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Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA.

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000377 Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_000377.2, 187608471
Length 1844 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA.
Product wiskott-Aldrich syndrome protein

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 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].

RefSeq NP_000368.1
CDS 58..1566
Misc Feature(1)190..513
Misc Feature(2)190..513
Misc Feature(3)order(190..192,196..198,211..213,223..225,274..276,
Misc Feature(4)order(217..219,223..225,247..249,397..399,403..405)
Misc Feature(5)763..891
Misc Feature(6)order(769..771,778..780,787..789,793..795,802..804,
Misc Feature(7)928..930
Misc Feature(8)928..930
Misc Feature(9)928..930
Misc Feature(10)928..930
Misc Feature(11)1066..1095
Misc Feature(12)1183..1212
Misc Feature(13)1504..1506
Misc Feature(14)1504..1506
Misc Feature(15)1504..1506
Misc Feature(16)1507..1509
Misc Feature(17)1507..1509
Misc Feature(18)1507..1509
Exon (1)1..189
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (2)190..330
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (3)331..417
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (4)418..520
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (5)521..562
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (6)563..616
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (7)617..791
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (8)792..834
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (9)835..988
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (10)989..1395
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (11)1396..1510
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (12)1511..1831
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
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Position Chain Variation Link
27+c, tdbSNP:200571645
35+a, gdbSNP:376202818
87+a, cdbSNP:144372473
94+c, tdbSNP:193922415
113+a, cdbSNP:370235898
131+c, tdbSNP:374574436
147+c, tdbSNP:148800063
157+c, tdbSNP:132630271
158+a, gdbSNP:368523950
178+c, tdbSNP:11545907
187+g, tdbSNP:200530781
191+c, tdbSNP:132630273
224+c, tdbSNP:132630269
230+c, gdbSNP:132630275
241+c, gdbSNP:141605347
263+c, gdbSNP:374283590
301+c, tdbSNP:132630272
306+c, tdbSNP:368151220
314+a, g, tdbSNP:132630268
321+c, tdbSNP:150520117
323+a, gdbSNP:139857045
367+c, tdbSNP:193922414
408+c, tdbSNP:143299151
448+a, gdbSNP:146220228
470+a, gdbSNP:139265251
527+a, gdbSNP:369850591
581+c, tdbSNP:149932808
595+a, cdbSNP:145040665
650+c, tdbSNP:200261212
651+a, gdbSNP:376545922
675+c, tdbSNP:371005311
737+a, gdbSNP:374458439
753+a, gdbSNP:368379103
764+c, gdbSNP:132630270
820..821+, cdbSNP:193922416
846+c, tdbSNP:376093906
860+a, gdbSNP:376560886
866+c, tdbSNP:132630274
871+c, tdbSNP:387906716
930+c, tdbSNP:149123892
938+c, tdbSNP:387906717
1003+a, cdbSNP:372779500
1052+c, tdbSNP:2737799
1056+a, gdbSNP:369654974
1130+a, gdbSNP:267606468
1138+a, cdbSNP:201657175
1238+c, tdbSNP:373524969
1254..1262+, accgccaccdbSNP:193922412
1257+a, gdbSNP:375356111
1275+c, tdbSNP:370053372
1333+g, tdbSNP:201085962
1356+a, gdbSNP:372649110
1411+a, gdbSNP:57489208
1435+c, tdbSNP:143885622
1473+c, tdbSNP:377442612
1499+a, tdbSNP:132630276
1512+a, gdbSNP:35359501
1512+a, gdbSNP:386583546
1524+c, tdbSNP:141629445
1573+a, gdbSNP:190136544
Gene SymbolWAS
Gene SynonymIMD2; SCNX; THC; THC1; WASP
Locus MapXp11.4-p11.21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000377 Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA. On-demand $699.00 18
Title Wiskott-Aldrich Syndrome causing mutation, Pro373Ser restricts conformational changes essential for WASP activity in T-cells .
Author Jain N, George B and Thanabalu T.
Journal Biochim. Biophys. Acta 1842 (4), 623-634 (2014)
Title Intermittent X-linked thrombocytopenia with a novel WAS gene mutation .
Author Wada T, Itoh M, Maeba H, Toma T, Niida Y, Saikawa Y and Yachie A.
Journal Pediatr Blood Cancer 61 (4), 746-748 (2014)
Title Wiskott-Aldrich syndrome protein (WASp) controls the delivery of platelet transforming growth factor-beta1 .
Author Kim H, Falet H, Hoffmeister KM and Hartwig JH.
Journal J. Biol. Chem. 288 (48), 34352-34363 (2013)
Title Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations .
Author Zhang S, Zhang R, Chen C and Sun J.
Journal Fetal Pediatr Pathol 32 (4), 312-315 (2013)
Title Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity .
Author Ham H, Guerrier S, Kim J, Schoon RA, Anderson EL, Hamann MJ, Lou Z and Billadeau DD.
Journal J. Immunol. 190 (7), 3661-3669 (2013)
Title Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains .
Author Rivero-Lezcano OM, Marcilla A, Sameshima JH and Robbins KC.
Journal Mol. Cell. Biol. 15 (10), 5725-5731 (1995)
Title Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene .
Author Kwan SP, Hagemann TL, Radtke BE, Blaese RM and Rosen FS.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (10), 4706-4710 (1995)
Title WAS-Related Disorders .
Author Filipovich,A.H., Johnson,J. and Zhang,K.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome .
Author Donner M, Schwartz M, Carlsson KU and Holmberg L.
Journal Blood 72 (6), 1849-1853 (1988)
Title Inherited thrombocytopenia .
Author Ata,M., Fisher,O.D. and Holman,C.A.
Journal Lancet 1 (7377), 119-123 (1965)

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