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WAS Gene(Protein Coding)

WASP Actin Nucleation Promoting Factor

GCID:
GC0XP048676
GIFtS:
55
Genes Participants
UDN Logo

Aliases for WAS Gene

Aliases for WAS Gene

  • WASP Actin Nucleation Promoting Factor 2 3
  • Wiskott-Aldrich Syndrome Protein 3 4
  • Thrombocytopenia 1 (X-Linked) 2 3
  • Wiskott-Aldrich Syndrome 2 5
  • Eczema-Thrombocytopenia 2 3
  • IMD2 3 4
  • Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia) 2
  • WASPA 3
  • SCNX 3
  • THC1 3
  • WASP 3
  • WASp 4
  • 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 (WASP Actin Nucleation Promoting Factor) is a Protein Coding gene. Diseases associated with WAS include Wiskott-Aldrich Syndrome and Thrombocytopenia 1. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and Signaling by Rho GTPases. Gene Ontology (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 that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).

Gene Wiki entry for WAS Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for WAS Gene

Promoters and enhancers for WAS Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ048675 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 600.7 +0.4 422 3.6 HDGF SP1 ZFX ZNF148 NKRF MLLT1 POLR2A FOS YY1 SP7 WAS ENSG00000204620 SUV39H1
GH0XJ048682 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 600.4 +7.4 7431 2.3 ZFX ZNF687 IKZF1 POLR2A ZNF143 CBFB ZBTB11 RUNX3 BCLAF1 ELF1 WAS VN1R110P SUV39H1
GH0XJ048933 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +261.9 261904 9.7 ZFX SP1 ELF3 CBFA2T2 ZNF148 NKRF MLLT1 GTF2F1 ZNF687 CDC5L ENSG00000279155 PQBP1 WAS OTUD5 SLC35A2 TIMM17B PIM2 TBC1D25 ENSG00000204620 ENSG00000228343
GH0XJ048695 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10 +20.5 20460 3.5 SP1 ZNF652 CC2D1A ZFX CBFA2T2 ZNF148 NKRF POLR2A GTF2F1 YY1 SUV39H1 WAS ENSG00000204620 RNU6-1056P GC0XM048725
GH0XJ048916 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.7 +242.7 242677 6.5 SP1 CC2D1A NKRF POLR2A GTF2F1 ZNF687 CTCF MAFK TFE3 ZBTB7A PIM2 ENSG00000270012 ENSG00000204620 FTSJ1 RBM3 PQBP1 CCDC22 ZNF182 PLP2 OTUD5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WAS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WAS gene promoter:
  • CREB
  • deltaCREB
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for WAS Gene

Genomic Locations for WAS Gene
chrX:48,676,596-48,691,427
(GRCh38/hg38)
Size:
14,832 bases
Orientation:
Plus strand
chrX:48,534,985-48,549,818
(GRCh37/hg19)
Size:
14,834 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 Structure • Gene Density

RefSeq DNA sequence for WAS Gene

Proteins for WAS Gene

Products:

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  3. Assay

  • 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:
    • Binds the Arp2/3 complex (PubMed:12769847). Interacts with CDC42, RAC, NCK, HCK, FYN, SRC kinase FGR, BTK, ABL1, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma (PubMed:8643625, PubMed:9405671, PubMed:12235133, PubMed:10360578, PubMed:15235593). Interacts (via C-terminus) with ALDOA (PubMed:17329259). Interacts with NCK1 (via SH3 domains) (By similarity). Interacts with FCHSD2 (By similarity).
    • (Microbial infection) Interacts with E.coli effector protein EspF(U).
    SequenceCaution:
    • 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

Protein Expression for WAS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=7676, posLast=144144, and posLast=147147
  • Modification sites at PhosphoSitePlus

Other Protein References for WAS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WAS Gene

Domains & Families for WAS Gene

Gene Families for WAS Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for WAS Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WAS Gene

GenScript: Design optimal peptide antigens:
  • Wiskott-Aldrich syndrome protein (Q2PAL5_HUMAN)
  • Wiskott-Aldrich syndrome protein (WASP_HUMAN)

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.
genes like me logo Genes that share domains with WAS: view

Function for WAS Gene

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  2. CRISPR
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Molecular function for WAS Gene

UniProtKB/Swiss-Prot Function:
Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).

