Human Gene RD3 (uc009xda.2) Description and Page Index
  Description: Homo sapiens retinal degeneration 3 (RD3), transcript variant 2, mRNA.
RefSeq Summary (NM_001164688): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:211,649,864-211,666,259 Size: 16,396 Total Exon Count: 2 Strand: -


Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:211,649,864-211,666,259)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerH-INVHGNC
LynxPubMedStanford SOURCETreefam

-  MalaCards Disease Associations
  MalaCards Gene Search: RD3
Diseases sorted by gene-association score: leber congenital amaurosis 12* (927), rd3-related leber congenital amaurosis* (100), leber congenital amaurosis* (84), retinal degeneration (25), leber congenital amaurosis 1 (8), usher syndrome, type 2a (6), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.77 RPKM in Pituitary
Total median expression: 6.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC035651 - Homo sapiens retinal degeneration 3, mRNA (cDNA clone IMAGE:5578431), with apparent retained intron.
BC065541 - Homo sapiens retinal degeneration 3, mRNA (cDNA clone MGC:75344 IMAGE:6140075), complete cds.
BX647803 - Homo sapiens mRNA; cDNA DKFZp686G0496 (from clone DKFZp686G0496).
JD566858 - Sequence 547882 from Patent EP1572962.
AY191519 - Homo sapiens C1ORF36 mRNA, complete cds.
AK291210 - Homo sapiens cDNA FLJ75844 complete cds.
KJ896094 - Synthetic construct Homo sapiens clone ccsbBroadEn_05488 RD3 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: BC035651
UCSC ID: uc009xda.2
RefSeq Accession: NM_001164688

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RD3:
lca-ov (Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview)

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: BC035651.1
exon count: 2CDS single in 3' UTR: no RNA size: 3150
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2.00frame shift in genome: no % Coverage: 97.46
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.