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

    Gene ID: 10002, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:7974
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

    See NR2E3 in Genome Data Viewer
    Location:
    15q23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (71810554..71818253)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (69629504..69637203)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72102894..72110594)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene thrombospondin type 1 domain containing 4 Neighboring gene uncharacterized LOC107984716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6615 Neighboring gene Sharpr-MPRA regulatory region 7020 Neighboring gene Sharpr-MPRA regulatory region 14876 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:71947880-71949079 Neighboring gene THSD4 antisense RNA 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:72053567-72054766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9705 Neighboring gene Sharpr-MPRA regulatory region 1602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9709 Neighboring gene RNA, 5S ribosomal pseudogene 399 Neighboring gene myosin IXA Neighboring gene uncharacterized LOC107984713

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Enhanced S-cone syndrome
    MedGen: C1849394 OMIM: 268100 GeneReviews: Not available
    not available
    Retinitis pigmentosa 37 not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC49976

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye photoreceptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phototransduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in steroid hormone receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    photoreceptor-specific nuclear receptor
    Names
    retina-specific nuclear receptor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5000..12699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014249.4NP_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
      B6ZGU0, Q9UHM4, Q9Y5X4
      UniProtKB/TrEMBL
      A0A0F6T557
      Related
      ENSP00000482504.1, ENST00000617575.5
      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_016346.4NP_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/TrEMBL
      A0A0F6T557, F1D8Q9
      Related
      ENSP00000479962.1, ENST00000621098.1
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      71810554..71818253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      69629504..69637203
      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.