WAS Gene
protein-coding GIFtS : 71
GCID: GC0X P048534
Wiskott-Aldrich syndrome (Previous names: thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome... ) (Previous symbols: IMD2, THC )
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Aliasesfor WAS gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Wiskott-Aldrich Syndrome 1 2 Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia)1 IMD21 2 3 5 SCNX2 THC1 2 Eczema-Thrombocytopenia1 WASP1 2 Wiskott-Aldrich Syndrome Protein2 Thrombocytopenia 1 (X-Linked)1 2 WASp3 THC12 5
Export aliases for WAS gene to outside databases Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298 GC0XP048427 GC0XP046204
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Summariesfor WAS gene (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 : 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) UniProtKB/Swiss-Prot: WASP_HUMAN, P42768 Function : Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with theArp2/3 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)
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Genomic Viewsfor WAS 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000023.10 NC_018934.1 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 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) 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
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Proteinsfor WAS gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
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 kinaseFGR, 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 Q9UNJ9Explore the universe of human proteins at neXtProt for WAS: NX_P42768 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
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P42768 WAS Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000368.1 ENSEMBL proteins: ENSP00000410537 ENSP00000365891 Reactome Protein details: P42768 Human Recombinant Protein Products: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
WAS for ontologies About GeneDecksing WAS Antibody Products: Assay Products for WAS:
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Protein
Domains / Familiesfor WAS gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
WAS for domains About GeneDecksing 5 InterPro domains/families :
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 ligandDomain : The CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited stateof the protein. Binding of Rho-type GTPases to the CRIB induces a conformation change and leads to activation Similarity : Contains 1 CRIB domainSimilarity : Contains 1 WH1 domainSimilarity : Contains 1 WH2 domain
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Functionfor WAS gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: WASP_HUMAN, P42768 Function : Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with theArp2/3 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
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for WAS (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for WASOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: WAS (NM_000377 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WAS Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat WAS
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
WAS for ontologies About GeneDecksing Animal Models: Mouse knock-outs for WAS: Was tm1Sbs Was tm1Kas 9 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Was) :
WAS for phenotypes About GeneDecksing
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Pathways & Interactionsfor WAS gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/29 super-pathways (see all 29 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Regulation of actin dynamics for phagocytic cup formation 2 Immune response CD16 signaling in NK cells 3 Cell adhesion_Integrin-mediated cell adhesion and migration 4 Immune System 5 Immune response _CCR3 signaling in eosinophils
Pathway sources See GeneCards unified pathways Show all pathways 5/6 EMD Millipore Pathways for WAS (see all 6 )5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for WAS (see all 13 )1
Cell Signaling Technology (CST) Pathway for WAS 5/6 GeneGo (Thomson Reuters) Pathways for WAS (see all 6 )5/6 BioSystems Pathways for WAS (see all 6 ) 5/9
Reactome Pathways for WAS (see all 9 )5/7
Kegg Pathways (Kegg details for WAS) (see all 7 ):
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)5/103 Interacting proteins for WAS (P42768 1 , 2 , 3 ENSP00000365891 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 103 )Interactant Interaction Details GeneCard External ID(s) FYN P06241 2 , 3 , ENSP00000357656 4 MINT-50146 MINT-50144 MINT-14847 MINT-50145 I2D:
score=4 STRING: ENSP00000357656 WIPF1 O43516 1 , 3 , ENSP00000352802 4 EBI-346375,EBI-346356 I2D:
score=5 STRING: ENSP00000352802 HCK P08631 1 , 3 , ENSP00000365012 4 EBI-346375,EBI-346340 I2D:
score=4 STRING: ENSP00000365012 PTPN12 Q05209 2 , 3 , ENSP00000248594 4 MINT-50152 I2D:
score=4 STRING: ENSP00000248594 GAS7 O60861 2 , 3 , ENSP00000322608 4 MINT-72917 I2D:
score=3 STRING: ENSP00000322608
About this table Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11 ): About this table
WAS for ontologies About GeneDecksing
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Drugs & Compoundsfor WAS gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , 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 Tocris compounds for WAS 1 DrugBank Compound for WAS About this table 10/19 Novoseek 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
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Transcriptsfor WAS gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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 ,
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 ,
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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for WAS (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for WASOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: WAS (NM_000377 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WAS Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat WAS
Additional cDNA 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 ):
BM802845 BI766599 BM849088 BC012738 AA825986 BC002961 BM563924 BQ060937 BI764081 BQ012196 AA312206 CR605612 BE270046 CA427815 BM458492 AW574817 BM819869 U19927 BX283433 BQ055374 H61193 CR591854 CR605854 BM562377 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
