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Aliases for WAS Gene

Aliases for WAS Gene

  • Wiskott-Aldrich Syndrome 2 3 5
  • Thrombocytopenia 1 (X-Linked) 2 3
  • Eczema-Thrombocytopenia 2 3
  • WASP 3 4
  • IMD2 3 4
  • Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia) 2
  • WASPA 3
  • SCNX 3
  • THC1 3
  • THC 3

External Ids for WAS Gene

Previous HGNC Symbols for WAS Gene

  • IMD2
  • THC

Previous GeneCards Identifiers for WAS Gene

  • GC0XP047344
  • GC0XP046802
  • GC0XP047588
  • GC0XP048298
  • GC0XP048427
  • GC0XP048534
  • GC0XP046204

Summaries for WAS Gene

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 Neutropenia, Severe Congenital, X-Linked. Among its related pathways are Bacterial invasion of epithelial cells and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is WASL.

UniProtKB/Swiss-Prot for WAS Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WAS Gene

Genomics for WAS Gene

Regulatory Elements for WAS Gene

Enhancers for WAS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WAS on UCSC Golden Path with GeneCards custom track

Promoters for WAS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WAS on UCSC Golden Path with GeneCards custom track

Genomic Location for WAS Gene

Chromosome:
X
Start:
48,676,596 bp from pter
End:
48,691,427 bp from pter
Size:
14,832 bases
Orientation:
Plus strand

Genomic View for WAS Gene

Genes around WAS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WAS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WAS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WAS Gene

Proteins for WAS Gene

  • Protein details for WAS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42768-WASP_HUMAN
    Recommended name:
    Wiskott-Aldrich syndrome protein
    Protein Accession:
    P42768
    Secondary Accessions:
    • Q9BU11
    • Q9UNJ9

    Protein attributes for WAS Gene

    Size:
    502 amino acids
    Molecular mass:
    52913 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAH02961.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WAS Gene

neXtProt entry for WAS Gene

Proteomics data for WAS Gene at MOPED

Post-translational modifications for WAS Gene

  • 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.
  • Ubiquitination at Lys 76, Lys 144, and Lys 147
  • Modification sites at PhosphoSitePlus

Other Protein References for WAS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for WAS (WASP)
  • Abcam antibodies for WASP

No data available for DME Specific Peptides for WAS Gene

Domains & Families for WAS Gene

Gene Families for WAS Gene

Protein Domains for WAS Gene

Suggested Antigen Peptide Sequences for WAS Gene

Graphical View of Domain Structure for InterPro Entry

P42768

UniProtKB/Swiss-Prot:

WASP_HUMAN :
  • The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand.
Domain:
  • The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand.
  • 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.
  • Contains 1 CRIB domain.
  • Contains 1 WH1 domain.
  • Contains 1 WH2 domain.
genes like me logo Genes that share domains with WAS: view

Function for WAS Gene

Molecular function for WAS Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for WAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043274 phospholipase binding IPI 8892607
genes like me logo Genes that share ontologies with WAS: view
genes like me logo Genes that share phenotypes with WAS: view

Human Phenotype Ontology for WAS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WAS Gene

MGI Knock Outs for WAS:

Animal Model Products

miRNA for WAS Gene

miRTarBase miRNAs that target WAS

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WAS Gene

Localization for WAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for WAS Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WAS Gene COMPARTMENTS Subcellular localization image for WAS gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 4
endosome 2
plasma membrane 2
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for WAS Gene

Pathways & Interactions for WAS Gene

genes like me logo Genes that share pathways with WAS: view

SIGNOR curated interactions for WAS Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for WAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response TAS 8069912
GO:0006955 immune response IMP 8069912
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0008154 actin polymerization or depolymerization IEA,TAS 8625410
GO:0008544 epidermis development TAS 8069912
genes like me logo Genes that share ontologies with WAS: view

Drugs & Compounds for WAS Gene

(8) Drugs for WAS Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(S)-Wiskostatin Experimental Pharma Target 0

(12) Additional Compounds for WAS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WAS: view

Transcripts for WAS Gene

Unigene Clusters for WAS Gene

Wiskott-Aldrich syndrome:
Representative Sequences:

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

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:

Relevant External Links for WAS Gene

GeneLoc Exon Structure for
WAS
ECgene alternative splicing isoforms for
WAS

Expression for WAS Gene

mRNA expression in normal human tissues for WAS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WAS Gene

This gene is overexpressed in Whole Blood (x33.1) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for WAS Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.9), Lymph node (12.6), and Blymphocyte (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WAS Gene



