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    RD3 RD3 regulator of GUCY2D [ Homo sapiens (human) ]

    Gene ID: 343035, updated on 9-Dec-2024

    Summary

    Official Symbol
    RD3provided by HGNC
    Official Full Name
    RD3 regulator of GUCY2Dprovided by HGNC
    Primary source
    HGNC:HGNC:19689
    See related
    Ensembl:ENSG00000198570 MIM:180040; AllianceGenome:HGNC:19689
    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
    LCA12; C1orf36
    Summary
    This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RD3 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (211476522..211492162, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (210722616..210738242, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (211649864..211665504, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 467 Neighboring gene sorting nexin 25 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:211612887-211613110 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2487 Neighboring gene uncharacterized LOC107985261 Neighboring gene uncharacterized LOC107985260 Neighboring gene MPRA-validated peak683 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:211711705-211712205 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:211721978-211722385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1788 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:211751675-211752176 and GRCh37_chr1:211752177-211752676 Neighboring gene solute carrier family 30 member 1

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of guanylate cyclase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retina development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual perception ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cone photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in rod photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein RD3
    Names
    retinal degeneration 3, GUCY2D regulator
    retinal degeneration protein 3

    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_013042.1 RefSeqGene

      Range
      5756..21396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164688.2NP_001158160.1  protein RD3

      See identical proteins and their annotated locations for NP_001158160.1

      Status: REVIEWED

      Source sequence(s)
      AC105275
      Consensus CDS
      CCDS1498.1
      UniProtKB/Swiss-Prot
      A8K595, Q7Z3Z2
      Related
      ENSP00000505312.1, ENST00000680073.1
      Conserved Domains (1) summary
      pfam14473
      Location:19131
      RD3; RD3 protein
    2. NM_183059.3NP_898882.1  protein RD3

      See identical proteins and their annotated locations for NP_898882.1

      Status: REVIEWED

      Source sequence(s)
      AY191519, BC035651
      Consensus CDS
      CCDS1498.1
      UniProtKB/Swiss-Prot
      A8K595, Q7Z3Z2
      Related
      ENSP00000355969.4, ENST00000367002.5
      Conserved Domains (1) summary
      pfam14473
      Location:19131
      RD3; RD3 protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      211476522..211492162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      210722616..210738242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)