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Expression for WAS gene
(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) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCTCCCCCTC
About this image WAS expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 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 SABiosciences Expression via Pathway-Focused 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 Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for WASBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat WAS QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat WAS QIAGEN QuantiFast Probe-based Assays in human , mouse , rat WAS In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS
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Orthologsfor WAS gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for WAS gene from 7/21 species (see all 21 ) About this table
ENSEMBL Gene Tree for WAS (if available)TreeFam Gene Tree for WAS (if available)
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Paralogsfor WAS gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for WAS gene WASL 2 WASF2 2 WASF3 2 WASF1 2 2 SIMAP similar genes for WAS using alignment to 2 protein entries: WASP_HUMAN (see all proteins ):DKFZp779G0847 WASL
WAS for paralogs About GeneDecksing
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Genomic Variantsfor WAS gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for WAS (48534985 - 48549818 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for WAS 1 CNV : 7789 Human Gene Mutation Database (HGMD) : WAS Locus Specific Mutation Databases (LSDB): WAS SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing WAS
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Disorders
/ Diseasesfor WAS gene
(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 .)
About This Section
WAS for disorders About GeneDecksing OMIM gene information: 300392 OMIM disorders : 301000 313900 300299 UniProtKB/Swiss-Prot: WASP_HUMAN, P42768
Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10 Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:313900]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting Defects in WAS are a cause of neutropenia severe congenital X-linked (XLN) [MIM:300299]. XLN is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia 20/23 diseases for WAS (see all 23 ): About MalaCards wiskott-aldrich syndrome thrombocytopenia, x-linked thrombocytopenia thrombocytopenia, x-linked, intermittent eczema severe congenital neutropenia neutropenia agammaglobulinemia intussusception inflammatory bowel disease burkitt's lymphoma ulcerative colitis shigellosis protein s deficiency diarrhea gout vaccinia immunodeficiency pancreatic cancer pancreatitis 3 diseases from the University of Copenhagen DISEASES database for WAS :Wiskott-Aldrich syndrome Thrombocytopenia Primary immunodeficiency disease 10/21 Novoseek 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 WAS-Related Disorders Genetic Association Database (GAD): WAS Human Genome Epidemiology (HuGE) Navigator: WAS (0 documents) Export disorders for WAS gene to outside databases
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Publicationsfor WAS gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for WAS gene, integrated from 9 sources (see all 421 ): (articles sorted by number of sources associating them with WAS) Utopia : connect your pdf to the dynamic world of online information
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) 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) 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) 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) 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) 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) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115) 1 , 2 , 9 Devriendt K.... Vandenberghe P. (2001) 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) 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) 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)
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External Searches for WAS gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing WAS gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing WAS gene
(According to HUGE )
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Specialized Databases showing WAS gene (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
Name Description
PharmGKB entry for WAS Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for WAS Genetics and Cytogenetics in Oncology and Haematology WASbase http://bioinf.uta.fi/WASbase/ WASPbase http://homepage.mac.com/kohsukeimai/wasp/WASPbase.html GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WAS Wikipedia http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein
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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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Productsfor WAS gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for WAS OriGene shRNA RFP for WAS OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for WAS OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for WAS OriGene Protein Over-expression Lysate for WAS Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for WAS OriGene 3'-UTR Clone for WAS OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for WAS OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for WAS Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for WAS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for WAS OriGene Custom Protein Services for WAS OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat WAS QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing WAS QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat WAS QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat WAS QIAGEN QuantiFast Probe-based Assays in human , mouse , rat WAS QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat WAS
Antibodies & Assays for WAS   (WASP)
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WAS Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS
ThermoFisher Antibodies for WAS
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat WAS
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