Human Gene WDR19 (uc010ifl.1)
  Description: Homo sapiens WD repeat domain 19 (WDR19), mRNA.
RefSeq Summary (NM_025132): The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].
Transcript (Including UTRs)
   Position: hg19 chr4:39,184,024-39,217,633 Size: 33,610 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr4:39,205,289-39,217,633 Size: 12,345 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:39,184,024-39,217,633)mRNA (may differ from genome)Protein (195 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneCardsGeneNetworkH-INVHGNC
LynxMalacardsMGIPubMedTreefam

-  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): WDR19
CDC HuGE Published Literature: WDR19
Positive Disease Associations: Blood Pressure Determination
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: WDR19
Diseases sorted by gene-association score: short-rib thoracic dysplasia 5 with or without polydactyly* (1380), cranioectodermal dysplasia 4* (1379), nephronophthisis 13* (1338), senior-loken syndrome 8* (1330), asphyxiating thoracic dystrophy* (238), cranioectodermal dysplasia 1* (213), nephronophthisis 16* (175), senior-loken syndrome-1* (164), prostate adenocarcinoma (19), caroli disease (18), nephronophthisis (16), choledochal cyst (8), ellis-van creveld syndrome (7), short-rib thoracic dysplasia 3 with or without polydactyly (5), cleft lip/palate (4), retinitis pigmentosa (3), ciliopathy (3), eye disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.78 RPKM in Pituitary
Total median expression: 378.01 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.40471-0.330 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  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
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AY029257 - Homo sapiens WD repeat membrane protein mRNA, complete cds.
AK308803 - Homo sapiens cDNA, FLJ98844.
AK294730 - Homo sapiens cDNA FLJ57049 complete cds, highly similar to WD repeat protein 19.
AK026780 - Homo sapiens cDNA: FLJ23127 fis, clone LNG08350.
AK225588 - Homo sapiens mRNA for WD repeat domain 19 variant, clone: LNG08350.
AK304161 - Homo sapiens cDNA FLJ56808 complete cds, highly similar to WD repeat protein 19.
BC032578 - Homo sapiens WD repeat domain 19, mRNA (cDNA clone IMAGE:5493226), complete cds.
KJ904842 - Synthetic construct Homo sapiens clone ccsbBroadEn_14236 WDR19-like gene, encodes complete protein.
BC172278 - Synthetic construct Homo sapiens clone IMAGE:100068972, MGC:198983 WD repeat domain 19 (WDR19) mRNA, encodes complete protein.
JD394935 - Sequence 375959 from Patent EP1572962.
JD287101 - Sequence 268125 from Patent EP1572962.
JD545956 - Sequence 526980 from Patent EP1572962.
AB046858 - Homo sapiens mRNA for KIAA1638 protein, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: AK308803
UCSC ID: uc010ifl.1
RefSeq Accession: NM_025132

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR19:
ce-dysp (Cranioectodermal Dysplasia)
nephron-ov (Nephronophthisis-Related Ciliopathies)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK308803.1
exon count: 9CDS single in 3' UTR: no RNA size: 1494
ORF size: 585CDS single in intron: no Alignment % ID: 99.65
txCdsPredict score: 1020.00frame shift in genome: no % Coverage: 57.70
has start codon: yes 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.