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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Tumorigenic effects of TLX overexpression in HEK 293T cells.
Title: Tumorigenic effects of TLX overexpression in HEK 293T cells.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN49728 (e-PCR)
- UniSTS:374528

ECD01522 (e-PCR)
- UniSTS:282625

REN49729 (e-PCR)
- UniSTS:374529

REN49730 (e-PCR)
- UniSTS:374530

REN49731 (e-PCR)
- UniSTS:374531

REN49732 (e-PCR)
- UniSTS:374532

REN49733 (e-PCR)
- UniSTS:374533

REN49734 (e-PCR)
- UniSTS:374534

REN49735 (e-PCR)
- UniSTS:374535

REN49736 (e-PCR)
- UniSTS:374536

ECD07468 (e-PCR)
- UniSTS:288521

REN49737 (e-PCR)
- UniSTS:374537

REN49738 (e-PCR)
- UniSTS:374538

REN49739 (e-PCR)
- UniSTS:374539

REN49740 (e-PCR)
- UniSTS:374540

ECD09532 (e-PCR)
- UniSTS:290573

REN49741 (e-PCR)
- UniSTS:374541

REN49742 (e-PCR)
- UniSTS:374542

REN49743 (e-PCR)
- UniSTS:374543

REN49744 (e-PCR)
- UniSTS:374544

REN49745 (e-PCR)
- UniSTS:374545

ECD05160 (e-PCR)
- UniSTS:286226

REN49746 (e-PCR)
- UniSTS:374546

ECD06189 (e-PCR)
- UniSTS:287251

REN49747 (e-PCR)
- UniSTS:374547

REN49748 (e-PCR)
- UniSTS:374548

REN49749 (e-PCR)
- UniSTS:374549

REN49750 (e-PCR)
- UniSTS:374550

REN49751 (e-PCR)
- UniSTS:374551

REN49752 (e-PCR)
- UniSTS:374552

REN49753 (e-PCR)
- UniSTS:374553

REN49754 (e-PCR)
- UniSTS:374554

REN49755 (e-PCR)
- UniSTS:374555

REN49756 (e-PCR)
- UniSTS:374556

REN49757 (e-PCR)
- UniSTS:374557

ECD14174 (e-PCR)
- UniSTS:295198

REN49758 (e-PCR)
- UniSTS:374558

REN49759 (e-PCR)
- UniSTS:374559

REN49760 (e-PCR)
- UniSTS:374560

RH46630 (e-PCR)
- UniSTS:2081

REN49762 (e-PCR)
- UniSTS:374562

REN49763 (e-PCR)
- UniSTS:374563

REN49764 (e-PCR)
- UniSTS:374564

REN49765 (e-PCR)
- UniSTS:374565

REN49766 (e-PCR)
- UniSTS:374566

REN49767 (e-PCR)
- UniSTS:374567

REN49768 (e-PCR)
- UniSTS:374568

REN49769 (e-PCR)
- UniSTS:374569

REN49770 (e-PCR)
- UniSTS:374570

REN49771 (e-PCR)
- UniSTS:374571

NR2E1_2053 (e-PCR)
- UniSTS:280876

REN49772 (e-PCR)
- UniSTS:374572

REN49773 (e-PCR)
- UniSTS:374573

REN49774 (e-PCR)
- UniSTS:374574

REN49775 (e-PCR)
- UniSTS:374575

ECD01053 (e-PCR)
- UniSTS:282160

REN49776 (e-PCR)
- UniSTS:374576

REN49777 (e-PCR)
- UniSTS:374577

ECD01312 (e-PCR)
- UniSTS:282418

REN49778 (e-PCR)
- UniSTS:374578

REN49779 (e-PCR)
- UniSTS:374579

REN49780 (e-PCR)
- UniSTS:374580

REN49781 (e-PCR)
- UniSTS:374581

ECD06482 (e-PCR)
- UniSTS:287542

REN49782 (e-PCR)
- UniSTS:374582

REN49783 (e-PCR)
- UniSTS:374583

REN49784 (e-PCR)
- UniSTS:374584

REN49785 (e-PCR)
- UniSTS:374585

ECD04940 (e-PCR)
