Nr2e3 nuclear receptor subfamily 2, group E, member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nr2e3provided by MGI
Official Full Name: nuclear receptor subfamily 2, group E, member 3provided by MGI
Primary source: MGI:MGI:1346317
See related: Ensembl:ENSMUSG00000032292 AllianceGenome:MGI:1346317
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PNR; RNR; rd7; A930035N01Rik
Summary: Enables DNA-binding transcription factor activity. Acts upstream of or within several processes, including eye development; negative regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in 1st branchial arch maxillary component; early conceptus; eye; and oocyte. Used to study enhanced S-cone syndrome. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. Orthologous to human NR2E3 (nuclear receptor subfamily 2 group E member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 9 B; 9 32.35 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (59850054..59868117, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (59942771..59960834, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Title: Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
In vivo analysis of onset and progression of retinal degeneration in the Nr2e3(rd7/rd7) mouse model of enhanced S-cone sensitivity syndrome.
Title: In vivo analysis of onset and progression of retinal degeneration in the Nr2e3(rd7/rd7) mouse model of enhanced S-cone sensitivity syndrome.
Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa.
Title: Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa.
These findings establish that NR2E3 is a critical component in p53 activation and a novel susceptibility factor to drug- or toxicant-induced acute liver injuries.
Title: NR2E3 is a key component in p53 activation by regulating a long noncoding RNA DINO in acute liver injuries.
The Tvrm222 modifier of Nr2e3rd7/rd7 was localized to Chromosome 6 and identified as a missense mutation in the FERM domain containing 4B (Frmd4b) gene. The variant is predicted to cause the substitution of a serine residue 938 with proline (S938P)
Title: An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
Chemical compounds identified as modulators of Nr2e3 activity may be useful for the treatment of RP through their effects on expression of disease-causing mutant genes.
Title: Potential of Small Molecule-Mediated Reprogramming of Rod Photoreceptors to Treat Retinitis Pigmentosa.
NR2E3 is a novel epigenetic regulator that helps to maintain a normal epigenetic status in response to benzo(a)pyrene mediated toxic injury. NR2E3 may be a potential target for cancer prevention.
Title: Deregulation of NR2E3, an orphan nuclear receptor, by benzo(a)pyrene-induced oxidative stress is associated with histone modification status change of the estrogen receptor gene promoter.
Study presents evidence that PNR could promote ERalpha-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway.
Title: IL-13Rα2 mediates PNR-induced migration and metastasis in ERα-negative breast cancer.
Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.
Title: Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.
PNR/NR2E3 and related NRs such as TLX and COUPTFs can selectively associate with the developmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y within the RID1 and RID2 domains.
Title: A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: photoreceptor-specific nuclear receptor

Names: retina-specific nuclear receptor; retinal degeneration 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013708.4 → NP_038736.1 photoreceptor-specific nuclear receptor

See identical proteins and their annotated locations for NP_038736.1

Status: VALIDATED

Source sequence(s)

AC131749

Consensus CDS

CCDS23255.1

UniProtKB/Swiss-Prot

Q9QXZ7

UniProtKB/TrEMBL

Q543C7

Related

ENSMUSP00000034831.3, ENSMUST00000034831.3

Conserved Domains (2) summary

cd06950
Location:185 → 382

NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors

cd06970
Location:32 → 123

NR_DBD_PNR; DNA-binding domain of the photoreceptor cell-specific nuclear receptor (PNR) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

59850054..59868117 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011242742.1 → XP_011241044.1 photoreceptor-specific nuclear receptor isoform X1

See identical proteins and their annotated locations for XP_011241044.1

Conserved Domains (2) summary

cd06950
Location:113 → 310

NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors

cl02596
Location:3 → 51

NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
XM_006511149.4 → XP_006511212.1 photoreceptor-specific nuclear receptor isoform X1

See identical proteins and their annotated locations for XP_006511212.1

Related

ENSMUST00000128060.8

Conserved Domains (2) summary

cd06950
Location:113 → 310

NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors

cl02596
Location:3 → 51

NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
XM_006511150.4 → XP_006511213.1 photoreceptor-specific nuclear receptor isoform X2

Conserved Domains (2) summary

cd06950
Location:104 → 301

NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors

cl02596
Location:1 → 42

NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers