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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NR2E3 Gene

protein-coding GIFtS: 60
GCID: GC15P072084

nuclear receptor subfamily 2, group E, member 3

Explore 30 diseases affiliated with
NR2E3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 2, Group E, Member 3¹ ²		RNR² ³
PNR¹ ² ³ ⁵		ESCS² ⁵
RP37¹ ² ⁵		Photoreceptor Cell-Specific Nuclear Receptor Variant 1²
Rd7¹		Photoreceptor-Specific Nuclear Receptor²
Retina-Specific Nuclear Receptor² ³		Nuclear Receptor Subfamily 2 Group E Member 3³

External Ids:	HGNC: 7974¹	Entrez Gene: 10002²	Ensembl: ENSG00000031544⁷	OMIM: 604485⁵	UniProtKB: Q9Y5X4³

Export aliases for NR2E3 gene to outside databases

Previous GC identifers: GC15P067898 GC15P065200 GC15P069660 GC15P069818 GC15P069889 GC15P072102 GC15P048933

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NR2E3:

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)

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4

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 Wiki entry for NR2E3 (Photoreceptor cell-specific nuclear receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NR2E3 gene promoter:
STAT1 STAT1beta CUTL1 STAT5A STAT1alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NR2E3 promoter sequence

Search SABiosciences Chromatin IP Primers for NR2E3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR2E3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q22.32 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q23

NR2E3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR2E3 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P072084: view genomic region (about GC identifiers)

Start:	72,084,977 bp from pter	End:	72,110,600 bp from pter
Size:	25,624 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4 (See protein sequence)

Recommended Name: Photoreceptor-specific nuclear receptor

Size: 410 amino acids; 44692 Da

Subunit: 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

Subcellular location: Nucleus

Secondary accessions: Q9UHM4

Alternative splicing: 2 isoforms: Q9Y5X4-1 Q9Y5X4-2

Explore the universe of human proteins at neXtProt for NR2E3: NX_Q9Y5X4

Post-translational modifications:

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)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y5X4

NR2E3 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (2 alternative transcripts):

NP_055064.1 NP_057430.1

Reactome Protein details: Q9Y5X4
Human Recombinant Protein Products for NR2E3:

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	Novus Biologicals NR2E3 Protein Novus Biologicals NR2E3 Lysates
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	Uscn Proteins for NR2E3

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	10220376
GO:0005654	nucleoplasm	TAS	--

NR2E3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NR2E3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NR2E3 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR013088 Znf_NHR/GATA

IPR008946 Nucl_hormone_rcpt_ligand-bd

IPR000536 Nucl_hrmn_rcpt_lig-bd_core

IPR001628 Znf_hrmn_rcpt

IPR000003 Retinoid-X_rcpt/HNF4

Graphical View of Domain Structure for InterPro Entry Q9Y5X4

ProtoNet protein and cluster: Q9Y5X4

2 Blocks protein families:

IPB000003 Retinoic acid receptor signature

IPB001723 Steroid hormone receptor signature

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4

Similarity: Belongs to the nuclear hormone receptor family. NR2 subfamily

Similarity: Contains 1 nuclear receptor DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NR2E3_HUMAN, Q9Y5X4

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

Genatlas biochemistry entry for NR2E3:

nuclear receptor superfamily 2,group E,member 3,homolog to TLX receptor,orphan receptor family

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003707	steroid hormone receptor activity	IEA	--
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	TAS	10220376
GO:0008270	zinc ion binding	IEA	--
GO:0043565	sequence-specific DNA binding	IEA	--

NR2E3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for NR2E3:

Increased cell death HMECs cel

3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nr2e3):

cellular

nervous system

vision/eye

NR2E3 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Nr2e3^tm1Dgen for NR2E3

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NR2E3

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		hsa-miR-320a hsa-miR-320b hsa-miR-320d
		SwitchGear 3'UTR luciferase reporter plasmid: NR2E3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NR2E3 (see all 4) OriGene shRNA RFP: NR2E3 OriGene siRNA: NR2E3
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Generic Transcription Pathway

Generic Transcription Pathway

1.00

Gene Expression

0.46

Nuclear Receptor transcription pathway

Nuclear Receptor transcription pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for NR2E3

	Generic Transcription Pathway
	Nuclear Receptor transcription pathway
	Gene Expression

NR2E3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NR2E3

5/28 Interacting proteins for NR2E3 (Q9Y5X4^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DHX30	Q7L2E3²^,³	MINT-4302975 MINT-4303674 MINT-4302998 MINT-4302946 MINT-4303427 I2D: score=3
CDK9	P50750²^,³	MINT-4303827 MINT-4303537 MINT-4303916 MINT-4303806 I2D: score=3
HDAC1	Q13547²^,³	MINT-4303486 MINT-4303763 I2D: score=3
HDAC3	O15379²^,³	MINT-4303499 MINT-4303774 I2D: score=3
MYBBP1A	Q9BQG0²^,³	MINT-4303589 MINT-4303550 I2D: score=3

