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WAS Gene

protein-coding   GIFtS: 72

GC0XP048427
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)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
IMD2 2, 3, 5
OTTHUMP00000032395 2
THC 2
THC1 2, 5
WASP 1, 2
WASp 3
Descriptions
Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 2
Wiskott-Aldrich syndrome protein 2
thrombocytopenia 1 (X-linked) 1, 2
External Ids
HGNC: 127311
Entrez Gene: 74542
UniProtKB: P427683
Ensembl: ENSG000000152857
Search outside databases for aliases for WAS gene

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298

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

EntrezGene 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the WAS gene  

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)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048427:     (about GC identifiers)

Start:
48,427,141 bp from pter
End:
48,434,759 bp from pter
Size:
7,619 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_079573.3  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
PDB structures from and Proteopedia :
1CEE (3D)    1EJ5 (3D)    1T84 (3D)    2A3Z (3D)    2K42 (3D)    2OT0 (3D)    
Secondary accessions: Q9BU11 Q9UNJ9

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000368.1  

    ENSEMBL proteins: 
    ENSP00000365891 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich CompoZr ZFN for WAS  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (WASP )
    Human Recombinant Proteins from Abnova (WAS)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005737 cytoplasm IEA--
    GO:0012506 vesicle membrane IEA--
    GO:0015629 actin cytoskeleton TAS8625410
    About this table

    Antibodies for WAS: 
    Browse Antibodies Central at Invitrogen
    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)
    Antibodies from Abcam (WASP ), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (WAS)
    Novus Biologicals Antibodies for WAS

    Assays for WAS: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR000095 PAK_box_Rho_bd
     IPR011993 PH_type
     IPR003124 WH2_actin_bd
     IPR000697 EVH1


       GeneDecks  WAS for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (WAS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (WAS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000377

                  Applied Biosystems Silencer® siRNAs for WAS

                  Sigma-Aldrich siRNA and siRNA Panels for WAS  
                         Sigma-Aldrich shRNA Panels and shRNA for WAS  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for WAS
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000377
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000377
                                     untagged cDNA clone in CMV expression vector: NM_000377 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000377

    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

    7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Was):

    cellulardigestive/alimentaryendocrine/exocrine glandhematopoietic systemimmune system
    skeletontumorigenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083 small GTPase regulator activity TAS8625410
    GO:0042802 identical protein binding IPI12769847
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    4 Invitrogen iPath™ Online BioAtlas - Pathways for WAS (Maps provided by GeneGo):
     Integrin-mediated cell-matrix adhesion
     Regulation of actin cytoskeleton by Rho GTPases
     Role of CD28 signaling in cytoskeleton reorganization
     CDC42 in cellular processes

       GeneDecks  WAS for the pathways selected above  
    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

       GeneDecks  WAS for the pathways selected above  
    About GeneDecksing

    5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for  WAS  (Your Favorite Gene powered by Ingenuity) (see all 9
     CD28 Signaling in T Helper Cells
     Axonal Guidance Signaling
     Leukocyte Extravasation Signaling
     Regulation of Actin-based Motility by Rho
     Ephrin Receptor Signaling

       GeneDecks  WAS for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  WAS for the pathways selected above  
    About GeneDecksing

    4 Kegg Pathways  (Kegg details for WAS):
     hsa04520 Adherens junction
     hsa04810 Regulation of actin cytoskeleton
     hsa05130 Pathogenic Escherichia coli infection - EHEC
     hsa05131 Pathogenic Escherichia coli infection - EPEC

       GeneDecks  WAS for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  WAS 


    5/80 Interacting proteins for WAS (ENSP000003658913 P427681, 2) via UniProtKB, MINT, and/or STRING (see all 80 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42P2P609531, 2STRING (score=.999) EBI-346375, EBI-81752 MINT-13944 MINT-13945 MINT-25018
    HCKP086311STRING (score=.983) EBI-346375, EBI-346340
    WIPF1O435161STRING (score=.999) EBI-346375, EBI-346356
    FYNP062412STRING (score=.999) MINT-50146 MINT-50144 MINT-14847 MINT-50145
    NCK1P163332STRING (score=.999) MINT-14451 MINT-14453 MINT-14452
    PSTPIP1O435862STRING (score=.993) MINT-50147 MINT-50148
    About this table

    5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461 protein complex assembly TAS8625410
    GO:0006952 defense response TAS8069912
    GO:0006955 immune response IMP8069912
    GO:0007596 blood coagulation TAS8069912
    GO:0008544 epidermis development TAS8069912
    About this table
    (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

