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

WAS Gene

protein-coding   GIFtS: 71
GCID: GC0XP048534

Wiskott-Aldrich Syndrome

(Previous names: thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome...)
(Previous symbols: IMD2, THC)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

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

Aliases
Wiskott-Aldrich Syndrome1 2     Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia)1
IMD21 2 3 5     SCNX2
THC1 2     WASP2
Thrombocytopenia 1 (X-Linked)1 2     Wiskott-Aldrich Syndrome Protein2
eczema-thrombocytopenia1 2     WASp3
THC12 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 wiskott-aldrich syndrome, and thrombocytopenia, and among its related super-pathways are Regulation of actin cytoskeleton and Development Slit-Robo signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for WAS

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

UniProtKB/Swiss-Prot: 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)
Subcellular location: Cytoplasm, cytoskeleton
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:

  • UniProtKB: 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 formation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P42768

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

    WAS Protein Expression
    REFSEQ proteins: NP_000368.1  
    ENSEMBL proteins: 
     ENSP00000410537   ENSP00000365891  
    Reactome Protein details: P42768
    Human Recombinant Protein Products for WAS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for WAS
    OriGene Protein Over-expression Lysate for WAS
    OriGene MassSpec for WAS 
    OriGene Custom Protein Services for WAS
    GenScript Custom Purified and Recombinant Proteins Services for WAS
    Novus Biologicals WAS Protein
    Novus Biologicals WAS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0012506vesicle membrane IEA--
    GO:0015629actin cytoskeleton TAS8625410

    WAS for ontologies           About GeneDecksing



    WAS Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of WAS
    R&D Systems Antibodies for WAS (WASP)
    Cell Signaling Technology (CST) Antibodies for WAS  (WASP)
    OriGene Antibodies for WAS
    OriGene Custom Antibody Services for WAS
    GenScript Custom Superior Antibodies Services for WAS
    Novus Biologicals WAS Antibodies
    Abcam antibodies for WAS
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for WAS
    LSBio Antibodies in human, mouse, rat for WAS 

    Assay Products for WAS: 
    EMD Millipore Kits and Assays for the Analysis of WAS
    OriGene Custom Assay Services for WAS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for WAS
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR003124 WH2_dom
     IPR000095 PAK_box_Rho-bd
     IPR011993 PH_like_dom
     IPR000697 EVH1
     IPR011026 WASP_C

    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


    WAS for domains           About GeneDecksing


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

    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 (GO ID links to tree view):    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
         
    WAS for ontologies           About GeneDecksing


    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 

    WAS for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for WAS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WAS
    2 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for WAS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WAS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for WAS
    Sirion Biotech Customized adenovirus for overexpression of WAS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for WAS (see all 7)
    OriGene ORF clones in mouse, rat for WAS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Sirion Biotech Customized lentivirus for stable overexpression of WAS 
                         Customized lentivirus expression plasmids for stable overexpression of WAS 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for WAS
    Search LifeMap BioReagents cell lines for WAS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS


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

    SuperPaths for WAS About   (see all 30)                                                                                              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
    3Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56
    4Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    5PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD 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

    5/13 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/6 BioSystems Pathways for WAS (see all 6)
        G13 Signaling Pathway
    Regulation of Actin Cytoskeleton
    TCR Signaling Pathway
    B Cell Receptor Signaling Pathway
    Pathogenic Escherichia coli infection


    5/7        Reactome Pathways for WAS (see all 7)
        Regulation of actin dynamics for phagocytic cup formation
    Adaptive Immune System
    Fcgamma receptor (FCGR) dependent phagocytosis
    TCR signaling
    Generation of second messenger molecules


    5/8         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


    WAS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WAS

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

    5/105 Interacting proteins for WAS (P427681, 2, 3 ENSP000003658914) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-50146 MINT-50144 MINT-14847 MINT-50145 I2D: score=4 STRING: ENSP00000357656
    WIPF1O435161, 3, ENSP000003528024EBI-346375,EBI-346356 I2D: score=5 STRING: ENSP00000352802
    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
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    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

    WAS for ontologies           About GeneDecksing



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

    WAS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WAS (WASP)

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

    10/19 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)

    Search CenterWatch for drugs/clinical trials and news about WAS / WASP

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

    REFSEQ mRNAs for 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WAS
    2 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for WAS
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    Clone
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    OriGene clones in human, mouse for WAS (see all 7)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WAS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WAS
    Sirion Biotech Customized lentivirus for stable overexpression of WAS 
                         Customized lentivirus expression plasmids for stable overexpression of WAS 
    Primer
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    OriGene qPCR primer pairs and template standards for WAS
    OriGene qSTAR qPCR primer pairs in human, mouse for WAS
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WAS
      QIAGEN 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 

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

    BE270046 BC002961 H61193 BM458492 CR605854 BM819869 BX283433 BM563924 
    BC012738 BI766599 AA825986 AA312206 BQ012196 CR591854 CA427815 BQ060937 
    CR605612 AW574817 BM802845 BI764081 BQ055374 U19927 BM849088 BX387897 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WAS expression in normal human tissues (normalized intensities)      WAS embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 16 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Peripheral blood Pan-T Cells   
             neutrophils   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 4 entries
             Cord Blood Pan-T Cells   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Fetal Liver CD36+ Cells   

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

    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

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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)
    About This Section

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

    Orthologs for WAS gene from 6/10 species (see all 10)    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 85.5(n)1
    89.58(a)1
      X (3.65 cM)5
    223761  NM_009515.21  NP_033541.11 
     80814535 
    lizard
    (Anolis carolinensis)
    Reptilia WAS6
    Uncharacterized protein
    63(a)
    1 ↔ 1
    2(69469801-69503616)
    zebrafish
    (Danio rerio)
    Actinopterygii wasb1 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) more 60.43(n)
    60.57(a)
      335158  NM_199938.1  NP_956232.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta WASp3 sensory organ development actin binding 37(a)   98E5   --
    worm
    (Caenorhabditis elegans)
    Secernentea wsp-16
    Protein WSP-1, isoform a
    12(a)
    possible ortholog
    IV(8188902-8198951)
    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)
    About This Section
    Paralogs for WAS gene
    WASL2  
    2 SIMAP similar genes for WAS using alignment to 2 protein entries:     WASP_HUMAN (see all proteins):
    DKFZp779G0847    WASL

    WAS for paralogs           About GeneDecksing



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

    10/189 SNPs in WAS are shown (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
    ----------
    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--------
    VAR_0058354
    Wiskott-Aldrich syndrome (WAS)4--see VAR_0058352 E K 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300392   
    OMIM disorders: 301000  313900  300299  
    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

  • 20/25 diseases for WAS (see all 25):    About MalaCards
    wiskott-aldrich syndrome    thrombocytopenia    x-linked thrombocytopenia    was-related disorders
    eczema    thrombocytopenia, x-linked, intermittent    intussusception    primary immunodeficiency disease
    severe congenital neutropenia    neutropenia    agammaglobulinemia    shigellosis
    vaccinia    hematopoietic stem cell transplantation    protein s deficiency    gout
    diarrhea    burkitt's lymphoma    ulcerative colitis    inflammatory bowel disease

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

    WAS for disorders           About GeneDecksing

    10/21 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)
    About This Section

    PubMed articles for WAS gene, integrated from 9 sources (see all 428):
    (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. (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. (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. (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. (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. (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. (2003)
    7. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)1, 2, 9 Devriendt K.... Vandenberghe P. (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. (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. (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. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/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 LifeMap Sciences, Inc.)
    About This Section
    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



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