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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
GO:0007601	visual perception	IEA	--
GO:0007602	phototransduction	TAS	10220376

NR2E3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NR2E3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NR2E3
10/27 Novoseek chemical compound relationships for NR2E3 gene (see all 27) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-aminopyridine-2-carboxaldehyde thiosemicarbazone	89.4	5	15096505 (1), 19929413 (1), 20198185 (1), 17324380 (1)
2'-azido-2'-deoxyuridine 5'-diphosphate	86.9	1	15276078 (1)
dcdp	84.3	1	12939135 (1)
parathion	70.9	7	12221087 (2), 17188250 (1), 19291372 (1), 11904430 (1) (see all 6)
dgtp	70	1	15096505 (1)
endor	62.6	2	10341127 (1), 15721607 (1)
deoxycytidine	56.5	5	9773810 (2), 17324380 (1), 17636467 (1)
gemcitabine	52	17	17324380 (4), 20436341 (2), 17636467 (2), 19899807 (1) (see all 5)
ribose	43.6	1	11796141 (1)
thymidylate	42.9	7	11527696 (2), 17192711 (2), 12552952 (1), 18230555 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about NR2E3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NR2E3 gene (2 alternative transcripts):

NM_014249.2 NM_016346.2

Unigene Cluster for NR2E3:

Nuclear receptor subfamily 2, group E, member 3

Hs.187354 [show with all ESTs]

Unigene Representative Sequence: BX538301

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000561604 ENST00000567496(uc002ati.3) ENST00000562839 ENST00000562925

ENST00000398840(uc002ath.1) ENST00000326995

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NR2E3
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		hsa-miR-320a hsa-miR-320b hsa-miR-320d
		SwitchGear 3'UTR luciferase reporter plasmid: NR2E3 3' UTR sequence

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Additional cDNA sequence:

AB307710.1 AF121129.1 AF148128.1 BC041421.1 BX538301.1 HQ692847.1

5 DOTS entries:

DT.97770975 DT.97836583 DT.92024699 DT.121075823 DT.97801085

24/30 AceView cDNA sequences (see all 30):

BU729980 AI591043 NM_016346 NM_014249 BX490985 BM715243 BX490986 BM704071

BM704483 BX538301 BX491352 BC041421 AL711747 AF148128 BQ639434 AW080977

BX954811 BU732726 AF121129 AL711722 BM709352 AI444836 BX490978 BU736653

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NR2E3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGCCCTCT

About this image

NR2E3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Rod Precursor Cells

Selective marker (cell-identifying gene)

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for NR2E3

SOURCE GeneReport for Unigene cluster: Hs.187354

UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4

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

SABiosciences Expression via Pathway-Focused PCR Arrays including NR2E3:

Neurogenesis in human mouse rat

Nuclear Receptors & Coregulators in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2E3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NR2E3 gene from 4/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Nr2e3^{1 , 5}	nuclear receptor subfamily 2, group E, member 3^{1, 5}	84.43(n)¹ 90.61(a)¹	9 (32.35 cM)⁵ 23958¹ NM_013708.4¹ NP_038736.1¹ 59942771⁵
chicken (Gallus gallus)	Aves	NR2E3¹	nuclear receptor subfamily 2, group E, member 3	73.98(n) 74.15(a)	395289 NM_204594.1 NP_989925.1
zebrafish (Danio rerio)	Actinopterygii	nr2e3¹	nuclear receptor subfamily 2, group E, member 3	63.54(n) 68.61(a)	492496 NM_001007368.1 NP_001007369.1
fruit fly (Drosophila melanogaster)	Insecta	dsf³ Hr51¹	male courtship behavior transcription factor³ Hormone receptor 51¹	50(a) (best of 2)³ 58.65(n)¹ 57.03(a)¹	36702¹ NM_137188.2¹ NP_611032.2¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894493^1,2	C	pathogenic	53447616(+)	`CGTACG/AGCGGA`	4	/Q /R	mis¹		1		EU	400
rs753074^1,2	C,F,A	--	48931559(-)	`CCACCG/AGGCTG`	2	--	us2k¹		7		MN NA WA	430
rs76103528^1,2		--	48931810(+)	`GGTCTC/GCTGGG`	2	--	us2k¹		0	--	--	--	--
rs76608846^1,2		--	48931971(+)	`CTGCAA/CACACC`	2	--	us2k¹		0	--	--	--	--
rs3759816^1,2	C,F	--	48932168(+)	`TGAACC/TTGGGT`	2	--	us2k¹		1		EA	120
rs113924563^1,2	C	--	48932254(+)	`CCTTCC/TCTCTC`	2	--	us2k¹		2		CSA WA	120
rs73432491^1,2	C,F	--	48932509(+)	`AGACCC/TTCCAG`	2	--	us2k¹		4		WA CSA	124
rs9920876^1,2	C	--	48932904(+)	`agaccG/Agcctg`	2	--	us2k¹		2		WA CSA	3
rs8036350^1,2	C,H	--	48933256(+)	`GGACTG/AACCGG`	2	--	us2k¹		6		NS EA NA	420
rs112520386^1,2	C,F	--	48934688(+)	`GAGGCG/AGGGGC`	2	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for NR2E3 (72084977 - 72110600 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NR2E3: --
Human Gene Mutation Database (HGMD): NR2E3

