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WAS Gene

protein-coding   GIFtS: 71

GC0XP046204
Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
(Previous name: thrombocytopenia 1 (X-linked) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: IMD2, THC)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
Wiskott-Aldrich syndrome (eczema-thrombocytopenia)1 2     THC12 5
IMD22 3 5     THC2
WASP1 2     wiskott-Aldrich syndrome protein2
thrombocytopenia 1 (X-linked)1 2     WASp3

External Ids:    HGNC: 127311   Entrez Gene: 74542   Ensembl: ENSG000000152857   UniProtKB: P427683   

Export aliases for WAS gene to outside databases

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298 GC0XP048427 GC0XP048534


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

Entrez Gene summary for WAS:
The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction
of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs
suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies
have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to
regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a
rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is
caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in
hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant
arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described,
however, its full-length nature is not known. (provided by RefSeq)

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
Function: Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure
and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte
and platelet function

Gene Wiki entry for WAS (Wiskott-Aldrich syndrome protein)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WAS gene promoter:
         Elk-1   PPAR-gamma2   PPAR-gamma1   CREB   GATA-3   deltaCREB   TFIID   TBP   FOXO4   POU3F2   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for WAS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for WAS 


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

Entrez Gene cytogenetic band: Xp11.4-p11.21   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.4-p11.21

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

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP046204:  view genomic region     (about GC identifiers)

Start:
46,204,599 bp from pter
End:
46,212,234 bp from pter
Size:
7,636 bases
Orientation:
plus strand

1 alternative location:
ChrX+ 48,534,985-48,549,818     
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768 (See protein sequence)
Recommended Name: Wiskott-Aldrich syndrome protein  
Size: 502 amino acids; 52913 Da
Subunit: Binds to CDC42, RAC, NCK, FYN, SRC kinase FGR, BTK, ABL, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma.
Binds the Arp2/3 complex
Subcellular location: Cytoplasm, cytoskeleton
Sequence caution: Sequence=AAH02961.1; Type=Erroneous initiation;
PDB structures from and Proteopedia :
1CEE (3D)    1EJ5 (3D)    1T84 (3D)    2A3Z (3D)    2K42 (3D)    2OT0 (3D)    
Secondary accessions: Q9BU11 Q9UNJ9

Explore the universe of human proteins at neXtProt for WAS: NX_P42768 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000368.1  

    ENSEMBL proteins: 
    ENSP00000410537 ENSP00000365891 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Purified and Recombinant Proteins for WAS 
    Novus Biologicals Proteins for WAS
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP7565724
    GO:0012506 vesicle membrane IEA--
    GO:0015629 actin cytoskeleton IEA--
    About this table

    WAS for ontologies           About GeneDecksing



    Antibodies for WAS: 
    Millipore Mono- and Polyclonal Antibodies for the study of WAS
    Sigma-Aldrich Antibodies for WAS
    R&D Systems Antibodies for WAS (WASP)
    Cell Signaling Technology (CST) Antibodies for WAS  (WASP)
    OriGene Antibodies (see all 3): WAS
    GenScript Superior Antibodies for WAS 
    Novus Biologicals Antibodies for WAS
    Epitomics antibodies for WAS

    Assays for WAS: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for WAS 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    WAS for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000095 PAK_box_Rho-bd
     IPR011993 PH_type
     IPR011026 WASP_C
     IPR003124 WH2_actin-bd
     IPR000697 EVH1

    Graphical View of Domain Structure for InterPro Entry P42768

    ProtoNet protein and cluster: P42768

    1 Blocks protein family: IPB003124 Actin-binding WH2

    UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
    Domain: The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand
    Domain: The CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited state
    of the protein. Binding of Rho-type GTPases to the CRIB induces a conformation change and leads to activation
    Similarity: Contains 1 CRIB domain
    Similarity: Contains 1 WH1 domain
    Similarity: Contains 1 WH2 domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
    Function: Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure
    and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte
    and platelet function

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WAS
    Sigma-Aldrich shRNA Panels and shRNA for WAS
    OriGene 29mer shRNA kits in GFP-retroviral vector: WAS
    OriGene shRNA RFP: WAS
    OriGene basic RS shRNA: WAS
    OriGene siRNA: WAS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WAS 
    miRNA:Sigma-Aldrich microRNA Mimics for WAS
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WAS 
    Search SABiosciences for Assays for microRNAs that regulate WAS

