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

Gene ID: 7101, updated on 5-Aug-2026
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
all
Try the new Gene page
Try the new Transcripts and proteins table
See NR2E1 in Genome Data Viewer
Location:
6q21
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (108166022..108188809)
RS_2025_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

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. Kumar RA, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Sep 5. PMID 18205168
  2. 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
  3. The human orphan nuclear receptor tailless (TLX, NR2E1) is druggable. Benod C, et al. PLoS One, 2014. PMID 24936658, Free PMC Article
  4. TLX-Its Emerging Role for Neurogenesis in Health and Disease. Sobhan PK, et al. Mol Neurobiol, 2017 Jan. PMID 26738856, Free PMC Article
  5. TLX: A master regulator for neural stem cell maintenance and neurogenesis. Islam MM, et al. Biochim Biophys Acta, 2015 Feb. PMID 24930777, Free PMC Article

See all (85) 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)

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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

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 IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables enzyme binding IEA
Inferred from Electronic Annotation
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 DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular receptor signaling pathway 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in nuclear receptor-mediated steroid hormone signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neural precursor cell 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 DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
nuclear receptor subfamily 2 group E member 1
Names
nuclear receptor TLX
protein tailless homolog
tailes-related receptor
tailless

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_001286102.1 → 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/TrEMBL
    A0ACI8PM74
    Related
    ENSP00000357979.3, ENST00000368983.4
    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
    A0ACI8PM74, 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_2025_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

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