- UniSTS:286010

REN49786 (e-PCR)
- UniSTS:374586

REN49787 (e-PCR)
- UniSTS:374587

ECD07002 (e-PCR)
- UniSTS:288060

ECD18313 (e-PCR)
- UniSTS:299324

REN49788 (e-PCR)
- UniSTS:374588

REN49789 (e-PCR)
- UniSTS:374589

REN49790 (e-PCR)
- UniSTS:374590

REN49791 (e-PCR)
- UniSTS:374591

ECD06748 (e-PCR)
- UniSTS:287808

REN49792 (e-PCR)
- UniSTS:374592

REN49793 (e-PCR)
- UniSTS:374593

REN49794 (e-PCR)
- UniSTS:374594

REN49795 (e-PCR)
- UniSTS:374595

REN49796 (e-PCR)
- UniSTS:374596

REN49797 (e-PCR)
- UniSTS:374597

REN49798 (e-PCR)
- UniSTS:374598

REN49799 (e-PCR)
- UniSTS:374599

REN49800 (e-PCR)
- UniSTS:374600

REN49801 (e-PCR)
- UniSTS:374601

REN49802 (e-PCR)
- UniSTS:374602

REN49803 (e-PCR)
- UniSTS:374603

REN49804 (e-PCR)
- UniSTS:374604

REN49805 (e-PCR)
- UniSTS:374605

REN49806 (e-PCR)
- UniSTS:374606

REN49807 (e-PCR)
- UniSTS:374607

REN49808 (e-PCR)
- UniSTS:374608

ECD22712 (e-PCR)
- UniSTS:303697

REN49809 (e-PCR)
- UniSTS:374609

REN49810 (e-PCR)
- UniSTS:374610

ECD01345 (e-PCR)
- UniSTS:282451

ECD14486 (e-PCR)
- UniSTS:295507

ECD01610 (e-PCR)
- UniSTS:282712

ECD05760 (e-PCR)
- UniSTS:286822

ECD12191 (e-PCR)
- UniSTS:293224

ECD16321 (e-PCR)
- UniSTS:297336

ECD06037 (e-PCR)
- UniSTS:287099

ECD06561 (e-PCR)
- UniSTS:287621

ECD09913 (e-PCR)
- UniSTS:290954

ECD06842 (e-PCR)
- UniSTS:287900

ECD08149 (e-PCR)
- UniSTS:289197

D6S1594 (e-PCR)
- UniSTS:21166

ECD06364 (e-PCR)
- UniSTS:287426

ECD13087 (e-PCR)
- UniSTS:294118

REN49703 (e-PCR)
- UniSTS:374503

REN49704 (e-PCR)
- UniSTS:374504

REN49705 (e-PCR)
- UniSTS:374505

REN49706 (e-PCR)
- UniSTS:374506

REN49707 (e-PCR)
- UniSTS:374507

REN49708 (e-PCR)
- UniSTS:374508

REN49709 (e-PCR)
- UniSTS:374509

ECD10783 (e-PCR)
- UniSTS:291822

REN49710 (e-PCR)
- UniSTS:374510

REN49711 (e-PCR)
- UniSTS:374511

REN49712 (e-PCR)
- UniSTS:374512

ECD05899 (e-PCR)
- UniSTS:286961

REN49713 (e-PCR)
- UniSTS:374513

REN49714 (e-PCR)
- UniSTS:374514

REN49715 (e-PCR)
- UniSTS:374515

REN49716 (e-PCR)
- UniSTS:374516

REN49717 (e-PCR)
- UniSTS:374517

REN49718 (e-PCR)
- UniSTS:374518

REN49719 (e-PCR)
- UniSTS:374519

REN49720 (e-PCR)
- UniSTS:374520

REN49721 (e-PCR)
- UniSTS:374521

REN49722 (e-PCR)
- UniSTS:374522

REN49723 (e-PCR)
- UniSTS:374523

REN49724 (e-PCR)
- UniSTS:374524

REN49725 (e-PCR)
- UniSTS:374525

REN49726 (e-PCR)
- UniSTS:374526

REN49727 (e-PCR)
- UniSTS:374527

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

NG_042807.1 RefSeqGene

Range

4965..27748

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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