    Gene
    Editing:
    Sigma-Aldrich CompoZr Knockout ZFN for WAS 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: WAS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WAS
    OriGene untagged cDNA clones in CMV expression vector: WAS
    OriGene 3'-UTR clone: WAS 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for WAS 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for WAS 

    3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083 small GTPase regulator activity IEA--
    GO:0005515 protein binding IPI19167335
    GO:0042802 identical protein binding IPI12769847
    About this table

    WAS for ontologies           About GeneDecksing

    Animal Models: 7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Was):

    cellulardigestive/alimentaryendocrine/exocrine glandhematopoietic systemimmune system
    skeletontumorigenesis

    WAS for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    WAS for pathways           About GeneDecksing

    5/6 Millipore Pathways for WAS (see all 6)
        Cytoskeleton remodeling Integrin outside-in signaling
    Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling CDC42 in cellular processes
    Immune response Role of DAP12 receptors in NK cells
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

    5/11 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  WAS (see all 11)
        Cdc42 Signaling
    Axonal Guidance Signaling
    FAK Signaling
    CD28 Signaling in T Helper Cells
    Fcγ Receptor-mediated Phagocytosis in Macrophages and Monocytes

    2 Cell Signaling Technology (CST) Pathways for WAS
        T Cell Receptor Signaling
    Cytoskeletal Signaling

    5/7 Kegg Pathways  (Kegg details for WAS) (see all 7):
        hsa04062 Chemokine signaling pathway
    hsa04520 Adherens junction
    hsa04666 Fc gamma R-mediated phagocytosis
    hsa04810 Regulation of actin cytoskeleton
    hsa05100 Bacterial invasion of epithelial cells

        SABiosciences Pathway-Focused PCR Array including WAS: PAHS-088A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for WAS
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WAS

    5/44 Interacting proteins for WAS (ENSP000003658913 P427681, 2) via UniProtKB, MINT, and/or STRING (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42P609531, 2STRING: ENSP00000314458 EBI-346375,EBI-81752 MINT-13944 MINT-13945 MINT-25018
    PTPN12Q052091, 2STRING: ENSP00000248594 EBI-346375,EBI-2266035 MINT-50152
    HCKP086311STRING: ENSP00000262651 EBI-346375,EBI-346340
    WIPF1O435161STRING: ENSP00000272746 EBI-346375,EBI-346356
    FYNP062412STRING: ENSP00000357656 MINT-50146 MINT-50144 MINT-14847 MINT-50145
    About this table

    5/11 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461 protein complex assembly IEA--
    GO:0006952 defense response TAS8069912
    GO:0006955 immune response IMP8069912
    GO:0007596 blood coagulation TAS8069912
    GO:0008154 actin polymerization or depolymerization TAS8625410
    About this table

    WAS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    WAS for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WAS
    10/19 Novoseek chemical compound relationships for WAS gene (see all 19)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskostatin 88.9 3 15235593 (1), 16472665 (1)
    pip2 56 6 16006560 (3), 15260983 (1), 17302440 (1)
    tyrosine 47.6 88 9731041 (5), 10590061 (5), 10532312 (3), 19234535 (3) (see all 30)
    calpeptin 37.8 4 11698281 (1), 17213309 (1)
    proline 34.3 6 11069762 (2), 12160237 (1), 8892607 (1), 17207458 (1)
    cytochalasin d 24.2 6 12601690 (1), 9731041 (1), 12177428 (1)
    phosphatidylinositol 6.32 8 16968699 (2), 19561083 (2), 9731041 (1), 10590061 (1) (see all 5)
    hydrogen 5.46 4 19298826 (2), 11714264 (1), 15469902 (1)
    gdp 5.16 1 10967094 (1)
    calcium 1.33 2 16582881 (1), 15728466 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WAS
    Sigma-Aldrich shRNA Panels and shRNA for WAS
    OriGene 29mer shRNA kits in GFP-retroviral vector: WAS
    OriGene shRNA RFP: WAS
    OriGene basic RS shRNA: WAS
    OriGene siRNA: WAS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WAS 
    miRNA: Sigma-Aldrich microRNA Mimics for WAS
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WAS 
    Search SABiosciences for Assays for microRNAs that regulate WAS
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: WAS
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WAS
    OriGene untagged cDNA clones in CMV expression vector: WAS
    OriGene 3'-UTR Clone: WAS 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for WAS 
    Primers: OriGene genome-wide validated SYBR primer pairs: WAS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for WAS: PPH07123A

