NR2E1 - nuclear receptor subfamily 2 group E member 1 Gene

Homo sapiens

Also known as TLL; TLX; XTLL

Gene ID: 7101 | Gene type: protein coding

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

NR2E1 Protein Structure

zf-C4

Hormone_recep

0
100
200
300
385 a.a.

Protein Preferred Names

Protein Names

nuclear receptor subfamily 2 group E member 1

nuclear receptor TLX

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

Bioactive Molecules (2)

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

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