SOURCE GeneReport for Unigene cluster for WAS Gene Hs.2157

mRNA Expression by UniProt/SwissProt for WAS Gene

P42768-WASP_HUMAN
Tissue specificity: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.
genes like me logo Genes that share expression patterns with WAS: view

Protein tissue co-expression partners for WAS Gene

- Elite partner

Primer Products

Orthologs for WAS Gene

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

Orthologs for WAS Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia WAS 35
  • 89.91 (n)
  • 91.9 (a)
WAS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Was 35
  • 87.01 (n)
  • 92.15 (a)
Was 16
Was 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Was 35
  • 86.43 (n)
  • 91.53 (a)
cow
(Bos Taurus)
Mammalia WAS 36
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WAS 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WAS 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WAS 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wasa 35
  • 57.31 (n)
  • 54.63 (a)
WAS (3 of 3) 36
  • 31 (a)
OneToMany
wasa 36
  • 33 (a)
OneToMany
wasb 36
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta WASp 37
  • 37 (a)
WASp 36
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAS17 36
  • 18 (a)
OneToMany
LAS17 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5291 36
  • 39 (a)
OneToMany
Species with no ortholog for WAS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WAS Gene

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

Paralogs for WAS Gene

Paralogs for WAS Gene

(2) SIMAP similar genes for WAS Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with WAS: view

Variants for WAS Gene

Sequence variations from dbSNP and Humsavar for WAS Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_005823 Thrombocytopenia 1 (THC1)
VAR_005825 Wiskott-Aldrich syndrome (WAS)
VAR_005826 Thrombocytopenia 1 (THC1)
VAR_005827 Thrombocytopenia 1 (THC1)
VAR_005828 Thrombocytopenia 1 (THC1)

Structural Variations from Database of Genomic Variants (DGV) for WAS Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV Gain+Loss 17666407
nsv528292 CNV Gain 19592680

Variation tolerance for WAS Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WAS Gene

Human Gene Mutation Database (HGMD)
WAS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WAS Gene

Disorders for WAS Gene

MalaCards: The human disease database

(12) MalaCards diseases for WAS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
neutropenia, severe congenital, x-linked
  • severe congenital neutropenia x-linked
thrombocytopenia, x-linked
  • thrombocytopenia, x-linked, intermittent
was-related disorders
thrombocytopenia
- elite association - COSMIC cancer census association via MalaCards
Search WAS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WASP_HUMAN
  • 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. {ECO:0000269 PubMed:11242115}. 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. {ECO:0000269 PubMed:10447259, ECO:0000269 PubMed:11167787, ECO:0000269 PubMed:11877312, ECO:0000269 PubMed:7795648, ECO:0000269 PubMed:8528199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10447259, ECO:0000269 PubMed:11793485, ECO:0000269 PubMed:7753869, ECO:0000269 PubMed:8528198, ECO:0000269 PubMed:8528199, ECO:0000269 PubMed:8682510, ECO:0000269 PubMed:9098856, ECO:0000269 PubMed:9126958, ECO:0000269 PubMed:9445409, ECO:0000269 PubMed:9683546, ECO:0000269 PubMed:9713366}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WAS

Genetic Association Database (GAD)
WAS
Human Genome Epidemiology (HuGE) Navigator
WAS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WAS
genes like me logo Genes that share disorders with WAS: view

No data available for Genatlas for WAS Gene

Publications for WAS Gene

  1. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PMID: 7795648) Villa A. … Vezzoni P. (Nat. Genet. 1995) 2 3 4 67
  2. Src kinase Hck association with the WASp and mDia1 cytoskeletal regulators promotes chemoattractant-induced Hck membrane targeting and activation in neutrophils. (PMID: 19234535) Shi Y. … Siminovitch K.A. (Biochem. Cell Biol. 2009) 3 23
  3. The mechanism of CSF-1-induced Wiskott-Aldrich syndrome protein activation in vivo: a role for phosphatidylinositol 3-kinase and Cdc42. (PMID: 19561083) Cammer M. … Cox D. (J. Biol. Chem. 2009) 3 23
  4. Regulation of podosome dynamics by WASp phosphorylation: implication in matrix degradation and chemotaxis in macrophages. (PMID: 19808890) Dovas A. … Cox D. (J. Cell. Sci. 2009) 3 23
  5. Structure-function analysis of the WIP role in T cell receptor-stimulated NFAT activation: evidence that WIP-WASP dissociation is not required and that the WIP NH2 terminus is inhibitory. (PMID: 17711847) Dong X. … Shaw S. (J. Biol. Chem. 2007) 3 23

Products for WAS Gene

Sources for WAS Gene

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