Human Gene DGCR5 (uc021wku.1)
  Description: Homo sapiens DiGeorge syndrome critical region gene 5 (non-protein coding) (DGCR5), transcript variant 1, non-coding RNA.
Transcript (Including UTRs)
   Position: hg19 chr22:18,958,011-18,982,142 Size: 24,132 Total Exon Count: 4 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:18,958,011-18,982,142)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneNetworkH-INVHGNCLynxMalacards
PubMed

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DGCR5
CDC HuGE Published Literature: DGCR5
Positive Disease Associations: Blood Coagulation Factors , Body Mass Index , Cholesterol , Cholesterol, HDL , Cholesterol, LDL , Metabolism , Parkinson Disease
Related Studies:
  1. Blood Coagulation Factors
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  2. Blood Coagulation Factors
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  3. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: DGCR5
Diseases sorted by gene-association score: digeorge syndrome (16)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.63 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 108.08 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
  X91348 - H.sapiens predicted non coding cDNA (DGCR5).
AB051434 - Homo sapiens mRNA for KIAA1647 protein, partial cds.
JD465930 - Sequence 446954 from Patent EP1572962.
JD444852 - Sequence 425876 from Patent EP1572962.
JD467118 - Sequence 448142 from Patent EP1572962.
JD530010 - Sequence 511034 from Patent EP1572962.
JD122967 - Sequence 103991 from Patent EP1572962.
JD120401 - Sequence 101425 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NR_002733
UCSC ID: uc021wku.1
RefSeq Accession: NR_002733

-  Gene Model Information
 
category: noncoding nonsense-mediated-decay: no RNA accession: NR_002733.2
exon count: 4CDS single in 3' UTR: no RNA size: 3334
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 316.50frame shift in genome: no % Coverage: 99.67
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: 2612# 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.