses the transcription.

    Three dimensional structures from OCA and Proteopedia for NR2E1 Gene

    Alternative splice isoforms for NR2E1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR2E1 Gene

Post-translational modifications for NR2E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR2E1 Gene

No data available for DME Specific Peptides for NR2E1 Gene

Domains & Families for NR2E1 Gene

Gene Families for NR2E1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y466

UniProtKB/Swiss-Prot:

NR2E1_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
genes like me logo Genes that share domains with NR2E1: view

Function for NR2E1 Gene

Molecular function for NR2E1 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot 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 acid receptor (RAR) regulation in retinal cells.

Gene Ontology (GO) - Molecular Function for NR2E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003707 steroid hormone receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with NR2E1: view
genes like me logo Genes that share phenotypes with NR2E1: view

Animal Models for NR2E1 Gene

MGI Knock Outs for NR2E1:

Animal Model Products

CRISPR Products

Targeted motifs for NR2E1 Gene
HOMER Transcription Factor Regulatory Elements motif NR2E1
  • Consensus sequence: CTGGCAGGCTGCCA Submotif: canonical Cell Type: NPC GEO ID: GSE16256

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NR2E1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NR2E1 Gene

Localization for NR2E1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR2E1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR2E1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for NR2E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NR2E1: view

Pathways & Interactions for NR2E1 Gene

genes like me logo Genes that share pathways with NR2E1: view

Pathways by source for NR2E1 Gene

1 BioSystems pathway for NR2E1 Gene

SIGNOR curated interactions for NR2E1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NR2E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001662 behavioral fear response IEA --
GO:0002118 aggressive behavior IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NR2E1: view

Drugs & Compounds for NR2E1 Gene

(1) Additional Compounds for NR2E1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR2E1: view

Transcripts for NR2E1 Gene

mRNA/cDNA for NR2E1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NR2E1 Gene

Nuclear receptor subfamily 2, group E, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NR2E1

Alternative Splicing Database (ASD) splice patterns (SP) for NR2E1 Gene

No ASD Table

Relevant External Links for NR2E1 Gene

GeneLoc Exon Structure for
NR2E1
ECgene alternative splicing isoforms for
NR2E1

Expression for NR2E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NR2E1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR2E1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x8.0), Brain - Nucleus accumbens (basal ganglia) (x7.7), Brain - Amygdala (x7.4), Brain - Putamen (basal ganglia) (x6.1), Brain - Cortex (x5.0), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Hippocampus (x4.7).

Protein differential expression in normal tissues from HIPED for NR2E1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NR2E1 Gene



Protein tissue co-expression partners for NR2E1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NR2E1 Gene:

NR2E1

SOURCE GeneReport for Unigene cluster for NR2E1 Gene:

Hs.157688

mRNA Expression by UniProt/SwissProt for NR2E1 Gene:

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

Evidence on tissue expression from TISSUES for NR2E1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with NR2E1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NR2E1 Gene

Orthologs for NR2E1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR2E1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR2E1 34 35
  • 99.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NR2E1 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR2E1 34 35
  • 94.55 (n)
dog
(Canis familiaris)
Mammalia NR2E1 34 35
  • 94.55 (n)
mouse
(Mus musculus)
Mammalia Nr2e1 34 16 35
  • 91.86 (n)
rat
(Rattus norvegicus)
Mammalia Nr2e1 34
  • 91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NR2E1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR2E1 34 35
  • 87.1 (n)
lizard
(Anolis carolinensis)
Reptilia NR2E1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2e1 34
  • 80.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia nr2e1-A 34
zebrafish
(Danio rerio)
Actinopterygii nr2e1 34 35
  • 76.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta dsf 36 34
  • 57.4 (n)
tll 36 35
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea nhr-67 36 34
  • 50 (n)
Species where no ortholog for NR2E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR2E1 Gene

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

Paralogs for NR2E1 Gene

Paralogs for NR2E1 Gene

genes like me logo Genes that share paralogs with NR2E1: view

Variants for NR2E1 Gene

Sequence variations from dbSNP and Humsavar for NR2E1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000059805 -- 108,187,623(+) AGCTA(G/T)GACCT utr-variant-3-prime
rs1000123856 -- 108,178,986(+) AGTGT(C/T)CCCAA intron-variant
rs1000294231 -- 108,179,460(+) TCTTT(G/T)ACCAG intron-variant
rs1000332505 -- 108,174,821(+) CCTCC(C/T)GCTCT intron-variant
rs1000625705 -- 108,174,131(+) TTGCC(C/T)TCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NR2E1 Gene

Variant ID Type Subtype PubMed ID
nsv830766 CNV loss 17160897

Variation tolerance for NR2E1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.44; 9.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR2E1 Gene

Human Gene Mutation Database (HGMD)
NR2E1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR2E1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR2E1 Gene

Disorders for NR2E1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NR2E1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aniridia
  • cataract with late-onset corneal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search NR2E1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NR2E1

Genetic Association Database (GAD)
NR2E1
Human Genome Epidemiology (HuGE) Navigator
NR2E1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR2E1
genes like me logo Genes that share disorders with NR2E1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR2E1 Gene

Publications for NR2E1 Gene

  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. (PMID: 9628820) Jackson A. … Foroni L. (Genomics 1998) 2 3 4 22 64
  2. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 46 64
  3. Transcriptional activation of NAD+-dependent protein deacetylase SIRT1 by nuclear receptor TLX. (PMID: 19555662) Iwahara N. … Horio Y. (Biochem. Biophys. Res. Commun. 2009) 3 22 64
  4. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. (PMID: 18205168) Kumar R.A. … Simpson E.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NR2E1 Gene

  • Addgene plasmids for NR2E1

Sources for NR2E1 Gene

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