Human Gene WDR11 (uc021pzt.1)
  Description: Homo sapiens WD repeat domain 11 (WDR11), mRNA.
RefSeq Summary (NM_018117): 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. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr10:122,610,687-122,669,038 Size: 58,352 Total Exon Count: 29 Strand: +
Coding Region
   Position: hg19 chr10:122,610,933-122,668,225 Size: 57,293 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:122,610,687-122,669,038)mRNA (may differ from genome)Protein (1224 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: WDR11_HUMAN
DESCRIPTION: RecName: Full=WD repeat-containing protein 11; AltName: Full=Bromodomain and WD repeat-containing protein 2; AltName: Full=WD repeat-containing protein 15;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Note=A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.
SIMILARITY: Contains 9 WD repeats.
SEQUENCE CAUTION: Sequence=BAA92589.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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): WDR11
CDC HuGE Published Literature: WDR11
Positive Disease Associations: Asthma , Coronary Disease
Related Studies:
  1. Asthma
    Medea Imboden et al. The Journal of allergy and clinical immunology 2012, Genome-wide association study of lung function decline in adults with and without asthma., The Journal of allergy and clinical immunology. [PubMed 22424883]
    Genetic heterogeneity of lung function might be extensive. Our results suggest that genetic determinants of longitudinal and cross-sectional lung function differ and vary by asthma status.
  2. Coronary Disease
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: WDR11
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 14 with or without anosmia* (1231), wdr11-related isolated gonadotropin-releasing hormone deficiency* (500), normosmic congenital hypogonadotropic hypogonadism* (124), kallmann syndrome* (95), glioblastoma (9), iridocyclitis (5)
* = 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: 11.98 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 365.59 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 -109.20246-0.444 Picture PostScript Text
3' UTR -209.27813-0.257 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
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9BZH6
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 orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  JD307219 - Sequence 288243 from Patent EP1572962.
JD125192 - Sequence 106216 from Patent EP1572962.
JD224869 - Sequence 205893 from Patent EP1572962.
BC040469 - Homo sapiens bromodomain and WD repeat domain containing 2, mRNA (cDNA clone MGC:32537 IMAGE:4730308), complete cds.
AK299524 - Homo sapiens cDNA FLJ57184 complete cds, highly similar to Bromodomain and WD repeat domain-containing protein 2.
AB037772 - Homo sapiens KIAA1351 mRNA for KIAA1351 protein.
AF320223 - Homo sapiens WD40 repeat domain 11 protein (WDR11) mRNA, complete cds.
AK301761 - Homo sapiens cDNA FLJ57220 complete cds, moderately similar to Bromodomain and WD repeat domain-containing protein 2.
BC071564 - Homo sapiens bromodomain and WD repeat domain containing 2, mRNA (cDNA clone MGC:87032 IMAGE:30346203), complete cds.
JD461479 - Sequence 442503 from Patent EP1572962.
AK315145 - Homo sapiens cDNA, FLJ96114, highly similar to Homo sapiens bromodomain and WD repeat domain containing 2 (BRWD2), mRNA.
AB385454 - Synthetic construct DNA, clone: pF1KA1351, Homo sapiens BRWD2 gene for bromodomain and WD repeat domain-containing protein 2, complete cds, without stop codon, in Flexi system.
KJ899175 - Synthetic construct Homo sapiens clone ccsbBroadEn_08569 WDR11 gene, encodes complete protein.
AL137699 - Homo sapiens mRNA; cDNA DKFZp434L1715 (from clone DKFZp434L1715).
AK001368 - Homo sapiens cDNA FLJ10506 fis, clone NT2RP2000510.
JD020933 - Sequence 1957 from Patent EP1572962.
JD030155 - Sequence 11179 from Patent EP1572962.
AK124522 - Homo sapiens cDNA FLJ42531 fis, clone BRACE3002508.
AK000579 - Homo sapiens cDNA FLJ20572 fis, clone REC01048.
AK025050 - Homo sapiens cDNA: FLJ21397 fis, clone COL03592.
AK092984 - Homo sapiens cDNA FLJ35665 fis, clone SPLEN2017740.
AX747838 - Sequence 1363 from Patent EP1308459.
JD557641 - Sequence 538665 from Patent EP1572962.
JD340498 - Sequence 321522 from Patent EP1572962.
JD409893 - Sequence 390917 from Patent EP1572962.
JD184555 - Sequence 165579 from Patent EP1572962.
JD096149 - Sequence 77173 from Patent EP1572962.
JD091083 - Sequence 72107 from Patent EP1572962.
JD504247 - Sequence 485271 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BRWD2, KIAA1351, NM_018117, NP_060587, Q5VWA1, Q9BZH6, Q9P2J6, WDR11_HUMAN, WDR15
UCSC ID: uc021pzt.1
RefSeq Accession: NM_018117
Protein: Q9BZH6 (aka WDR11_HUMAN or WD11_HUMAN)
CCDS: CCDS7619.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene WDR11:
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018117.11
exon count: 29CDS single in 3' UTR: no RNA size: 4746
ORF size: 3675CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7514.00frame shift in genome: no % Coverage: 99.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 1
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.