    REFSEQ mRNAs for WAS gene: 

    NM_000377.2  

    Additional cDNA sequence: 

    BC002961.1 BC012738.2 CR591854.1 CR605612.1 CR605854.1 U12707.1 U19927.1 

    5 DOTS entries:

    DT.212325  DT.95100049  DT.100873436  DT.86854947  DT.86854950 

    24/111 AceView cDNA sequences (see all 111):

    BM819869 BM458492 BI764081 AW574817 BM849088 H61193 BQ055374 AA825986 
    BC002961 BI766599 BX283433 CA427815 BE270046 CR605612 BQ012196 CR591854 
    U19927 AA312206 BC012738 BM802845 BQ060937 CR605854 BM563924 H62098 

    highest scoring ESTs for WAS:

    U12707 AA250834 AA825986 AA897085 AI218705 AI281206 AI470207 AI660043 AI886760 AW008801 

    Unigene Cluster for WAS:

    Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
    Hs.2157  [show with all ESTs]
    Unigene Representative Sequence: NM_000377


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for WAS

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  

    About this scheme

    ECgene alternative splicing isoforms for WAS
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490627 ENST00000470107 ENST00000465982 ENST00000474174 ENST00000450772
    ENST00000483750 ENST00000376701(uc004dkm.3)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    WAS expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching WAS gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38963_i_at2, 3 U95-A 1 1.00 1.00 0.83 1.01 U12707 1.00 1.00 1.00 1
    64315_r_at2, 3 U95-C 1 1.00 1.00 0.99 1.04 AI655719 0.60 1.00 0.82 1
    38964_r_at2, 3 U133-A 1 0.94 1.00 1.00 0.96 U12707 1.00 1.00 1.00 1
    205400_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000377 0.60 1.00 0.82 1
    38964_r_at2, 3 U133-A 1 0.94 1.00 -- -- U12707 1.00 1.00 1.00 1
    205400_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    38964_r_at2 U133Plus2 1 0.94 1.00 -- -- -- -- -- -- --
    About this table

    WAS for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    WAS gene expression
    WAS gene electronic northern expression
    WAS gene sage expression
    About these images

    CGAP SAGE TAG: GCTCCCCCTC

    SOURCE GeneReport for Unigene cluster: Hs.2157

    Expression variation in blood from EXPOLDB for WAS

    UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
    Tissue specificity: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen

    Primers: OriGene genome-wide validated SYBR primer pairs: WAS
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for WAS: PPH07123A
        SABiosciences Expression via Pathway-Focused PCR Array including WAS: PAHS-088A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for WAS gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    WAS1   -- Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 90.75(n)
    92.42(a)
    491867  XM_548986.2  XP_548986.2 
    mouse
    (Mus musculus)
    Was1 , 5 X (3.65 cM)5
    Wiskott-Aldrich syndrome homolog (human)1, 5 85.5(n)1
    89.58(a)1
    223761  NM_009515.11  NP_033541.11 
     BC1660005  BG0645175  (see all 11)
    zebrafish
    (Danio rerio)
    was1   -- Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 60.43(n)
    60.57(a)
    335158  NM_199938.1  NP_956232.1 
    fruit fly
    (Drosophila melanogaster)
    WASp3 98E5 sensory organ development actin binding 37(a)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    LAS17(YOR181W)4 15(675940-677841) Actin assembly factor, activates the Arp2/3 protein more   -- 854353  NP_014824.1 
    About this table        Species with no ortholog for WAS

    ENSEMBL Gene Tree for WAS (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for WAS gene
    WASL2  WASF22  WASF32  WASF12  

    WAS for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/27 NCBI SNPs in WAS are shown (see all 27)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1920921,2
    --48541244(+) gtgccA/Cccgca 1 -- ng510--------
    rs2354221,2
    C,F48541901(+) AGCCCT/CGCACA 1 -- ng515Minor allele frequency- C:0.04MN NS EA 602
    rs2354231,2
    C,H,48544650(+) cgagcG/Aggtgc 1 -- int16Minor allele frequency- A:0.00NA WA 10
    rs27358601,2
    --48548998(+) tcttgC/Gtctgt 1 -- int10--------
    rs27377961,2
    C48544600(+) ggtgcG/Ctaagt 1 -- int14Minor allele frequency- C:0.00NS EA 418
    rs27377971,2
    --48544696(+) ggcggC/Tagatg 1 -- int10--------
    rs27377981,2
    --48545443(+) GGGCAC/GATGGC 1 -- int10--------
    rs27377991,2
    --48547112(+) TATTGC/TGGGGG 2 A V mis1 ref10--------
    rs27378001,2
    C48549907(+) TTTAGA/CCTTAC 1 -- ng310--------
    rs32154131,2
    --48549380(+) ACTCT-/TAACTT 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for WAS (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for WAS
         1 CNV: 7789

