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

    Gene ID: 7101, updated on 19-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR2E1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108166022..108188809)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (109343129..109365912)
    105.20220307 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

    Expression

    • Project title: 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 anatomical structure development IBA
    Inferred from Biological aspect of Ancestor
    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
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001286102.1NP_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:191406
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd07163
      Location:45136
      NR_DBD_TLX; DNA-binding domain of Tailless (TLX) is composed of two C4-type zinc fingers
    2. NM_003269.5NP_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:154369
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd07163
      Location:899
      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_2023_10

    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)