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WAS Gene

protein-coding   GIFtS: 71
GCID: GC0XP048534

Wiskott-Aldrich Syndrome

(Previous names: thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome...)
(Previous symbols: IMD2, THC)
  See WAS-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)
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Aliases
Wiskott-Aldrich Syndrome1 2     THC12 5
IMD21 2 3 5     Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia)1
THC1 2     WASP2
Thrombocytopenia 1 (X-Linked)1 2     Wiskott-Aldrich Syndrome Protein2
eczema-thrombocytopenia1 2     WASp3
SCNX2 5     

External Ids:    HGNC: 127311   Entrez Gene: 74542   Ensembl: ENSG000000152857   OMIM: 3003925   UniProtKB: P427683   

Export aliases for WAS gene to outside databases

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298 GC0XP048427 GC0XP046204


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WAS Gene:
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, Jul 2008)

GeneCards Summary for WAS Gene:
WAS (Wiskott-Aldrich syndrome) is a protein-coding gene. Diseases associated with WAS include thrombocytopenia, and x-linked thrombocytopenia. GO annotations related to this gene include small GTPase regulator activity and identical protein binding. An important paralog of this gene is WASL.

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
Function: Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with
the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet
function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by
pathogenic bacteria

Gene Wiki entry for WAS (Wiskottâ€"Aldrich syndrome protein) Gene


(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_000023.10  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the WAS gene promoter:
         CREB   PPAR-alpha   PPAR-gamma1   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWAS promoter sequence
   Search Chromatin IP Primers for WAS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP048534:  view genomic region     (about GC identifiers)

Start:
48,534,985 bp from pter      End:
48,549,818 bp from pter
Size:
14,834 bases      Orientation:
plus 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: WASP_HUMAN, P42768 (See protein sequence)
Recommended Name: Wiskott-Aldrich syndrome protein  
Size: 502 amino acids; 52913 Da
Subunit: Interacts with NCK1 (via SH3 domains) (By similarity). Interacts with CDC42, RAC, NCK, HCK, FYN, SRC
kinase FGR, BTK, ABL1, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma. Binds the Arp2/3 complex. Interacts
(via C-terminus) with ALDOA. Interacts with E.coli effector protein EspF(U)
Sequence caution: Sequence=AAH02961.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for WAS:
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

Explore proteomics data for WAS at MOPED

Post-translational modifications: 

  • Phosphorylated at Tyr-291 by FYN and HCK, inducing WAS effector activity after TCR engagement. Phosphorylation at
    Tyr-291 enhances WAS activity in promoting actin polymerization and filopodia formation1
  • Ubiquitination2 at Lys76, Lys144, Lys147
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000368.1  
    ENSEMBL proteins: 
     ENSP00000410537   ENSP00000365891  
    Reactome Protein details: P42768

    WAS Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for WAS 

    WAS Antibody Products:

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    WAS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for WAS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR027641 WASP
     IPR000095 CRIB_dom
     IPR011993 PH_like_dom
     IPR011026 WASP_C
     IPR003124 WH2_dom

    Graphical View of Domain Structure for InterPro Entry P42768

    ProtoNet protein and cluster: P42768

    1 Blocks protein domain: 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


    Find genes that share domains with WAS           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WASP_HUMAN, P42768
    Function: Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with
    the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet
    function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by
    pathogenic bacteria

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005083small GTPase regulator activity TAS8625410
    GO:0005515protein binding IPI10202051
    GO:0042802identical protein binding IPI10724160
         
    Find genes that share ontologies with WAS           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Was):
     cellular  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  renal/urinary system  skeleton  tumorigenesis 

    Find genes that share phenotypes with WAS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for WAS: Wastm1Sbs Wastm1Kas

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WAS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for WAS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WAS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WAS

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate WAS:
    hsa-miR-548c-3p hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidWAS 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat WAS

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: WAS (NM_000377)
    Sino Biological Human cDNA Clone for WAS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WAS
    Addgene plasmids for WAS 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS


    (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 UniProtKB/Swiss-Prot
    WASP_HUMAN, P42768: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    plasma membrane2
    endosome1
    extracellular1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0012506vesicle membrane IEA--
    GO:0015629actin cytoskeleton TAS8625410
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with WAS           About GenesLikeMe


    (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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    SuperPaths for WAS About   (see all 29)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Development Slit Robo signaling
    Pathogenic Escherichia coli infection0.43
    Pathogenic Escherichia coli infection0.41
    3Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    4PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation and Branching0.66
    CDC42 Pathway0.41