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

    Browse Tocris compounds for WAS
    10/15 Novoseek chemical compound relationships for WAS gene (see all 15 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskostatin 82.27 3 15235593 (1), 16472665 (1)
    pip2 57.25 6 16006560 (3), 15260983 (1), 17302440 (1)
    tyrosine 46.62 74 9731041 (5), 10590061 (5), 10532312 (3), 19234535 (3) (see all 26)
    proline 36.37 6 11069762 (2), 12160237 (1), 8892607 (1), 17207458 (1)
    gdp 7.34 1 10967094 (1)
    hydrogen 3.30 2 11714264 (1), 15469902 (1)
    phosphatidylinositol 2.08 6 16968699 (2), 9731041 (1), 12891007 (1), 10590061 (1)
    calcium 1.37 2 16582881 (1), 15728466 (1)
    atp 0.00 2 17251352 (1), 15094799 (1)
    lipid 0.00 11 12196287 (4), 17854313 (1), 18483558 (1), 15509508 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    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 Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (WAS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (WAS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000377

                  Sigma-Aldrich siRNA and siRNA Panels for WAS  
                         Sigma-Aldrich shRNA Panels and shRNA for WAS  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000377  

    REFSEQ mRNAs for WAS gene: 

    NM_000377.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000377  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000377
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000377
                                     untagged cDNA clone in CMV expression vector: NM_000377 

    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 ):

    BI766599 U19927 CR605612 BM458492 BM819869 AA312206 BE270046 BC002961 
    BQ012196 AW574817 CR605854 BM802845 BQ060937 BQ055374 BX283433 BM563924 
    CA427815 BC012738 BI764081 AA825986 BM849088 CR591854 H61193 BX411081 

    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

    1 Ensembl transcript including schematic representation:
    ENST00000376701  
    (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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    WAS expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for WAS

    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 2 1.00 0.97 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 2 1.00 0.97 -- -- U12707 1.00 1.00 1.00 1

    205400_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    38964_r_at2 U133Plus2 2 1.00 0.97 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, 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 (2.00 cM)5
    Wiskott-Aldrich syndrome homolog (human)1, 5 85.5(n)1
    89.58(a)1
    223761  NM_009515.11  NP_033541.11 
     AL6630325  BC1660005  (see all 10)
    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
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for WAS gene
    WASL2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/25 NCBI SNPs in WAS are shown (see all 25 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 19)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs2354221,2
    C,F,H48426845(+) AGCCCT/CGCACA 1 -- ng514Minor allele frequency- C:0.03EU EA WA 418
    rs48247261,2
    H48428385(+) CAAGGC/GTATCA 1 -- int14Minor allele frequency- G:0.00EU EA WA 418
    rs27377961,2
    H48429544(+) ggtgcG/Ctaagt 1 -- int14Minor allele frequency- C:0.00EU EA WA 418
    rs2354231,2
    C48429594(+) cgagcA/Gggtgc 1 -- int10--------
    rs574892081,2
    --48432668(+) CCCCAA/GAGAGC 1 E/K mis10--------
    --
    rs412984661,2
    --48426713(+) TGTCCC/GCAGCC 1 -- ng510--------
    rs27377991,2
    --48432056(+) TATTGC/TGGGGG 1 V/A mis10--------
    rs115459071,2
    --48427307(+) TTGGAC/TGAAAA 1 R/X non10--------
    rs27378001,2
    --48434851(+) tttagA/Ccttac 1 -- ng310--------
    --
    rs289351781,2
    --48427656(+) GCTGCC/GCCCTG 1 P/R mis1 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for WAS (up to first 250kb)

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

    OMIM: 300392   disorders: 301000  313900  300299  313900  

    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
  • 10/19 Novoseek disease relationships for WAS gene (see all 19 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskott-aldrich syndrome 98.98 330 17205972 (3), 15616597 (3), 9616151 (2), 8805332 (2) (see all 99)
    thrombocytopenia 1 94.63 29 11877312 (2), 15203732 (2), 8743175 (2), 8528199 (2) (see all 22)
    scar1 91.39 28 9889097 (6), 12601690 (5), 12429845 (4), 11747816 (3) (see all 6)
    neutropenia, severe congenital, x-linked 89.48 3 11877312 (1), 15203732 (1), 11242115 (1)
    eczema 82.77 9 10737997 (1), 12969986 (1), 10447259 (1), 12894849 (1) (see all 8)
    thrombocytopenia 70.46 28 8528198 (4), 16522820 (2), 15218418 (2), 10737997 (1) (see all 16)
    immunodeficiency 65.38 38 14612666 (2), 9616151 (1), 10737997 (1), 12367583 (1) (see all 35)
    abnormal platelets 63.88 1 10397718 (1)
    scar 51.85 32 14762109 (3), 11854309 (2), 18388318 (2), 15196561 (2) (see all 20)
    x-linked agammaglobulinemia 42.39 1 10590061 (1)
    About this table

    GeneTests: WAS
    WAS-Related Disorders

    Human Gene Mutation Database: WAS
    Genetic Association Database: WAS

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

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

    10/352 PubMed articles for WAS gene (see all 352 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 7454 HGNC: 12731 AceView: WAS Ensembl:ENSG00000015285 euGenes: HUgn7454
    ECgene: WAS 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.genetests.org/query?gene=WAS
    Wikipedia http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for WAS:
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     Antibodies for WAS

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

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