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    NR2E1 nuclear receptor subfamily 2 group E member 1 [ Homo sapiens (human) ]

    Gene ID: 7101, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NR2E1provided by HGNC
    Official Full Name
    nuclear receptor subfamily 2 group E member 1provided by HGNC
    Primary source
    HGNC:HGNC:7973
    See related
    Ensembl:ENSG00000112333 MIM:603849; AllianceGenome:HGNC:7973
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TLL; TLX; XTLL
    Summary
    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]
    Expression
    Restricted expression toward brain (RPKM 4.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See NR2E1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108166022..108188809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (109343129..109365912)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (108487226..108510013)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene osteoclastogenesis associated transmembrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17446 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:108401031-108401700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108438941-108439528 Neighboring gene uncharacterized LOC124901368 Neighboring gene OSTM1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24909 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108479041-108479939 Neighboring gene NANOG hESC enhancer GRCh37_chr6:108481039-108481540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108484466-108485367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108486269-108487170 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:108488071-108488972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108489873-108490774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:108490775-108491674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:108497591-108498326 Neighboring gene Sharpr-MPRA regulatory region 5034 Neighboring gene uncharacterized LOC124901369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24910 Neighboring gene MPRA-validated peak6010 silencer Neighboring gene MPRA-validated peak6011 silencer Neighboring gene sorting nexin 3 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nordihydroguaiaretic acid blocks the synaptic component of long-term potentiation and the associated increases in release of glutamate and arachidonate: an in vivo study in the dentate gyrus of the rat. Lynch MA, et al. Neuroscience, 1989. PMID 2570372
    2. Absence of NR2E1 mutations in patients with aniridia. Corso-Díaz X, et al. Mol Vis, 2012. PMID 23213277, Free PMC Article
    3. The neural stem cell fate determinant TLX promotes tumorigenesis and genesis of cells resembling glioma stem cells. Park HJ, et al. Mol Cells, 2010 Nov. PMID 20814749
    4. Structural basis for corepressor assembly by the orphan nuclear receptor TLX. Zhi X, et al. Genes Dev, 2015 Feb 15. PMID 25691470, Free PMC Article
    5. The relationship between NR2E1 and subclinical inflammation in newly diagnosed type 2 diabetic patients. Sun L, et al. J Diabetes Complications, 2015 May-Jun. PMID 25813674

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A NR2E1-interacting peptide of LSD1 inhibits the proliferation of brain tumour initiating cells.
      Title: A NR2E1-interacting peptide of LSD1 inhibits the proliferation of brain tumour initiating cells.
    2. The nuclear receptor TLX (NR2E1) inhibits growth and progression of triple- negative breast cancer.
      Title: The nuclear receptor TLX (NR2E1) inhibits growth and progression of triple- negative breast cancer.
    3. TLX, an Orphan Nuclear Receptor With Emerging Roles in Physiology and Disease.
      Title: TLX, an Orphan Nuclear Receptor With Emerging Roles in Physiology and Disease.
    4. Orphan nuclear receptor TLX promotes immunosuppression via its transcriptional activation of PD-L1 in glioma.
      Title: Orphan nuclear receptor TLX promotes immunosuppression via its transcriptional activation of PD-L1 in glioma.
    5. Tumorigenic effects of TLX overexpression in HEK 293T cells.
      Title: Tumorigenic effects of TLX overexpression in HEK 293T cells.
    6. Genetic analysis of the NR2E1 gene as a candidate gene of schizophrenia.
      Title: Genetic analysis of the NR2E1 gene as a candidate gene of schizophrenia.
    7. ASK1 phosphorylated and stabilized TLX, which led induction of HIF-1alpha, and its downstream VEGF-A in an Akt dependent manner.
      Title: ASK1 regulates the survival of neuroblastoma cells by interacting with TLX and stabilizing HIF-1α.
    8. The interaction between TLX and TGF-beta may play an important role in the regulation of proliferation and tumor-initiating properties of glioblastoma cells.
      Title: Nuclear receptor TLX inhibits TGF-β signaling in glioblastoma.
    9. TLX and miR-219 have an important role in both normal neurodevelopment and in schizophrenia patient iPSC-derived NSCs. TLX has a role in regulating microRNA processing, independent of its well-characterized role in transcriptional regulation.
      Title: The TLX-miR-219 cascade regulates neural stem cell proliferation in neurodevelopment and schizophrenia iPSC model.
    10. TLX downregulation induces TET3 expression and inhibits glioblastoma tumorigenesis and self-renewal in glioblastoma stem cells.
      Title: Downregulation of TLX induces TET3 expression and inhibits glioblastoma stem cell self-renewal and tumorigenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear steroid receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in aggressive behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in amygdala development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterior commissure morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in astrocyte cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in forebrain generation of neurons IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in layer formation in cerebral cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neural precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in olfactory bulb development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell migration involved in sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of timing of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in social behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid hormone receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    nuclear receptor subfamily 2 group E member 1
    Names
    nuclear receptor TLX
    protein tailless homolog
    tailes-related receptor
    tailless

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042807.1 RefSeqGene

      Range
      4965..27748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286102.1 → NP_001273031.1  nuclear receptor subfamily 2 group E member 1 isoform a

      See identical proteins and their annotated locations for NP_001273031.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AF220532, AK131541
      Consensus CDS
      CCDS69165.1
      UniProtKB/Swiss-Prot
      Q9Y466
      Related
      ENSP00000357979.3, ENST00000368983.3
      Conserved Domains (2) summary
      cd06950
      Location:191 → 406
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd07163
      Location:45 → 136
      NR_DBD_TLX; DNA-binding domain of Tailless (TLX) is composed of two C4-type zinc fingers

    2. NM_003269.5 → NP_003260.1  nuclear receptor subfamily 2 group E member 1 isoform b

      See identical proteins and their annotated locations for NP_003260.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AF220532, AF411525, AL078596, BC028031
      Consensus CDS
      CCDS5063.1
      UniProtKB/Swiss-Prot
      Q6ZMP8, Q9Y466
      UniProtKB/TrEMBL
      B6ZGT9
      Related
      ENSP00000357982.5, ENST00000368986.9
      Conserved Domains (2) summary
      cd06950
      Location:154 → 369
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd07163
      Location:8 → 99
      NR_DBD_TLX; DNA-binding domain of Tailless (TLX) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      108166022..108188809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      109343129..109365912
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y466.1 GenPept UniProtKB/Swiss-Prot:Q9Y466

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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