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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WDR17 Gene

protein-coding   GIFtS: 47
GCID: GC04P176987

WD Repeat Domain 17

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
WD Repeat Domain 171 2
WD Repeat-Containing Protein 172
EC 2.7.7.88
EC 6.1.18

External Ids:    HGNC: 166611   Entrez Gene: 1169662   Ensembl: ENSG000001506277   OMIM: 6090055   UniProtKB: Q8IZU23   

Export aliases for WDR17 gene to outside databases

Previous GC identifers: GC00U991124 GC04P177538 GC04P177683 GC04P177362 GC04P177224 GC04P172737


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WDR17 Gene:
This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought
to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this
gene. (provided by RefSeq, Nov 2009)

GeneCards Summary for WDR17 Gene: 
WDR17 (WD repeat domain 17) is a protein-coding gene. Diseases associated with WDR17 include retinal disease, and retinitis. An important paralog of this gene is TBL1Y.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WDR17 gene promoter:
         HFH-3   COUP-TF1   Pax-5   COUP   HNF-4alpha2   HNF-4alpha1   FOXI1   HEN1   COUP-TF   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR17 promoter sequence
   Search SABiosciences Chromatin IP Primers for WDR17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q34   Ensembl cytogenetic band:  4q34.2   HGNC cytogenetic band: 4q34

WDR17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR17 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P176987:  view genomic region     (about GC identifiers)

Start:
176,986,985 bp from pter      End:
177,103,979 bp from pter
Size:
116,995 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: WDR17_HUMAN, Q8IZU2 (See protein sequence)
Recommended Name: WD repeat-containing protein 17  
Size: 1322 amino acids; 147703 Da
Sequence caution: Sequence=BC146812; Type=Frameshift; Positions=268;
Secondary accessions: E7EQX0
Alternative splicing: 2 isoforms:  Q8IZU2-1   Q8IZU2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WDR17: NX_Q8IZU2

Explore proteomics data for WDR17 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IZU2

  • 2 DME Specific Peptides for WDR17 (Q8IZU2)
     TVLGESA  DDGTVRI 

    WDR17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    WDR17 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_733828.2  NP_851782.3  

    ENSEMBL proteins: 
     ENSP00000422763   ENSP00000280190   ENSP00000422200   ENSP00000427502   ENSP00000426847  
     ENSP00000426985   ENSP00000377258  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8IZU2

    ProtoNet protein and cluster: Q8IZU2

    UniProtKB/Swiss-Prot: WDR17_HUMAN, Q8IZU2
    Similarity: Contains 12 WD repeats


    WDR17 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Enzyme Numbers (IUBMB): EC 6.1.12 EC 2.7.7.82

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    WDR17 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidWDR17 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR17


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDR17

    1 Interacting protein for WDR17 (Q8IZU23) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS1P149213I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WDR17

    Search CenterWatch for drugs/clinical trials and news about WDR17

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for WDR17 gene (2 alternative transcripts): 
    NM_170710.4  NM_181265.3  

    Unigene Clusters for WDR17:

    WD repeat domain 17
    Hs.532056  [show with all ESTs], Hs.693278
    Unigene Representative Sequences: NM_170710, BC118549
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000508596(uc021xup.1) ENST00000509792 ENST00000280190 ENST00000507824
    ENST00000513261 ENST00000505894 ENST00000443118 ENST00000508773 ENST00000393643(uc003iuj.3 uc003ium.4 uc003iul.2 uc003iun.3)

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate WDR17:
    hsa-miR-4316 hsa-miR-3671 hsa-miR-513b hsa-miR-1323 hsa-miR-3653 hsa-miR-590-3p hsa-miR-548o
    SwitchGear 3'UTR luciferase reporter plasmidWDR17 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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                         Customized lentivirus expression plasmids for stable overexpression of WDR17 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDR17

    Additional mRNA sequence: 

    BC118549.1 BC118627.1 

    6 DOTS entries:

    DT.100015107  DT.97768340  DT.121257163  DT.95305865  DT.97805887  DT.91667994 

    24/35 AceView cDNA sequences (see all 35):

