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Aliases for WAS Gene

Aliases for WAS Gene

  • Wiskott-Aldrich Syndrome 2 3
  • IMD2 3 4 6
  • Thrombocytopenia 1 (X-Linked) 2 3
  • Eczema-Thrombocytopenia 2 3
  • WASP 3 4
  • SCNX 3 6
  • THC1 3 6
  • Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia) 2
  • Wiskott-Aldrich Syndrome Protein 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 Regulation of actin cytoskeleton and Regulation of actin cytoskeleton. GO annotations related to this gene include identical protein 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

Genomic Location for WAS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys76, Lys144, and Lys147
  • Modification sites at PhosphoSitePlus

Other Protein References for WAS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for WAS Gene

Domains for WAS Gene

Protein Domains for WAS Gene

Suggested Antigen Peptide Sequences for WAS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P42768

UniProtKB/Swiss-Prot:

WASP_HUMAN :
  • P42768
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

No data available for Gene Families for WAS Gene

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 10202051
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

Animal Models for WAS Gene

MGI Knock Outs for WAS:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
nucleus 3
plasma membrane 2
endosome 1
extracellular 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for WAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005911 cell-cell junction IEA --
GO:0012506 vesicle membrane IEA --
GO:0015629 actin cytoskeleton TAS 8625410
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with WAS: view

Pathways for WAS Gene

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

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 --
genes like me logo Genes that share ontologies with WAS: view

Compounds for WAS Gene

(1) Drugbank Compounds for WAS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(S)-Wiskostatin
target

(19) Novoseek inferred chemical compound relationships for WAS Gene

Compound -log(P) Hits PubMed IDs
wiskostatin 88.9 2
pip2 56 5
tyrosine 47.6 53
calpeptin 37.8 2
proline 34.3 5
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 (33.1) and Spleen (4.5).

Integrated Proteomics: protein expression 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 expressions with WAS: view

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
cow
(Bos Taurus)
Mammalia WAS 36
  • 59 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia WAS 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WAS 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Was 35
  • 86.43 (n)
  • 91.53 (a)
lizard
(Anolis carolinensis)
Reptilia WAS 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii WAS (3 of 3) 36
  • 31 (a)
OneToMany
wasa 35
  • 57.31 (n)
  • 54.63 (a)
wasa 36
  • 33 (a)
OneToMany
wasb 36
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta WASp 36
  • 33 (a)
OneToMany
WASp 37
  • 37 (a)
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

Selected 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 MAF
rs192092 -- 48,682,855(+) gtgcc(A/C)ccgca upstream-variant-2KB
rs235422 -- 48,683,512(+) AGCCC(C/T)GCACA upstream-variant-2KB
rs235423 -- 48,686,261(+) CGAGC(A/G)GGTGC intron-variant
rs2735860 -- 48,690,607(+) tcttg(C/G)tctgt intron-variant
rs2737796 -- 48,686,211(+) ggtgc(C/G)taagt intron-variant

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

Relevant External Links for WAS Gene

HapMap Linkage Disequilibrium report
WAS
Human Gene Mutation Database (HGMD)
WAS
Locus Specific Mutation Databases (LSDB)
WAS

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

Disorders for WAS Gene

(3) OMIM Diseases for WAS Gene (300392)

UniProtKB/Swiss-Prot

WASP_HUMAN
  • 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.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for WAS Gene

(21) Novoseek inferred disease relationships for WAS Gene

Disease -log(P) Hits PubMed IDs
wiskott-aldrich syndrome 99 140
thrombocytopenia 1 94.8 28
scar1 90.7 20
neutropenia, severe congenital, x-linked 90 3
eczema 82.4 9

Relevant External Links for WAS

GeneTests
WAS
GeneReviews
WAS
Genetic Association Database (GAD)
WAS
Human Genome Epidemiology (HuGE) Navigator
WAS
genes like me logo Genes that share disorders with WAS: view

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 23
  2. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. (PMID: 8528198) Kolluri R. … Siminovitch K.A. (Hum. Mol. Genet. 1995) 3 4 23
  3. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (PMID: 8528199) Derry J.M.J. … Francke U. (Hum. Mol. Genet. 1995) 3 4 23
  4. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PMID: 9126958) Remold-O'Donnell E. … Rosen F.S. (J. Immunol. 1997) 3 4 23
  5. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PMID: 9405671) Ramesh N. … Geha R.S. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23

Products for WAS Gene

  • Addgene plasmids for WAS

Sources for WAS Gene

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