Nr2e3
Gene Detail

Symbol

Name
ID

Nr2e3
nuclear receptor subfamily 2, group E, member 3
MGI:1346317

Synonyms

photoreceptor-specific nuclear receptor, Pnr, RNR

Feature Type

protein coding gene

Genetic Map

Chromosome 9
32.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

Chr9:59942771-59960659 bp, - strand From VEGA annotation of GRCm38   17889 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:84397  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: retinoic X receptor-like nuclear receptor
Gene Tree: Nr2e3

Human
homologs

Human Homolog		NR2E3, nuclear receptor subfamily 2, group E, member 3
NCBI Gene ID		10002
neXtProt AC		NX_Q9Y5X4
Human Synonyms		ESCS, PNR, rd7, RNR, RP37
Human Chr (Location)		15q23; chr15:71810548-71818259 (+)  GRCh38
Disease Associations		(2) Diseases Associated with Human NR2E3

Mutations,
alleles, and
phenotypes

All mutations/alleles(2) : Spontaneous(1) Targeted(1)
 

Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer.

 
Human Diseases Modeled in Mice Using Nr2e3 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(2)

Interactions

Nr2e3 interacts with 107 markers (Mir17, Mir18, Mir18b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (21 annotations)

Process	eye photoreceptor cell development, negative regulation of cell proliferation, ...
Component	nucleus, transcription factor complex
Function	DNA binding, ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (25 records)

Data Summary: Results (175)    Tissues (162)    Images (36)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	1
RNA in situ	156
Western blot	3
RT-PCR	15

cDNA source data(49)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(52) cDNA(50) Primer pair(2)
Microarray probesets(2)

Other database
links

VEGA Gene Model	OTTMUSG00000023008 (Evidence)
Ensembl Gene Model	ENSMUSG00000032292 (Evidence)
Entrez Gene	23958 (Evidence)
UniGene	103641
DFCI	TC1632168, TC1581983, TC1622013, TC1612808, TC1601332
DoTS	DT.87056518, DT.101731660, DT.101349738, DT.101302896, DT.97411780, DT.91318774
NIA Mouse Gene Index	U030954
Consensus CDS Project	CCDS23255.1
International Mouse Knockout Project Status	Nr2e3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023008	VEGA Gene Model | MGI Sequence Detail	17889	C57BL/6J
transcript	OTTMUST00000055414	VEGA | MGI Sequence Detail	2037	Not Applicable
polypeptide	OTTMUSP00000026535	VEGA | MGI Sequence Detail	395	Not Applicable

All sequences(57) RefSeq(8) UniProt(3)

Polymorphisms

RFLP(2) : SNPs within 2kb(172 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
InterPro	IPR008946	Nuclear hormone receptor, ligand-binding
InterPro	IPR000536	Nuclear hormone receptor, ligand-binding, core
InterPro	IPR001723	Steroid hormone receptor
InterPro	IPR003068	Transcription factor COUP
InterPro	IPR013088	Zinc finger, NHR/GATA-type
InterPro	IPR001628	Zinc finger, nuclear hormone receptor-type
Protein Ontology	PR:000011403	photoreceptor-specific nuclear receptor

References

(Earliest) J:55816 Chang B, et al., A new mouse model of retinal dysplasia and degeneration (rd7). Invest Ophthalmol Vis Sci. 1998;39(4):S880 (Abstr.)
(Latest) J:212853 Cruz NM, et al., Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease. PLoS One. 2014;9(1):e87942
All references(72)
Disease annotation references (3)

Other
accession IDs

MGI:1354383, MGI:2444464