    NM_181265 BM875452 BQ882167 BQ267492 NM_170710 BX508081 AF492460 BX954313 
    BM680980 BM725970 AK130128 BM875703 BI713775 BQ640079 BQ270403 AK098748 
    BU570941 BM726935 BX648508 AL046290 AA668216 BU741204 AL712554 AA371105 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WDR17 expression in normal human tissues (normalized intensities)      WDR17 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTATCTA
    WDR17 Expression
    About this image


    WDR17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer

    See WDR17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WDR17

    SOURCE GeneReport for Unigene clusters: Hs.532056 Hs.693278
        SABiosciences Custom PCR Arrays for WDR17
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR17

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for WDR17 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr171 , 5 WD repeat domain 171, 5 86.33(n)1
    88.51(a)1
      8 (29.28 cM)5
    2444841  NM_028220.31  NP_082496.31 
     546290555 
    chicken
    (Gallus gallus)
    Aves WDR171 WD repeat domain 17 79.55(n)
    83.13(a)
      422570  XM_003641165.1  XP_003641213.1 
    lizard
    (Anolis carolinensis)
    Reptilia WDR176
    Uncharacterized protein
    85(a)
    1 ↔ 1
    5(117448413-117534116)
    zebrafish
    (Danio rerio)
    Actinopterygii wdr171 WD repeat domain 17 71.66(n)
    81.9(a)
      561804  NM_001201544.1  NP_001188473.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ebi6
    ebi
    15(a)
    1 → many
    2L(415067-418536)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SIF26
    WD40 repeat-containing subunit of the Set3C histon...
    13(a)
    1 → many
    II(447709-449316)


    ENSEMBL Gene Tree for WDR17 (if available)
    TreeFam Gene Tree for WDR17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WDR17 gene
    TBL1Y2  TBL1XR12  TBL1X2  
    5 SIMAP similar genes for WDR17 using alignment to 7 protein entries:     WDR17_HUMAN (see all proteins):
    GNB5    FBXW7    KATNB1    PLRG1    PF20

    WDR17 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2582 SNPs in WDR17 are shown (see all 2582)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1430596651,2
    --176985038(+) ATTTTA/GGTAGG 2 -- us2k10--------
    rs1482484131,2
    --176985105(+) CCTCGG/TCCTTC 2 -- us2k10--------
    rs1402473991,2
    --176985106(+) CTCGGC/TCTTCC 2 -- us2k10--------
    rs1876898161,2
    --176985145(+) CCGCGA/CCCGGC 2 -- us2k10--------
    rs761705801,2
    C,F--176985158(+) GTTTTT/ATGTTT 2 -- us2k12Minor allele frequency- A:0.14WA 120
    rs749519941,2
    C,F--176985189(+) CATTAT/CGAGCA 2 -- us2k12Minor allele frequency- C:0.14WA 120
    rs1916159501,2
    --176985212(+) AAGATA/TTTTTC 2 -- us2k10--------
    rs751836481,2
    C,F--176985215(+) ATTTTT/CTCCGT 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1841298291,2
    --176985330(+) ACTATA/CGTCTG 2 -- us2k10--------
    rs2014113251,2
    --176985333(+) TAGTC-/TTGTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for WDR17 (176986985 - 177103979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for WDR17:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728772CNV Deletion23290073
    esv2728774CNV Deletion23290073
    esv34137CNV Loss18971310
    esv27476CNV Loss19812545
    nsv822849CNV Loss20364138
    nsv510894CNV Complex20534489

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609005    OMIM disorders: --

    2 diseases for WDR17:    About MalaCards
    retinal disease    retinitis


    WDR17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): WDR17
    Human Genome Epidemiology (HuGE) Navigator: WDR17 (1 document)

    Export disorders for WDR17 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WDR17 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with WDR17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34. (PubMed id 12401215)1, 2, 3 Stohr H....Weber B.H.F. (2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice. (PubMed id 19727342)1 Geisert E.E....Williams R.W. (2009)
    4. Mapping of transcription start sites of human retina expressed genes. (PubMed id 17286855)1 Roni V.... Wissinger B. (2007)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    6. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 116966 HGNC: 16661 AceView: WDR17 Ensembl:ENSG00000150627 euGenes: HUgn116966
    ECgene: WDR17 H-InvDB: WDR17

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WDR17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for WDR17 gene:
    Search GeneIP for patents involving WDR17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Proteins for WDR17
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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