Gene Gene information from NCBI Gene database.
Entrez ID 7454
Gene name WASP actin nucleation promoting factor
Gene symbol WAS
Synonyms (NCBI Gene)
IMD2SCNXTHCTHC1WASPWASPA
Chromosome X
Chromosome location Xp11.23
Summary 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 the
SNPs SNP information provided by dbSNP.
64
SNP ID Visualize variation Clinical significance Consequence
rs132630268 G>A,C,T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs132630269 C>T Pathogenic Coding sequence variant, missense variant
rs132630270 C>G Pathogenic Coding sequence variant, missense variant
rs132630271 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs132630272 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
20
miRTarBase ID miRNA Experiments Reference
MIRT1488620 hsa-miR-1207-5p CLIP-seq
MIRT1488621 hsa-miR-1224-5p CLIP-seq
MIRT1488622 hsa-miR-1262 CLIP-seq
MIRT1488623 hsa-miR-1294 CLIP-seq
MIRT1488624 hsa-miR-3147 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
ETS1 Unknown 10066431
MYB Unknown 10066431
SP1 Unknown 10066431
SPI1 Unknown 10066431
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0002625 Process Regulation of T cell antigen processing and presentation IMP 22804504
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 8892607, 9405671, 9422512, 9660763, 10202051, 12029088, 12235133, 12591280, 15169891, 15361624, 16488394, 17213309, 17242350, 18650809, 19234535, 19487689, 19805221, 19817875, 20936779, 21516116, 21988832, 22252508, 25416956, 25502805, 29248492, 31515488, 32296183
GO:0005634 Component Nucleus IDA 20574068, 29925947
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300392 12731 ENSG00000015285
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42768
Protein name Actin nucleation-promoting factor WAS (Wiskott-Aldrich syndrome protein) (WASp)
Protein 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:12235133, Pu
PDB 1CEE , 1EJ5 , 1T84 , 2A3Z , 2K42 , 2OT0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00568 WH1 36 145 WH1 domain Domain
PF00786 PBD 237 296 P21-Rho-binding domain Domain
PF02205 WH2 427 454 WH2 motif Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. {ECO:0000269|PubMed:8069912}.
Sequence
MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG
AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD
DCQAGLNFADEDEAQAFRALVQEKI
QKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH
PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA
PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIED
QGGL
EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP
PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV
PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA
IHSSDEGEDQAGDEDEDDEWDD
Sequence length 502
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Chemokine signaling pathway
Adherens junction
Tight junction
Fc gamma R-mediated phagocytosis
Yersinia infection
Choline metabolism in cancer
  Generation of second messenger molecules
Regulation of actin dynamics for phagocytic cup formation
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1684
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of blood and blood-forming tissues Likely pathogenic rs2147266958 RCV001814436
Colon adenocarcinoma Pathogenic rs1057517845 RCV005900671
Thrombocytopenia Pathogenic; Likely pathogenic rs2147265894, rs2519289013, rs132630273 RCV002280913
RCV002280981
RCV000851684
Thrombocytopenia 1 Likely pathogenic; Pathogenic rs2147262951, rs2147264299, rs2147264981, rs2147265693, rs2147265917, rs2147267350, rs2147262855, rs2147265717, rs2147266474, rs2147262809, rs2147263882, rs2147266379, rs2147263906, rs2147267240, rs2519281309
View all (78 more)
RCV001379030
RCV001387982
RCV001390444
RCV001386341
RCV001387588
RCV001387958
RCV002542702
RCV001959541
RCV001950664
RCV001904777
RCV002004114
RCV001952206
RCV001928082
RCV002012548
RCV002308506
RCV003775557
RCV003064718
RCV003041444
RCV003041445
RCV003041446
RCV003064719
RCV003050613
RCV003061641
RCV002829716
RCV002825499
RCV002880962
RCV002898681
RCV002871544
RCV002852854
RCV002872630
RCV003021236
RCV003013605
RCV003027190
RCV003042620
RCV003051659
RCV003779810
RCV000589566
RCV000633305
RCV000011865
RCV000011866
RCV000011867
RCV003764558
RCV000011872
RCV001851800
RCV001225126
RCV003783760
RCV003783763
RCV003783764
RCV003783766
RCV003783767
RCV003797908
RCV003813598
RCV003801681
RCV003807543
RCV003804998
RCV005220798
RCV000461952
RCV001390443
RCV003766237
RCV003764631
RCV001058962
RCV005222958
RCV001038563
RCV001387957
RCV000818878
RCV001230612
RCV000588019
RCV001009627
RCV000633306
RCV000633307
RCV000696288
RCV000700442
RCV005213406
RCV000818272
RCV000797025
RCV000802424
RCV000794890
RCV000808153
RCV000812978
RCV000821672
RCV001029840
RCV001046712
RCV001035433
RCV001047233
RCV001058741
RCV001069236
RCV001058410
RCV001067557
RCV001041620
RCV001216267
RCV001219012
RCV001221529
RCV001220386
RCV001204405
RCV001205113
RCV001385415
RCV005225346
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Uncertain significance rs2062438405 RCV001270616
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 9024694
Anemia Hemolytic Autoimmune Associate 31354712
Arthritis Rheumatoid Associate 40048636
Autoimmune Diseases Associate 24872192, 31354712, 37478401
Bacterial Infections Associate 12969986
Blast Crisis Inhibit 29022901
Blood Platelet Disorders Associate 10397718, 9376590
Bruton type agammaglobulinemia Associate 10590061, 10688822, 22927353, 30564228
Carcinogenesis Inhibit 29022901
Carcinoma Renal Cell Associate 37122750