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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
  • Wiskott-Aldrich Syndrome Protein 3
  • 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 ICos-ICosL Pathway in T-Helper Cell and Sertoli-Sertoli Cell Junction Dynamics. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG048933 2 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +261.9 261905 9.7 HDGF FOXA2 PKNOX1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 PQBP1 WAS OTUD5 SLC35A2 TIMM17B PIM2 TBC1D25 ENSG00000204620 ENSG00000228343 FOXP3
GH0XG048648 1 Ensembl ENCODE 13.9 -27.5 -27456 1.5 CTCF ESRRA ATF1 FOXA2 NFRKB JUN FEZF1 ZBTB40 RAD21 FOSL1 WAS SUV39H1 ENSG00000204620 HDAC6 EBP PIR50087 VN1R110P
GH0XG048700 0.8 ENCODE 14.1 +25.1 25089 2.7 HDAC1 KLF1 TBL1XR1 TAL1 SIN3A MAX TCF12 ZNF316 NCOR1 EGR1 WAS GLOD5 SUV39H1 RNU6-1056P GC0XM048725
GH0XG048704 0.7 ENCODE 14.1 +27.9 27934 1.0 BCOR CTCF JUN ZNF384 ZNF664 CTBP1 NFYB FOSL2 FOS ZNF600 WAS GLOD5 SUV39H1 GC0XM048725 RNU6-1056P
GH0XG048916 1.7 FANTOM5 ENCODE dbSUPER 5.7 +243.2 243170 5.6 HNRNPUL1 FOXA2 PKNOX1 AGO1 WRNIP1 ARID4B SIN3A ZNF2 ZBTB7B ZNF143 ENSG00000204620 PQBP1 PIM2 OTUD5 WAS ENSG00000228343 TBC1D25 GRIPAP1 PPP1R3F ENSG00000279155
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000246498 -96 1801 HDGF ATF1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 TCF12 GLIS2

Genomic Location for WAS Gene

48,676,596 bp from pter
48,691,427 bp from pter
14,832 bases
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:
    Recommended name:
    Wiskott-Aldrich syndrome protein
    Protein Accession:
    Secondary Accessions:
    • Q9BU11
    • Q9UNJ9

    Protein attributes for WAS Gene

    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).
    • Sequence=AAH02961.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH02961.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WAS Gene

neXtProt entry for WAS Gene

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 Lys76, posLast=144144, and posLast=147147
  • Modification sites at PhosphoSitePlus

Other Protein References for WAS Gene

Antibody Products

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

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



  • The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand.
  • 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.
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:0003779 actin binding IEA --
GO:0005515 protein binding IPI 8892607
GO:0017124 SH3 domain binding IPI 8892607
GO:0019901 protein kinase binding IPI 8892607
GO:0030695 GTPase regulator activity TAS 8625410
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WAS gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 2
endosome 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for WAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 8625410
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with WAS: view

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:0002625 regulation of T cell antigen processing and presentation IMP 22804504
GO:0006461 protein complex assembly TAS 8625410
GO:0006952 defense response TAS 8069912
GO:0006955 immune response IMP 8069912
GO:0007015 actin filament organization IEA --
genes like me logo Genes that share ontologies with WAS: view

Drugs & Compounds for WAS Gene

(12) 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

(8) 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for WAS

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

Relevant External Links for WAS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WAS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for WAS Gene

Protein tissue co-expression partners for WAS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WAS Gene:


SOURCE GeneReport for Unigene cluster for WAS Gene:


mRNA Expression by UniProt/SwissProt for WAS Gene:

Tissue specificity: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.

Evidence on tissue expression from TISSUES for WAS Gene

  • Blood(4.7)
  • Liver(4.2)
  • Spleen(2.8)
  • Lymph node(2.7)
  • Bone marrow(2.5)
  • Intestine(2.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WAS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • face
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
  • bronchus
  • esophagus
  • lung
  • trachea
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • anus
  • ureter
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with WAS: view

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
(Canis familiaris)
Mammalia WAS 34 35
  • 89.91 (n)
(Mus musculus)
Mammalia Was 34 16 35
  • 87.01 (n)
(Rattus norvegicus)
Mammalia Was 34
  • 86.43 (n)
(Monodelphis domestica)
Mammalia WAS 35
  • 64 (a)
(Bos Taurus)
Mammalia WAS 35
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia WAS 35
  • 59 (a)
(Anolis carolinensis)
Reptilia WAS 35
  • 61 (a)
(Danio rerio)
Actinopterygii wasa 34 35
  • 57.31 (n)
wasb 35
  • 52 (a)
WAS (3 of 3) 35
  • 31 (a)
fruit fly
(Drosophila melanogaster)
Insecta WASp 36 35
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAS17 35 37
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5291 35
  • 39 (a)
Species where no ortholog for WAS was found in the sources mined by GeneCards:
  • 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

Gene Tree for WAS (if available)
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
rs132630268 Pathogenic, Wiskott-Aldrich syndrome (WAS) [MIM:301000], Wiskott-Aldrich syndrome (WAS) [MIM:301000] 48,684,407(+) CATCC(A/G/T)CCTTT reference, missense
rs132630269 Pathogenic, Thrombocytopenia 1 (THC1) [MIM:313900] 48,684,317(+) CCTGG(C/T)GCTGC reference, missense
rs132630272 Pathogenic, Wiskott-Aldrich syndrome (WAS) [MIM:301000] 48,684,394(+) AGAAG(C/T)CCTAC reference, missense
rs132630273 Pathogenic, Thrombocytopenia 1 (THC1) [MIM:313900], Wiskott-Aldrich syndrome (WAS) [MIM:301000] 48,684,284(+) CCAGA(C/T)GCTGG reference, missense
rs132630276 Pathogenic, Thrombocytopenia 1 (THC1) [MIM:313900] 48,689,423(+) AGCCA(A/T)CCACT reference, missense

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for WAS Gene

MalaCards: The human disease database

(14) 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
- elite association - COSMIC cancer census association via MalaCards
Search WAS in MalaCards View complete list of genes associated with diseases


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

No data available for Genatlas for WAS Gene

Publications for WAS Gene

  1. Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation. (PMID: 15235593) Peterson J.R. … Rosen M.K. (Nat. Struct. Mol. Biol. 2004) 3 4 22 64
  2. Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP. (PMID: 12769847) Cory G.O.C. … Ridley A.J. (Mol. Cell 2003) 3 4 22 64
  3. Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott- Aldrich Syndrome protein. (PMID: 12235133) Cory G.O. … Ridley A.J. (J. Biol. Chem. 2002) 3 4 22 64
  4. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PMID: 11242115) Devriendt K. … Vandenberghe P. (Nat. Genet. 2001) 3 4 22 64
  5. The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. (PMID: 10066431) Hagemann T.L. … Kwan S.-P. (Biochem. Biophys. Res. Commun. 1999) 3 4 22 64

Products for WAS Gene

  • Addgene plasmids for WAS

Sources for WAS Gene

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