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Aliases for NR2E3 Gene

Aliases for NR2E3 Gene

  • Nuclear Receptor Subfamily 2, Group E, Member 3 2 3
  • PNR 3 4 6
  • Retina-Specific Nuclear Receptor 3 4
  • ESCS 3 6
  • RP37 3 6
  • RNR 3 4
  • Nuclear Receptor Subfamily 2 Group E Member 3 4
  • Photoreceptor-Specific Nuclear Receptor 3
  • Rd7 3

External Ids for NR2E3 Gene

Summaries for NR2E3 Gene

Entrez Gene Summary for NR2E3 Gene

  • This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for NR2E3 Gene

NR2E3 (Nuclear Receptor Subfamily 2, Group E, Member 3) is a Protein Coding gene. Diseases associated with NR2E3 include retinitis pigmentosa 37 and goldmann-favre syndrome. Among its related pathways are Gene Expression and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding and ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity.

UniProtKB/Swiss-Prot for NR2E3 Gene

  • Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.

Gene Wiki entry for NR2E3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR2E3 Gene

Genomics for NR2E3 Gene

Genomic Location for NR2E3 Gene

Start:
71,792,638 bp from pter
End:
71,818,259 bp from pter
Size:
25,622 bases
Orientation:
Plus strand

Genomic View for NR2E3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR2E3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR2E3 Gene

Regulatory Elements for NR2E3 Gene

Proteins for NR2E3 Gene

  • Protein details for NR2E3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5X4-NR2E3_HUMAN
    Recommended name:
    Photoreceptor-specific nuclear receptor
    Protein Accession:
    Q9Y5X4
    Secondary Accessions:
    • B6ZGU0
    • Q9UHM4

    Protein attributes for NR2E3 Gene

    Size:
    410 amino acids
    Molecular mass:
    44692 Da
    Quaternary structure:
    • Homodimer. Interacts with PIAS3; the interaction sumoylates NR2E3 and promotes repression of cone-specific gene transcription and activation of rod-specific genes (By similarity). Component of a complex that includes NR2E3, PIAS3, NRL, CRX and/or NR1D1. Binds NR1D1. Binds direcly in the complex with CRX, PIAS3 and NR1D1 (By similarity). Interacts (via the DNA-binding domain) with CRX (via its DNA binding domain); the interaction represses S- and M-cone opsin expression.

    Three dimensional structures from OCA and Proteopedia for NR2E3 Gene

    Alternative splice isoforms for NR2E3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR2E3 Gene

Proteomics data for NR2E3 Gene at MOPED

Post-translational modifications for NR2E3 Gene

  • Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR2E3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NR2E3 Gene

Domains for NR2E3 Gene

Gene Families for NR2E3 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

NR2E3_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • Q9Y5X4
Family:
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.:
    • Q9Y5X4
genes like me logo Genes that share domains with NR2E3: view

Function for NR2E3 Gene

Molecular function for NR2E3 Gene

GENATLAS Biochemistry: nuclear receptor superfamily 2,group E,member 3,homolog to TLX receptor,orphan receptor family
UniProtKB/Swiss-Prot Function: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.

Gene Ontology (GO) - Molecular Function for NR2E3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity --
GO:0003707 steroid hormone receptor activity IEA --
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS 10220376
GO:0005515 protein binding IPI --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with NR2E3: view

Phenotypes for NR2E3 Gene

MGI mutant phenotypes for NR2E3:
inferred from 2 alleles
GenomeRNAi human phenotypes for NR2E3:
genes like me logo Genes that share phenotypes with NR2E3: view

Animal Models for NR2E3 Gene

MGI Knock Outs for NR2E3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for NR2E3 Gene

Localization for NR2E3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR2E3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR2E3 Gene COMPARTMENTS Subcellular localization image for NR2E3 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NR2E3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10220376
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with NR2E3: view

Pathways for NR2E3 Gene

genes like me logo Genes that share pathways with NR2E3: view

Pathways by source for NR2E3 Gene

Gene Ontology (GO) - Biological Process for NR2E3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006366 transcription from RNA polymerase II promoter TAS 10220376
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007165 signal transduction TAS 10220376
genes like me logo Genes that share ontologies with NR2E3: view

Compounds for NR2E3 Gene

(27) Novoseek inferred chemical compound relationships for NR2E3 Gene

Compound -log(P) Hits PubMed IDs
3-aminopyridine-2-carboxaldehyde thiosemicarbazone 89.4 4
2-azido-2-deoxyuridine 5-diphosphate 86.9 1
dcdp 84.3 1
parathion 70.9 7
dgtp 70 1
genes like me logo Genes that share compounds with NR2E3: view

Transcripts for NR2E3 Gene

Unigene Clusters for NR2E3 Gene

Nuclear receptor subfamily 2, group E, member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NR2E3 Gene

