Nr2e3 MGI Mouse Gene Detail - MGI:1346317 - nuclear receptor subfamily 2, group E, member 3

Nr2e3 Gene Detail

Symbol

Nr2e3
Name

nuclear receptor subfamily 2, group E, member 3
Synonyms

photoreceptor-specific nuclear receptor, Pnr, RNR

Feature Type

protein coding gene
IDs

MGI:1346317
NCBI Gene: 23958

Sequence Map

Chr9:59942771-59960659 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

17889 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 32.35 cM
Mapping Data

8 experiments

Human Ortholog

NR2E3, nuclear receptor subfamily 2 group E member 3

Vertebrate Orthologs

9

Human Ortholog

NR2E3, nuclear receptor subfamily 2 group E member 3
Orthology source: HomoloGene, HGNC
Synonyms

ESCS, PNR, rd7, RNR, RP37
Links

HGNC:7974

NCBI Gene ID: 10002

neXtProt AC: NX_Q9Y5X4

UniProt: Q9Y5X4
Chr Location

15q23; chr15:71810548-71818259 (+) GRCh38.p7

HomoloGene

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

human homology predictions: NR2E3
Protein SuperFamily

retinoic X receptor-like nuclear receptor
Gene Tree

Nr2e3

Diseases

2 with human NR2E3 associations

				Human Disease	Mouse Models
				enhanced S-cone syndrome IDs enhanced S-cone syndrome DOID:0090059 OMIM:268100
				retinitis pigmentosa 37 IDs retinitis pigmentosa 37 DOID:0110399 ICD10CM:H35.5 OMIM:611131

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotypes from 2 alleles in 3 genetic backgrounds
2 images
25 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

2
Spontaneous

1
Targeted

1
Find Mice (IMSR)

13 strains or lines available

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

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All GO Annotations

24
GO References

6

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

191
Tissues

166
cDNA Data

49
Literature Summary

25

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN nr2e3

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

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All Sequences

44
RefSeq

8
UniProt

2
CCDS

CCDS23255.1
UniGene

103641

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

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SNPs within 2kb

161 from dbSNP Build 142

RFLP

2

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UniProt

2 Sequences
Protein Ontology

PR:000011403 photoreceptor-specific nuclear receptor

(term hierarchy)
InterPro Domains

IPR001723 Nuclear hormone receptor

IPR000536 Nuclear hormone receptor, ligand-binding domain

IPR003068 Transcription factor COUP

IPR013088 Zinc finger, NHR/GATA-type

IPR001628 Zinc finger, nuclear hormone receptor-type

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All nucleic 52

cDNA 50

Primer pair 2

Microarray probesets 2

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MGI:1354383, MGI:2444464

Summaries

All 71

Developmental Gene Expression 25

Gene Ontology 6

Phenotypes 25
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:227713 Kostic C, et al., Animal modelling for inherited central vision loss. J Pathol. 2016 Jan;238(2):300-10

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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