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

    Gene ID: 10002, updated on 20-Apr-2017
    Official Symbol
    NR2E3provided by HGNC
    Official Full Name
    nuclear receptor subfamily 2 group E member 3provided by HGNC
    Primary source
    HGNC:HGNC:7974
    See related
    Ensembl:ENSG00000278570 MIM:604485; Vega:OTTHUMG00000172841
    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]
    Orthologs
    Location:
    15q23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 1 domain containing 4 Neighboring gene uncharacterized LOC107984716 Neighboring gene THSD4 antisense RNA 2 Neighboring gene RNA, 5S ribosomal pseudogene 399 Neighboring gene myosin IXA Neighboring gene uncharacterized LOC107984713

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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 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

    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    photoreceptor-specific nuclear receptor
    Names
    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_009113.2 RefSeqGene

      Range
      4994..12705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for 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
      ENSP00000482504.1, OTTHUMP00000276341, ENST00000617575.4, OTTHUMT00000420821
      Conserved Domains (2) summary
      cd06950
      Location:192397
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd06970
      Location:39130
      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 identical proteins and their annotated locations for 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/Swiss-Prot
      Q9Y5X4
      UniProtKB/TrEMBL
      F1D8Q9
      Related
      ENSP00000479962.1, OTTHUMP00000276342, ENST00000621098.1, OTTHUMT00000420822
      Conserved Domains (2) summary
      cd06950
      Location:192367
      NR_LBD_Tlx_PNR_like; The ligand binding domain of Tailless-like proteins, orphan nuclear receptors
      cd06970
      Location:39130
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      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.
    Support Center