    QIAGEN SeqTarget long-range PCR primers for resequencing WAS 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    WAS for disorders           About GeneDecksing

    OMIM: 300392   disorders: 301000  313900  300299  

    UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

  • Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as
  • eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by
    eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10
  • Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:313900]. Thrombocytopenia is defined by a
  • decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and
    decreased ability for clotting
  • Defects in WAS are a cause of X-linked severe congenital neutropenia (XLN) [MIM:300299]. XLN is an X-linked
  • immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and
    monocytopenia

    10/21 Novoseek disease relationships for WAS gene (see all 21)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskott-aldrich syndrome 99 358 17205972 (3), 15616597 (3), 9616151 (2), 20182458 (2) (see all 99)
    thrombocytopenia 1 94.8 31 11877312 (2), 15203732 (2), 8743175 (2), 8528199 (2) (see all 24)
    scar1 90.7 28 9889097 (6), 12601690 (5), 12429845 (4), 11747816 (3) (see all 6)
    neutropenia, severe congenital, x-linked 90 3 11877312 (1), 15203732 (1), 11242115 (1)
    eczema 82.4 10 10737997 (1), 12969986 (1), 10447259 (1), 12894849 (1) (see all 9)
    thrombocytopenia 71.1 29 8528198 (4), 16522820 (2), 15218418 (2), 10737997 (1) (see all 17)
    immunodeficiency 66.8 41 14612666 (2), 19351959 (2), 9616151 (1), 10737997 (1) (see all 37)
    abnormal platelets 62.4 1 10397718 (1)
    scar 54.8 43 19716703 (3), 14762109 (3), 11854309 (2), 14588242 (2) (see all 25)
    x-linked agammaglobulinemia 40.8 1 10590061 (1)
    About this table

    GeneTests: WAS
    WAS-Related Disorders

    Locus Specific Mutation Databases (LSDB): WAS
    Human Gene Mutation Database (HGMD): WAS
    Genetic Association Database (GAD): WAS
    Human Genome Epidemiology (HuGE) Navigator: WAS (0 documents)

    Export disorders and mutations for WAS gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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

    10/390 PubMed articles for WAS gene, integrated from 7 sources (see all 390):
    (articles sorted by number of sources associating them with WAS)
    1. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PubMed id 7795648)1, 2, 3, 7 Villa A.... Vezzoni P. (1995)
    2. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. (PubMed id 8528198)1, 2, 7 Kolluri R.... Siminovitch K.A. (1995)
    3. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. (PubMed id 9713366)1, 2, 7 Facchetti F.... Nelson D.L. (1998)
    4. Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott- Aldrich Syndrome protein. (PubMed id 12235133)1, 2, 7 Cory G.O.... Ridley A.J. (2002)
    5. The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. (PubMed id 10066431)1, 2, 7 Hagemann T.L. and Kwan S.-P. (1999)
    6. Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP. (PubMed id 12769847)1, 2, 7 Cory G.O.C.... Ridley A.J. (2003)
    7. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)1, 2, 7 Devriendt K.... Vandenberghe P. (2001)
    8. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PubMed id 9126958)1, 2, 7 Remold-O'Donnell E.... Rosen F.S. (1997)
    9. Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein. (PubMed id 10360578)1, 2, 7 Abdul-Manan N.... Rosen M.K. (1999)
    10. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PubMed id 9405671)1, 2, 7 Ramesh N.... Geha R.S. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7454 HGNC: 12731 AceView: WAS Ensembl:ENSG00000015285 euGenes: HUgn7454
    ECgene: WAS Kegg: 7454 H-InvDB: WAS

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for WAS Genetics and Cytogenetics in Oncology and Haematology
    WASbasehttp://bioinf.uta.fi/WASbase/
    WASPbasehttp://homepage.mac.com/kohsukeimai/wasp/WASPbase.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WAS
    Wikipedia http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein

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

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