    Find genes that share SuperPaths with WAS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for WAS (see all 13)
        Sertoli-Sertoli Cell Junction Dynamics
    CDC42 Pathway
    CD28 Signaling in T-Helper Cell
    Tec Kinases Signaling
    Transendothelial Migration of Leukocytes

    1 Cell Signaling Technology (CST) Pathway for WAS
        Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for WAS (see all 6)
        Cytoskeleton remodeling Integrin outside-in signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Cytoskeleton remodeling CDC42 in cellular processes
    Immune response CCR3 signaling in eosinophils
    Immune response CD16 signaling in NK cells

    Selected BioSystems Pathways for WAS (see all 6)
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    B Cell Receptor Signaling Pathway
    TCR Signaling Pathway
    Pathogenic Escherichia coli infection


    2 Reactome Pathways for WAS
        Regulation of actin dynamics for phagocytic cup formation
    Generation of second messenger molecules


    Selected Kegg Pathways  (Kegg details for WAS) (see all 8):
        Chemokine signaling pathway
    Adherens junction
    Fc gamma R-mediated phagocytosis
    Regulation of actin cytoskeleton
    Bacterial invasion of epithelial cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including WAS: 
              Cytoskeleton Regulators in human mouse rat
              Adherens Junctions in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for WAS

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

    Selected Interacting proteins for WAS (P427681, 2, 3 ENSP000003658914) via UniProtKB, MINT, STRING, and/or I2D (see all 264)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGRP097692, 3, ENSP000003631154MINT-13728 I2D: score=4 STRING: ENSP00000363115
    HCKP086311, 3, ENSP000003650124EBI-346375,EBI-346340 I2D: score=4 STRING: ENSP00000365012
    PTPN12Q052092, 3, ENSP000002485944MINT-50152 I2D: score=4 STRING: ENSP00000248594
    GAS7O608612, 3, ENSP000003226084MINT-72917 I2D: score=3 STRING: ENSP00000322608
    CDC42P609531, 2, 3, ENSP000003144584EBI-346375,EBI-81752 MINT-13944 MINT-13945 MINT-25018 I2D: score=9 STRING: ENSP00000314458
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    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS8625410
    GO:0006952defense response TAS8069912
    GO:0006955immune response IMP8069912
    GO:0007015actin filament organization ----
    GO:0007596blood coagulation TAS8069912

    Find genes that share ontologies with WAS           About GenesLikeMe



    (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 WAS (WASP)

    1 DrugBank Compound for WAS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (S)-Wiskostatin-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for WAS gene (see all 19)    About this table
    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)



    Find genes that share compounds with WAS           About GenesLikeMe



    (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 WAS gene: 
    NM_000377.2  

    Unigene Cluster for WAS:

    Wiskott-Aldrich syndrome
    Hs.2157  [show with all ESTs]
    Unigene Representative Sequence: NM_000377
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450772 ENST00000376701(uc004dkm.4) ENST00000465982 ENST00000483750
    ENST00000490627 ENST00000474174 ENST00000470107
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate WAS:
    hsa-miR-548c-3p hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidWAS 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WAS
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      QuantiTect SYBR Green Assays in human, mouse, rat WAS
      QuantiFast Probe-based Assays in human, mouse, rat WAS

    Additional mRNA sequence: 

    BC002961.1 BC012738.2 U12707.1 U19927.1 

    5 DOTS entries:

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

    Selected AceView cDNA sequences (see all 111):

    CA427815 BQ060937 BM849088 AA312206 BM819869 BM563924 BC002961 BI766599 
    BX283433 BQ012196 BM802845 CR591854 CR605612 BE270046 BM458492 BC012738 
    BI764081 AA825986 H61193 CR605854 BQ055374 U19927 AW574817 BM457502 

    GeneLoc Exon Structure

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

    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:                                                                                                                  


    ECgene alternative splicing isoforms for WAS

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


    WAS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Veins
     
     Endothelium (Cardiovascular System)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    WAS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WAS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2157

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including WAS: 
              Cytoskeleton Regulators in human mouse rat
              Adherens Junctions in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat WAS
    In Situ
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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 and fungi.

