Human Gene WDR35 (uc002rdh.3)
  Description: Homo sapiens WD repeat domain 35 (WDR35), transcript variant 2, mRNA.
RefSeq Summary (NM_020779): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010].
Transcript (Including UTRs)
   Position: hg19 chr2:20,110,029-20,175,424 Size: 65,396 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr2:20,113,363-20,153,722 Size: 40,360 Coding Exon Count: 13 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:20,110,029-20,175,424)mRNA (may differ from genome)Protein (559 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKB

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: WDR35
Diseases sorted by gene-association score: short-rib thoracic dysplasia 7 with or without polydactyly* (1330), cranioectodermal dysplasia 2* (1329), cranioectodermal dysplasia 1* (332), short-rib thoracic dysplasia 3 with or without polydactyly* (138), ellis-van creveld syndrome (18), polydactyly (10), asphyxiating thoracic dystrophy (7), hemophagocytic lymphohistiocytosis, familial, 2 (7), hemophagocytic lymphohistiocytosis, familial, 1 (6), ciliopathy (3), cleft lip/palate (2)
* = Manually curated disease association

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

+  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: 9.79 RPKM in Testis
Total median expression: 165.61 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 -213.00775-0.275 Picture PostScript Text
3' UTR -895.693334-0.269 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom

SCOP Domains:
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50978 - WD40 repeat-like

ModBase Predicted Comparative 3D Structure on B3KR94
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
  AB037757 - Homo sapiens KIAA1336 mRNA for KIAA1336 protein.
BC036659 - Homo sapiens WD repeat domain 35, mRNA (cDNA clone MGC:33196 IMAGE:5266940), complete cds.
AK122917 - Homo sapiens cDNA FLJ16596 fis, clone TESTI4005635, highly similar to WD repeat protein 35.
AK315094 - Homo sapiens cDNA, FLJ96052.
AB385451 - Synthetic construct DNA, clone: pF1KA1336, Homo sapiens WDR35 gene for WD repeat protein 35, complete cds, without stop codon, in Flexi system.
BC033951 - Homo sapiens WD repeat domain 35, mRNA (cDNA clone IMAGE:5286529).
AK022866 - Homo sapiens cDNA FLJ12804 fis, clone NT2RP2002219.
JD303406 - Sequence 284430 from Patent EP1572962.
JD500848 - Sequence 481872 from Patent EP1572962.
JD073535 - Sequence 54559 from Patent EP1572962.
JD193207 - Sequence 174231 from Patent EP1572962.
AK091205 - Homo sapiens cDNA FLJ33886 fis, clone CTONG2007399, highly similar to WD repeat protein 35.
AX746847 - Sequence 372 from Patent EP1308459.
JD501446 - Sequence 482470 from Patent EP1572962.
JD226218 - Sequence 207242 from Patent EP1572962.
JD148512 - Sequence 129536 from Patent EP1572962.
AL832903 - Homo sapiens mRNA; cDNA DKFZp762F1313 (from clone DKFZp762F1313).

-  Other Names for This Gene
  Alternate Gene Symbols: AX746847, B3KR94, B3KR94_HUMAN
UCSC ID: uc002rdh.3
RefSeq Accession: NM_020779
Protein: B3KR94

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR35:
ce-dysp (Cranioectodermal Dysplasia)
evc (Ellis-van Creveld Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AX746847.1
exon count: 18CDS single in 3' UTR: no RNA size: 2788
ORF size: 1680CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 2850.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes 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.