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RD3 retinal degeneration 3, GUCY2D regulator [ Homo sapiens (human) ]

Gene ID: 343035, updated on 26-Mar-2020

Summary

Official Symbol
RD3provided by HGNC
Official Full Name
retinal degeneration 3, GUCY2D regulatorprovided by HGNC
Primary source
HGNC:HGNC:19689
See related
Ensembl:ENSG00000198570 MIM:180040
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

Genomic context

See RD3 in Genome Data Viewer
Location:
1q32.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (211476522..211492917, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (211649864..211666259, 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 actin related protein 2/3 complex subunit 3 pseudogene 2 Neighboring gene uncharacterized LOC107985261 Neighboring gene uncharacterized LOC107985260 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

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
protein RD3
Names
retinal degeneration 3
retinal degeneration protein 3

NCBI Reference Sequences (RefSeq)

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
    Q7Z3Z2
    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
    Q7Z3Z2
    Related
    ENSP00000355969.4, ENST00000367002.4
    Conserved Domains (1) summary
    pfam14473
    Location:19131
    RD3; RD3 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    211476522..211492917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001151.1XP_016856640.1  protein RD3 isoform X1

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