    Orthologs for WAS gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Was1 , 5 Wiskott-Aldrich syndrome homolog (human)1, 5 87.01(n)1
    92.15(a)1
      X (3.65 cM)5
    223761  NM_009515.21  NP_033541.11 
     80814535 
    lizard
    (Anolis carolinensis)
    Reptilia WAS6
    Wiskott-Aldrich syndrome
    61(a)
    1 ↔ 1
    2(69469801-69503616)
    zebrafish
    (Danio rerio)
    Actinopterygii wasa1 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) more 57.31(n)
    54.63(a)
      571256  XM_694827.5  XP_699919.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta WASp3 sensory organ development actin binding 37(a)   98E5   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAS17(YOR181W)4 Actin assembly factor, activates the Arp2/3 protein more   --   15(675939-677840) 854353  NP_014824.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WAS gene
    WASL2  
    2 SIMAP similar genes for WAS using alignment to 2 protein entries:     WASP_HUMAN (see all proteins):
    DKFZp779G0847    WASL

    Find genes that share paralogs with WAS           About GenesLikeMe



    (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 WAS (see all 189)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462202281,2,,4
    C,FWiskott-Aldrich syndrome (WAS)4 --48463899(+) CAGACG/AAGGAC 2 /K /E mis11Minor allele frequency- A:0.00NA 2976
    VAR_0081094
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0081092 F L mis40--------
    VAR_0127114
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0127112 G W mis40--------
    VAR_0058334
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0058332 W C mis40--------
    VAR_0058324
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0058322 R C mis40--------
    VAR_0332574
    Thrombocytopenia 1 (THC1)4--see VAR_0332572 I N mis40--------
    VAR_0058274
    Thrombocytopenia 1 (THC1)4--see VAR_0058272 A V mis40--------
    VAR_0058294
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0058292 S P mis40--------
    VAR_0081074
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0081072 C R mis40--------
    VAR_0081104
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0081102 G D mis40--------

    HapMap Linkage Disequilibrium report for WAS (48534985 - 48549818 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for WAS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528292CNV Gain19592680
    esv32909CNV Gain+Loss17666407

    Human Gene Mutation Database (HGMD): WAS
    Locus Specific Mutation Databases (LSDB): WAS

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300392    OMIM disorders: --

    UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
  • Wiskott-Aldrich syndrome (WAS) [MIM:301000]: An X-linked recessive immunodeficiency characterized by
    eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Thrombocytopenia 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Neutropenia, severe congenital, X-linked (XLN) [MIM:300299]: A disorder of hematopoiesis characterized by
    maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil
    counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for WAS:    
    About MalaCards
    thrombocytopenia    x-linked thrombocytopenia    was-related disorders    thrombocytopenia, x-linked, intermittent
    severe congenital neutropenia x-linked    wiskott-aldrich syndrome    laryngostenosis    intussusception
    primary immunodeficiency disease    severe congenital neutropenia    thrombotic thrombocytopenic purpura    neutropenia

    3 diseases from the University of Copenhagen DISEASES database for WAS:
    Wiskott-Aldrich syndrome     Thrombocytopenia     Primary immunodeficiency disease

    Find genes that share disorders with WAS           About GenesLikeMe

    Selected Novoseek inferred disease relationships for WAS gene (see all 21)    About this table

    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)

    GeneTests: WAS
    GeneReviews: WAS
    Genetic Association Database (GAD): WAS
    Human Genome Epidemiology (HuGE) Navigator: WAS (0 documents)

    Export disorders for WAS 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 WAS gene, integrated from 10 sources (see all 431):
    (articles sorted by number of sources associating them with WAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PubMed id 7795648)1, 2, 3, 9 Villa A.... Vezzoni P. (Nat. Genet. 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, 9 Kolluri R.... Siminovitch K.A. (Hum. Mol. Genet. 1995)
    3. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. (PubMed id 9713366)1, 2, 9 Facchetti F.... Nelson D.L. (J. Pathol. 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, 9 Cory G.O.... Ridley A.J. (J. Biol. Chem. 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, 9 Hagemann T.L. and Kwan S.-P. (Biochem. Biophys. Res. Commun. 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, 9 Cory G.O.C.... Ridley A.J. (Mol. Cell 2003)
    7. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)1, 2, 9 Devriendt K.... Vandenberghe P. (Nat. Genet. 2001)
    8. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PubMed id 9126958)1, 2, 9 Remold-O'Donnell E.... Rosen F.S. (J. Immunol. 1997)
    9. Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein. (PubMed id 10360578)1, 2, 9 Abdul-Manan N.... Rosen M.K. (Nature 1999)
    10. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PubMed id 9405671)1, 2, 9 Ramesh N.... Geha R.S. (Proc. Natl. Acad. Sci. U.S.A. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 7454 HGNC: 12731 AceView: WAS Ensembl:ENSG00000015285 euGenes: HUgn7454
    ECgene: WAS Kegg: 7454 H-InvDB: WAS

    (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)
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    NameDescription
    PharmGKB entry for WAS Pharmacogenomics, SNPs, Pathways
    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/books/NBK1116/?term=WAS[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein

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

    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
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