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WDR49 Gene

protein-coding   GIFtS: 44
GCID: GC03M167196

WD Repeat Domain 49

  Search for WDR49
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WD Repeat Domain 491 2
WD Repeat-Containing Protein 492

External Ids:    HGNC: 265871   Entrez Gene: 1517902   Ensembl: ENSG000001747767   UniProtKB: Q8IV353   

Export aliases for WDR49 gene to outside databases

Previous GC identifers: GC03M168680 GC03M164566


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for WDR49 Gene:
WDR49 (WD repeat domain 49) is a protein-coding gene. An important paralog of this gene is WDR64.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the WDR49 gene promoter:
         FOXD1   STAT5A   CUTL1   SRY   POU2F1   POU2F1b   POU2F1a   Chx10   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR49 promoter sequence
   Search Chromatin IP Primers for WDR49

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR49


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

Entrez Gene cytogenetic band: 3q26.1   Ensembl cytogenetic band:  3q26.1   HGNC cytogenetic band: 3q26.1

WDR49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR49 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M167196:  view genomic region     (about GC identifiers)

Start:
167,196,472 bp from pter      End:
167,371,771 bp from pter
Size:
175,300 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: WDR49_HUMAN, Q8IV35 (See protein sequence)
Recommended Name: WD repeat-containing protein 49  
Size: 697 amino acids; 79295 Da
Secondary accessions: Q8N297
Alternative splicing: 2 isoforms:  Q8IV35-1   Q8IV35-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WDR49: NX_Q8IV35

Explore proteomics data for WDR49 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WDR49 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_849146.1  
    ENSEMBL proteins: 
     ENSP00000311343   ENSP00000420508   ENSP00000419130   ENSP00000419749   ENSP00000418539  
     ENSP00000417090   ENSP00000418718   ENSP00000419917   ENSP00000417724   ENSP00000410863  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 Q8IV35

    ProtoNet protein and cluster: Q8IV35

    UniProtKB/Swiss-Prot: WDR49_HUMAN, Q8IV35
    Similarity: Contains 8 WD repeats


    Find genes that share domains with WDR49           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with WDR49           About GenesLikeMe


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    peroxisome2
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR49
    Interactions:

        Search GeneGlobe Interaction Network for WDR49

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for WDR49 (ENSP000003113434) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF38ENSP000002651544STRING: ENSP00000416125 STRING: ENSP00000265154
    PPANENSP000002531074STRING: ENSP00000253107
    PPAN-P2RY11ENSP000003773854STRING: ENSP00000377385
    DDX60LENSP000002601844STRING: ENSP00000260184
    SKIV2L2ENSP000002306404STRING: ENSP00000230640
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WDR49



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WDR49 gene: 
    NM_178824.3  

    Unigene Cluster for WDR49:

    WD repeat domain 49
    Hs.213762  [show with all ESTs]
    Unigene Representative Sequence: NM_178824
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308378(uc003fev.1) ENST00000476376(uc003feu.1) ENST00000472600
    ENST00000479765(uc003few.1) ENST00000493061 ENST00000460448 ENST00000466760
    ENST00000488012 ENST00000471198 ENST00000453925(uc011bpd.1)
    miRNA
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    Additional mRNA sequence: 

    AK090939.1 AK097556.1 AK294387.1 BC035512.2 

    3 DOTS entries:

    DT.100018273  DT.91803979  DT.100018272 

    13 AceView cDNA sequences:

    BM547393 AK097556 AI459507 BC035512 NM_178824 BM148084 AX746694 BG621903 
    AK090939 BI756956 CA315031 BM146536 BM147643 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for WDR49    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                          -                                                     -     -     -         
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                          -     -     -     -     -     -     -     -     -                           


    ECgene alternative splicing isoforms for WDR49

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WDR49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WDR49 Expression
    About this image

    WDR49 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR49 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.213762
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for WDR49 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr491 , 5 WD repeat domain 491, 5 82.23(n)1
    76.95(a)1
      3 (33.75 cM)5
    2132481  XM_006502498.11  XP_006502561.11 
     753968685 
    lizard
    (Anolis carolinensis)
    Reptilia WDR496
    WD repeat domain 49
    35(a)
    1 ↔ 1
    3(9340903-9492031)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.136682 Transcribed sequences 76.04(n)    BX736819.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-202c14.36
    si:dkey-202c14.3
    16(a)
    many ↔ many
    12(3542933-3584842) ENSDARG00000096532
    fruit fly
    (Drosophila melanogaster)
    Insecta CG405836
    --
    15(a)
    1 → many
    U(4408205-4409285)


    ENSEMBL Gene Tree for WDR49 (if available)
    TreeFam Gene Tree for WDR49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WDR49 gene
    WDR642  EFCAB82  

    Find genes that share paralogs with WDR49           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for WDR49
    PGOHUM00000233968


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WDR49 (see all 3350)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358894
    A colorectal cancer sample4--see VAR_0358892 R H mis40--------
    rs672467761,2
    C--164584908(+) ACGAG-/AG    
       GTAAA
    TGTAA
    1 -- int10--------
    rs604482051,2
    C--164648931(+) AAAAA-/A/AA  
            
    GAGCA
    1 -- int11NA 2
    rs1469350151,2
    --167196031(+) CCTTTA/TTATAG 1 -- int10--------
    rs171868651,2
    C,F,H--167196202(+) TGGTGC/TTATTG 1 -- int111Minor allele frequency- T:0.01NA EA NS 1182
    rs1116963431,2
    C,F--167196209(+) ATTGAC/TAAAGT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs770551641,2
    C,F--167196273(+) GAAACA/CGTTTT 1 -- int11Minor allele frequency- C:0.09WA 118
    rs1920250231,2
    --167196293(+) ATTTGC/TAGATA 1 -- int10--------
    rs1829015171,2
    --167196331(+) TTCAAC/TGCAGG 1 -- int10--------
    rs738787171,2
    C--167196518(+) ACAGAT/CGATAG 1 -- ut313Minor allele frequency- C:0.06WA CSA 121

    HapMap Linkage Disequilibrium report for WDR49 (167196472 - 167371771 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for WDR49:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv26146CNV Loss19812545
    nsv877969CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WDR49
    DNA2.0 Custom Variant and Variant Library Synthesis for WDR49

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with WDR49           About GenesLikeMe

    Genetic Association Database (GAD): WDR49
    Human Genome Epidemiology (HuGE) Navigator: WDR49 (1 document)

    Export disorders for WDR49 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)
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    PubMed articles for WDR49 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with WDR49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 151790 HGNC: 26587 AceView: FLJ33620 Ensembl:ENSG00000174776 euGenes: HUgn151790
    ECgene: WDR49 H-InvDB: WDR49

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for WDR49 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WDR49 gene:
    Search GeneIP for patents involving WDR49

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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