Locus Specific Mutation Databases (LSDB): NR2E3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NR2E3 for disorders           About GeneDecksing

OMIM gene information: 604485
OMIM disorders: 268100  611131
UniProtKB/Swiss-Prot: NR2E3_HUMAN, Q9Y5X4

Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS) [MIM:268100]. ESCS is an 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

Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37) [MIM:611131]. RP leads to degeneration

of retinal photoreceptor cells. 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. RP37

inheritance is autosomal dominant

20/30 diseases for NR2E3 (see all 30): About MalaCards

enhanced s-cone syndrome goldmann-favre syndrome retinitis pigmentosa-37 retinitis

accommodative esotropia night blindness retinitis pigmentosa achromatopsia

causalgia retinal degeneration esotropia blindness

fanconi's anemia colon carcinoma retinoblastoma anemia

retinal disease hepatocellular carcinoma cervical cancer cervicitis

4 diseases from the University of Copenhagen DISEASES database for NR2E3:

Retinal degeneration Night blindness Accommodative esotropia Achromatopsia

10/15 Novoseek disease relationships for NR2E3 gene (see all 15) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
enhanced s-cone syndrome	96.4	15	17601449 (2), 15453866 (2), 17438525 (2), 19933183 (1) (see all 9)
night blindness	66.8	1	19139342 (1)
retinal degeneration	65.9	4	19006237 (1), 11773633 (1), 10805811 (1)
retinitis pigmentosa	58.7	5	19933183 (2), 19006237 (1), 11071390 (1)
achromatopsia	57.9	1	12187427 (1)
retinopathy	38.7	3	18294254 (2), 11725181 (1)
blindness	37.1	1	15229190 (1)
retinoblastoma	23.6	2	17277753 (1), 10220376 (1)
colon carcinoma	5.81	1	12552952 (1)
nsclc	3.05	2	17324380 (1)

Human Genome Epidemiology (HuGE) Navigator: NR2E3 (4 documents)

Export disorders for NR2E3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NR2E3 gene, integrated from 9 sources (see all 145):
(articles sorted by number of sources associating them with NR2E3)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a photoreceptor cell-specific nuclear receptor. (PubMed id 10220376)^{1, 2, 3, 9} Kobayashi M.... Umesono K. (1999)
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. (PubMed id 15689355)^{1, 2, 9} Peng G.H....Chen S. (2005)
Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells. (PubMed id 10611353)^{1, 2, 9} Chen F.... Austin C.P. (1999)
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. (PubMed id 19006237)^{1, 2, 9} Escher P.... Schorderet D.F. (2009)
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. (PubMed id 16225923)^{1, 2, 9} Hayashi T....Kitahara K. (2005)
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (PubMed id 10655056)^{1, 2, 9} Haider N.B.... Sheffield V.C. (2000)
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. (PubMed id 18294254)^{1, 2, 9} Bernal S....Baiget M. (2008)
Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. (PubMed id 15459973)^{1, 2, 9} Wright A.F....Swaroop A. (2004)
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. (PubMed id 11071390)^{1, 2, 9} Gerber S.... Kaplan J. (2000)
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. (PubMed id 17564971)^{1, 2} Coppieters F.... De Baere E. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10002	HGNC: 7974	AceView: NR2E3	Ensembl:ENSG00000031544	euGenes: HUgn10002
ECgene: NR2E3	H-InvDB: NR2E3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NR2E3	Pharmacogenomics, SNPs, Pathways
Mutations of the NR2E3 gene	http://www.retina-international.org/files/sci-news/nr2e3mut.htm

Intellectual Property for NR2E3 gene
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Patent Information for NR2E3 gene:
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nuclear receptor subfamily 2, group E, member 3

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NR2E3 Gene

nuclear receptor subfamily 2, group E, member 3

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