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NR2E3 nuclear receptor subfamily 2, group E, member 3 [ Homo sapiens (human) ]

Gene ID: 10002, updated on 26-Aug-2014
Official Symbol
NR2E3provided by HGNC
Official Full Name
nuclear receptor subfamily 2, group E, member 3provided by HGNC
Primary source
HGNC:7974
See related
Ensembl:ENSG00000278570; HPRD:05132; MIM:604485
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PNR; RNR; rd7; ESCS; RP37
Summary
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]
See NR2E3 in Epigenomics, MapViewer
Location:
15q23
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 15 NC_000015.10 (71810548..71818259)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72102888..72110600)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene thrombospondin, type I, domain containing 4 Neighboring gene ribosomal protein L17 pseudogene 39 Neighboring gene uncharacterized LOC101929173 Neighboring gene myosin IXA Neighboring gene eukaryotic translation initiation factor 5A2 pseudogene Neighboring gene ribosomal protein L21 pseudogene 115 Neighboring gene SUMO/sentrin specific peptidase family member 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Enhanced s-cone syndrome
MedGen: C1849394 OMIM: 268100 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 37
MedGen: C1970163 OMIM: 611131 GeneReviews: Retinitis Pigmentosa Overview
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC49976

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
gene expression TAS
Traceable Author Statement
more info
 
intracellular receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
phototransduction TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
photoreceptor-specific nuclear receptor
Names
photoreceptor-specific nuclear receptor
retina-specific nuclear receptor

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.

Genomic

  1. NG_009113.1 

    Range
    4995..12706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014249.3NP_055064.1  photoreceptor-specific nuclear receptor isoform b

    See proteins identical to NP_055064.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) contains a longer C-terminus compared to isoform a.
    Source sequence(s)
    AF121129, AL711747, AW080977, BU732726
    Consensus CDS
    CCDS73750.1
    UniProtKB/Swiss-Prot
    Q9Y5X4
    Related
    ENSP00000482504, ENST00000617575
    Conserved Domains (2) summary
    cd06950
    Location:192397
    Blast Score: 848
    NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
    cd06970
    Location:39130
    Blast Score: 525
    NR_DBD_PNR; DNA-binding domain of the photoreceptor cell-specific nuclear receptor (PNR) is composed of two C4-type zinc fingers
  2. NM_016346.3NP_057430.1  photoreceptor-specific nuclear receptor isoform a

    See proteins identical to NP_057430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.
    Source sequence(s)
    AC104938, AF148128, KF495720
    Consensus CDS
    CCDS73751.1
    UniProtKB/TrEMBL
    F1D8Q9
    UniProtKB/Swiss-Prot
    Q9Y5X4
    Related
    ENSP00000479962, ENST00000621098
    Conserved Domains (2) summary
    cd06950
    Location:192367
    Blast Score: 726
    NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
    cd06970
    Location:39130
    Blast Score: 520
    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: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

    Range
    71810548..71818259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    48933359..48941065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    72221027..72228738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001281446.1: Suppressed sequence

    Description
    NM_001281446.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.