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Aliases for RD3 Gene

Aliases for RD3 Gene

  • Retinal Degeneration 3 2 3
  • C1orf36 3 4 6
  • Retinal Degeneration Protein 3 3 4
  • LCA12 3 6
  • Chromosome 1 Open Reading Frame 36 2
  • Protein RD3 3

External Ids for RD3 Gene

Previous HGNC Symbols for RD3 Gene

  • C1orf36

Previous GeneCards Identifiers for RD3 Gene

  • GC01M209717
  • GC01M211649
  • GC01M182327

Summaries for RD3 Gene

Entrez Gene Summary for RD3 Gene

  • 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]

GeneCards Summary for RD3 Gene

RD3 (Retinal Degeneration 3) is a Protein Coding gene. Diseases associated with RD3 include leber congenital amaurosis 12 and rd3-related leber congenital amaurosis. An important paralog of this gene is RD3L.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RD3 Gene

Genomics for RD3 Gene

Regulatory Elements for RD3 Gene

Genomic Location for RD3 Gene

211,476,522 bp from pter
211,492,917 bp from pter
16,396 bases
Minus strand

Genomic View for RD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RD3 Gene

Proteins for RD3 Gene

  • Protein details for RD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein RD3
    Protein Accession:
    Secondary Accessions:
    • A8K595

    Protein attributes for RD3 Gene

    195 amino acids
    Molecular mass:
    22704 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RD3 Gene

Proteomics data for RD3 Gene at MOPED

Post-translational modifications for RD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RD3 Gene

Domains for RD3 Gene

Protein Domains for RD3 Gene


Suggested Antigen Peptide Sequences for RD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RD3: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RD3 Gene

Function for RD3 Gene

Gene Ontology (GO) - Molecular Function for RD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RD3: view

Phenotypes for RD3 Gene

genes like me logo Genes that share phenotypes with RD3: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for RD3 Gene

Localization for RD3 Gene

Subcellular locations from

Jensen Localization Image for RD3 Gene COMPARTMENTS Subcellular localization image for RD3 gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RD3 Gene

Pathways for RD3 Gene

SuperPathways for RD3 Gene

No Data Available

Interacting Proteins for RD3 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000355969 Q7Z3Z2-RD3_HUMAN for RD3 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for RD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
GO:0060041 retina development in camera-type eye IEA --
genes like me logo Genes that share ontologies with RD3: view

No data available for Pathways by source for RD3 Gene

Transcripts for RD3 Gene

Unigene Clusters for RD3 Gene

Retinal degeneration 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RD3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RD3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
SP1: -
SP2: -

Relevant External Links for RD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RD3 Gene

mRNA expression in normal human tissues for RD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RD3 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (4.4).

Protein differential expression in normal tissues for RD3 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for RD3 Gene

SOURCE GeneReport for Unigene cluster for RD3 Gene Hs.632495

mRNA Expression by UniProt/SwissProt for RD3 Gene

Tissue specificity: Preferentially expressed in retina.
genes like me logo Genes that share expressions with RD3: view

Expression partners for RD3 Gene

In Situ Assay Products

Orthologs for RD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RD3 35
  • 85.57 (n)
  • 83.51 (a)
RD3 36
  • 83 (a)
(Canis familiaris)
Mammalia RD3 35
  • 84.85 (n)
  • 87.88 (a)
RD3 36
  • 61 (a)
(Mus musculus)
Mammalia Rd3 35
  • 83.25 (n)
  • 85.64 (a)
Rd3 16
Rd3 36
  • 54 (a)
(Pan troglodytes)
Mammalia RD3 35
  • 98.46 (n)
  • 98.97 (a)
RD3 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Rd3 35
  • 84.79 (n)
  • 86.15 (a)
(Monodelphis domestica)
Mammalia RD3 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia RD3 36
  • 66 (a)
(Gallus gallus)
Aves RD3 35
  • 69.26 (n)
  • 67.88 (a)
RD3 36
  • 66 (a)
(Anolis carolinensis)
Reptilia RD3 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rd3 35
  • 64.96 (n)
  • 60.51 (a)
(Danio rerio)
Actinopterygii rd3 35
  • 62.39 (n)
  • 58.29 (a)
rd3 36
  • 51 (a)
Species with no ortholog for RD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RD3 Gene

Gene Tree for RD3 (if available)
Gene Tree for RD3 (if available)

Paralogs for RD3 Gene

Paralogs for RD3 Gene

genes like me logo Genes that share paralogs with RD3: view

Variants for RD3 Gene

Sequence variations from dbSNP and Humsavar for RD3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14148 -- 211,476,658(-) GCTAT(A/C)CCCAG utr-variant-3-prime
rs754624 -- 211,490,871(-) TGATG(A/G)GCCCT intron-variant
rs1020336 -- 211,487,674(-) TGCAG(A/G)CAGGG intron-variant
rs1122745 -- 211,489,919(+) ACCCA(C/T)GCCCG intron-variant
rs1530435 -- 211,490,484(-) GGACA(A/G)CCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RD3 Gene

Variant ID Type Subtype PubMed ID
nsv832514 CNV Loss 17160897
esv2675306 CNV Deletion 23128226
esv29853 CNV Loss 19812545

Relevant External Links for RD3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RD3 Gene

Disorders for RD3 Gene

(1) OMIM Diseases for RD3 Gene (180040)


  • Leber congenital amaurosis 12 (LCA12) [MIM:610612]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:17186464}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RD3 Gene

Relevant External Links for RD3

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with RD3: view

No data available for Novoseek inferred disease relationships and Genatlas for RD3 Gene

Publications for RD3 Gene

  1. Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. (PMID: 12914764) Lavorgna G. … Banfi S. (Biochem. Biophys. Res. Commun. 2003) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. (PMID: 17186464) Friedman J.S. … Swaroop A. (Am. J. Hum. Genet. 2006) 3 4
  4. Mutation survey of known LCA genes and loci in the Saudi Arabian population. (PMID: 18936139) Li Y. … Chen R. (Invest. Ophthalmol. Vis. Sci. 2009) 3
  5. Leber Congenital Amaurosis (PMID: 20301475) Pagon R.A. … Stephens K. ( 1993) 3

Products for RD3 Gene

Sources for RD3 Gene

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