NR2E1 - nuclear receptor subfamily 2 group E member 1 Gene

Also Known as TLL; TLX; XTLL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7101

About NR2E1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:108,166,022-108,188,809 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 11 paralogues. Restricted expression toward brain (RPKM 4.0).

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]

NR2E1 Products (2)

mRNA Protein Name
NM_001286102.1 NP_001273031.1 nuclear receptor subfamily 2 group E member 1 isoform a
NM_003269.5 NP_003260.1 nuclear receptor subfamily 2 group E member 1 isoform b

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28420882 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR2E1 Protein Structure

zf-C4

zf-C4: Zinc finger, C4 type (two domains) (15 - 85)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (182 - 366)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
Protein Preferred Names Protein Names

nuclear receptor subfamily 2 group E member 1

  • nuclear receptor TLX

NR2E1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NR2E1 Q9Y466 KDM1A Homo sapiens O60341
Anti Tag CoIP
36321378
Intra
NR2E1 Q9Y466 KDM1A Homo sapiens O60341
PLA
28420882
Intra
NR2E1 Q9Y466 KDM1A Homo sapiens O60341
H1-H2 MS
36321378
Intra
NR2E1 Q9Y466 KDM1A Homo sapiens O60341
Anti Bait CoIP
28420882
Cross: Cross-species interaction Intra: Intraspecies interaction

NR2E1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82903 NR2E1 Antibody (YA2648) WB Human, Mouse, Rat

Related Diseases

Diseases Alias
Enhanced S-Cone Syndrome

  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-135572 TLX agonist 1 Modulator 99.94% Unkown
HY-180403 TLX agonist 3 Agonist / Unkown
HY-RS09539 NR2E1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus NR2E1 VGNC VGNC:68550
Bos taurus NR2E1 VGNC VGNC:32238
Macaca mulatta NR2E1 VGNC VGNC:75510
Canis familiaris NR2E1 VGNC VGNC:43949
Mus musculus NR2E1 MGD MGI:1100526
Rattus norvegicus NR2E1 RGD RGD:1595162
Others NR2E1 NCBI