WAS

GENE INFORMATION

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Gene name

WAS (HGNC Symbol)

Synonyms

IMD2, THC, WASP

Description

Wiskott-Aldrich syndrome (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

p11.23

Chromosome location (bp)

48534985 - 48549818

Ensembl

ENSG00000015285 (version 73.37)

Entrez gene

7454

UniProt

P42768 (UniProt - Evidence at protein level)

neXtProt

NX_P42768

Antibodypedia

WAS antibodies
 

PROTEIN VIEW

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WAS-002
 
WAS-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

WAS-002 ENSP00000410537
ENST00000450772
C9J3B7
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Show » Show » 217 23.7 No 0
WAS-007 ENSP00000365891
ENST00000376701
P42768
Show all »
Show » Show » 502 52.9 No 0