WAS Gene

Alternative Names

  • WAS
  • WAS Protein
  • WASP
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OMIM Number

300392

NCBI Gene ID

7454

Uniprot ID

P42768

Length

14,832 bases

No. of Exons

13

Protein Name

Wiskott-Aldrich syndrome protein

Molecular Mass

52913 Da

Amino Acid Count

502

Genomic Location

chrX:48,676,596-48,691,427

Gene Map Locus
Xp11.23

Description

WAS translates into the WASP protein, which is mainly expressed in white blood cells and platelets affecting their numbers and function.  WASP, expressed in all hematopoietic stem cell–derived lineages is located predominantly in the cytoplasm.  It promotes the white blood cells to change their shape to move towards an area in the body where it is needed.  

Defects in the WASP are the cause of Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and severe congenital neutropenia. Mutations in the first 4 exons have been associated with milder phenotypes, whereas the ones between exons 5 and 12 cause more severe phenotypes.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000377.2:c.559+5G>CSaudi ArabiaChrX:48686139PathogenicWiskott-Aldrich SyndromeNG_007877.1:g.7343G>C; NM_000377.2:c.559+5G>C886039451265290
NM_000377.3:c.134C>TLebanon; SyriachrX:48684284PathogenicThrombocytopenia 1; Wiskott-Aldrich SyndromeNG_007877.1:g.5488C>T; NM_000377.3:c.134C>T; NP_000368.1:p.Thr45Met13263027311123
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