Property Summary

NCBI Gene PubMed Count 184
Grant Count 542
R01 Count 275
Funding $62,232,218.58
PubMed Score 1138.71
PubTator Score 776.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 2.100 0.000
cutaneous lupus erythematosus 1.700 0.002
psoriasis 2.700 0.000
osteosarcoma -3.511 0.000

Synonym

Accession P42768 Q9BU11 Q9UNJ9 WASp
Symbols THC
IMD2
SCNX
THC1
WASP
WASPA

Gene

WAS

PDB

1CEE   1EJ5   1T84   2A3Z   2K42   2OT0  

Gene RIF (115)

PMID Text
26463123 This suggests that N-WASP's failure to compensate for WASP in rescuing chemotaxis could be due to the absence of this I30 region.
26368308 The introduction of functional WASp by GT corrected the alterations of both central and peripheral B cell tolerance checkpoints. WASp plays an important role in the establishment and maintenance of B cell tolerance in humans.
26277674 We describe two Malay patients with classical Wiskott-Aldrich Syndrome with two different mutations in the WASP gene
26261240 we identify small ubiquitin-related modifier (SUMO)ylation as a novel posttranslational modification of WASp
26175287 WASP, RUNX1, and ANKRD26 genes are important for normal TPO signaling and the network underlying thrombopoiesis.
26159751 Studies indicate that mutations in the Wiskott-Aldrich syndrome protein (WASp) gene cause a continuum of clinical symptoms ranging from intermittent X-linked thrombocytopenia to full classical Wiskott-Aldrich syndrome (WAS).
26028144 Platelet actin nodule formation is dependent on WASp and the ARP2/3 complex.
25931402 A total of 60 unique WAS mutations were identified in Chinese patients, including 20 novel mutations and 8 hotspots, from 75 unrelated families with a total of 81 affected members.
25413351 conclude that tyrosine phosphorylation of WIP is a crucial regulator of WASP stability and function as an actin-nucleation-promoting factor
25388447 retrospectively investigated the outcome of hematopoietic stem cell transplantation in a cohort of 24 patients with the X-linked thrombocytopenia phenotype and mutations in the WAS gene
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AA Sequence

MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPGAEHWTKEHCG      1 - 70
AVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGDDCQAGLNFADEDEAQAFRAL     71 - 140
VQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLHPGGDQGGPPVGPLSLGLATVDIQNPDITSS    141 - 210
RYRGLPAPGPSPADKKRSGKKKISKADIGAPSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQ    211 - 280
LTDAETSKLIYDFIEDQGGLEAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIA    281 - 350
PPPPTPRGPPPPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV    351 - 420
PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRAIHSSDEGEDQ    421 - 490
AGDEDEDDEWDD                                                              491 - 502
//

Text Mined References (198)

PMID Year Title
26566883 2016 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
26463123 2015 Molecular difference between WASP and N-WASP critical for chemotaxis of T-cells towards SDF-1?.
26368308 2015 Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
26277674 2015 Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.
26261240 2015 SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-?B response genes in T cells.
26175287 2015 Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.
26159751 2015 Current and emerging treatment options for Wiskott-Aldrich syndrome.
26028144 2015 Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25931402 2015 Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
More...