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:
  • Was Was<tm1Sbs>
  • Was Was<tm1Kas>

Animal Model Products

CRISPR Products

miRNA for WAS Gene

miRTarBase miRNAs that target WAS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAS

Clone Products

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  • * WAS tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for WAS

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

Localization for WAS Gene

Subcellular locations from UniProtKB/Swiss-Prot for WAS Gene

Cytoplasm, cytoskeleton. Nucleus.

Subcellular locations from

COMPARTMENTS
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
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
endosome 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for WAS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 20574068
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IDA 8625410
genes like me logo Genes that share ontologies with WAS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WAS Gene

Pathways & Interactions for WAS Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
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:0000147 actin cortical patch assembly IBA 21873635
GO:0002625 regulation of T cell antigen processing and presentation IMP 22804504
GO:0006897 endocytosis IBA 21873635
GO:0006952 defense response TAS 8069912
GO:0006955 immune response IMP 8069912
genes like me logo Genes that share ontologies with WAS: view

Drugs & Compounds for WAS Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(13) 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

(7) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for WAS Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(111) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for WAS Gene

Wiskott-Aldrich syndrome:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAS

Clone Products

  • Applied Biological Materials (abm): Clones for WAS - Now 50% OFF >
  • * WAS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * WAS tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
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

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

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

mRNA expression in normal human tissues for WAS Gene
mRNA expression by GTEx for WAS GenemRNA expression by BioGPS 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, 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:

WAS

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.

Evidence on tissue expression from TISSUES for WAS Gene

  • Blood(4.7)
  • Liver(4.2)
  • Lymph node(2.8)
  • Spleen(2.8)
  • 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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • esophagus
  • lung
  • trachea
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • ureter
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • 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

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 34
  • 89.91 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Was 17 35 34
  • 87.01 (n)
rat
(Rattus norvegicus)
 Mammalia Was 34
  • 86.43 (n)
oppossum
(Monodelphis domestica)
 Mammalia WAS 35
  • 64 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia WAS 35
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia WAS 35
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia WAS 35
  • 61 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii wasa 35 34
  • 57.31 (n)
 OneToMany
wasb 35
  • 52 (a)
 OneToMany
WAS (3 of 3) 35
  • 31 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta WASp 35 36
  • 33 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes LAS17 37 35
  • 18 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5291 35
  • 39 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for WAS (if available)
TreeFam:
Gene Tree for WAS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WAS: view image

Paralogs for WAS Gene

Paralogs for WAS Gene

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

  • WASP_HUMAN
  • C9J3B7_HUMAN
genes like me logo Genes that share paralogs with WAS: view

Variants for WAS Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for WAS Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057517845 pathogenic, not provided, Severe congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome 48,688,097(+) G/A splice_donor_variant
rs132630268 pathogenic, Wiskott-Aldrich syndrome, not provided, Severe congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome (WAS) [MIM:301000], Wiskott-Aldrich syndrome (WAS) [MIM:301000] 48,684,407(+) G/A/T coding_sequence_variant, missense_variant
rs132630269 pathogenic, Thrombocytopenia, X-linked, Thrombocytopenia 1 (THC1) [MIM:313900] 48,684,317(+) C/T coding_sequence_variant, missense_variant
rs132630270 pathogenic, Thrombocytopenia, X-linked 48,686,928(+) C/G coding_sequence_variant, missense_variant
rs132630271 pathogenic, Wiskott-Aldrich syndrome 48,683,953(+) C/A/T coding_sequence_variant, stop_gained, synonymous_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

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)

Additional Variant Information for WAS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WAS
Human Gene Mutation Database (HGMD)
WAS

SNP Genotyping and Copy Number Assay Products

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

Disorders for WAS Gene

MalaCards: The human disease database

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

- 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
  • 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:20574068, 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.

Additional Disease Information for WAS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 JR … Rosen MK (Nature structural & molecular biology 2004) 3 4 23 58
  2. Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP. (PMID: 12769847) Cory GO … Ridley AJ (Molecular cell 2003) 3 4 23 58
  3. Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein. (PMID: 12235133) Cory GO … Ridley AJ (The Journal of biological chemistry 2002) 3 4 23 58
  4. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PMID: 11242115) Devriendt K … Vandenberghe P (Nature genetics 2001) 3 4 23 58
  5. The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. (PMID: 10066431) Hagemann TL … Kwan SP (Biochemical and biophysical research communications 1999) 3 4 23 58

ExternalLinks

View latest publications for WAS gene in Mastermind

Products for WAS Gene

  • Addgene plasmids for WAS

Sources for WAS Gene

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