No ASD Table

Relevant External Links for NR2E3 Gene

GeneLoc Exon Structure for
NR2E3
ECgene alternative splicing isoforms for
NR2E3

Expression for NR2E3 Gene

mRNA expression in normal human tissues for NR2E3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR2E3 Gene

This gene is overexpressed in Cervix - Endocervix (5.9), Prostate (5.4), and Testis (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for NR2E3 Gene

SOURCE GeneReport for Unigene cluster for NR2E3 Gene Hs.187354

mRNA Expression by UniProt/SwissProt for NR2E3 Gene

Q9Y5X4-NR2E3_HUMAN
Tissue specificity: Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.
genes like me logo Genes that share expressions with NR2E3: view

Orthologs for NR2E3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR2E3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR2E3 36
  • 99.34 (n)
  • 98.76 (a)
cow
(Bos Taurus)
Mammalia NR2E3 36
  • 90.24 (n)
  • 92.23 (a)
mouse
(Mus musculus)
Mammalia Nr2e3 36
  • 84.01 (n)
  • 90.1 (a)
Nr2e3 16
rat
(Rattus norvegicus)
Mammalia LOC100365683 36
  • 82.59 (n)
  • 86.69 (a)
chicken
(Gallus gallus)
Aves NR2E3 36
  • 75.36 (n)
  • 75.54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2e3 36
  • 68.57 (n)
  • 72.48 (a)
zebrafish
(Danio rerio)
Actinopterygii nr2e3 36
  • 66.11 (n)
  • 72.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hr51 36
  • 63.73 (n)
  • 63.84 (a)
dsf 38
  • 50 (a)
CG16801 38
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea fax-1 38
  • 38 (a)
Species with no ortholog for NR2E3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR2E3 Gene

ENSEMBL:
Gene Tree for NR2E3 (if available)
TreeFam:
Gene Tree for NR2E3 (if available)

Paralogs for NR2E3 Gene

Selected SIMAP similar genes for NR2E3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NR2E3: view

No data available for Paralogs for NR2E3 Gene

Variants for NR2E3 Gene

Sequence variations from dbSNP and Humsavar for NR2E3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs753074 -- 71,808,747(-) CCACC(A/G)GGCTG upstream-variant-2KB
rs900544 -- 71,809,541(+) GCGGA(C/G)GTGTG upstream-variant-2KB
rs900546 -- 71,811,853(+) CAGGC(A/G/T)GGGAT synonymous-codon, reference
rs900547 -- 71,811,876(+) TGAGG(C/T)GGGGG intron-variant
rs1805020 Benign, - 71,812,024(+) CACTG(A/G)GTCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NR2E3 Gene

Variant ID Type Subtype PubMed ID
nsv904334 CNV Gain 21882294
nsv827383 CNV Loss 20364138

Relevant External Links for NR2E3 Gene

HapMap Linkage Disequilibrium report
NR2E3
Human Gene Mutation Database (HGMD)
NR2E3
Locus Specific Mutation Databases (LSDB)
NR2E3

Disorders for NR2E3 Gene

(2) OMIM Diseases for NR2E3 Gene (604485)

UniProtKB/Swiss-Prot

NR2E3_HUMAN
  • Enhanced S cone syndrome (ESCS) [MIM:268100]: Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. {ECO:0000269 PubMed:10655056, ECO:0000269 PubMed:11071390, ECO:0000269 PubMed:12963616, ECO:0000269 PubMed:15459973, ECO:0000269 PubMed:16225923, ECO:0000269 PubMed:18294254, ECO:0000269 PubMed:19006237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 37 (RP37) [MIM:611131]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:17564971, ECO:0000269 PubMed:19006237}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for NR2E3 Gene

(15) Novoseek inferred disease relationships for NR2E3 Gene

Disease -log(P) Hits PubMed IDs
enhanced s-cone syndrome 96.4 12
night blindness 66.8 1
retinal degeneration 65.9 3
retinitis pigmentosa 58.7 4
achromatopsia 57.9 1

Relevant External Links for NR2E3

Genetic Association Database (GAD)
NR2E3
Human Genome Epidemiology (HuGE) Navigator
NR2E3
genes like me logo Genes that share disorders with NR2E3: view

Publications for NR2E3 Gene

  1. Identification of a photoreceptor cell-specific nuclear receptor. (PMID: 10220376) Kobayashi M. … Umesono K. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. (PMID: 15689355) Peng G.H. … Chen S. (Hum. Mol. Genet. 2005) 3 4 23
  3. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. (PMID: 18294254) Bernal S. … Baiget M. (Clin. Genet. 2008) 3 4 23
  4. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (PMID: 16225923) Hayashi T. … Kitahara K. (Ophthalmology 2005) 3 4 23
  5. Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells. (PMID: 10611353) Chen F. … Austin C.P. (Proc. Natl. Acad. Sci. U.S.A. 1999) 3 4 23

Products for NR2E3 Gene

Sources for NR2E3 Gene

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