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WAS

GENERAL INFORMATION

Gene name

 WAS

Gene description

 Wiskott-Aldrich syndrome

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (appendix, spleen, lymph node)
GTEx:Group enriched (spleen, small intestine, lung)
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 High cytoplasmic expression mainly observed in lymphoid cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA002022 , CAB004290
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (appendix, spleen, lymph node)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (spleen, small intestine, lung)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 WAS (HGNC Symbol)

Synonyms

 IMD2, THC, WASP, WASPA

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

Cytoband

 p11.23

Chromosome location (bp)

 48676596 - 48691427

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000015285 (version 83.38)

Entrez gene

 7454

UniProt

 P42768 (UniProt - Evidence at protein level)

neXtProt

 NX_P42768

Antibodypedia

 WAS antibodies

PROTEIN BROWSER
WAS-002
WAS-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
WAS-002
ENSP00000410537
ENST00000450772
C9J3B7 [Direct mapping]
Wiskott-Aldrich syndrome protein
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 217 aa
23.7 kDa 		No 0
WAS-007
ENSP00000365891
ENST00000376701
P42768 [Direct mapping]
Wiskott-Aldrich syndrome protein
A0A024QYX8 [Target identity:100%; Query identity:100%]
Wiskott-Aldrich syndrome (Eczema-thrombocytopenia), isoform CRA_a
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002625 [regulation of T cell antigen processing and presentation]
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005829 [cytosol]
GO:0005911 [cell-cell junction]
GO:0006461 [protein complex assembly]
GO:0006952 [defense response]
GO:0006955 [immune response]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007596 [blood coagulation]
GO:0008154 [actin polymerization or depolymerization]
GO:0008544 [epidermis development]
GO:0012506 [vesicle membrane]
GO:0015629 [actin cytoskeleton]
GO:0016197 [endosomal transport]
GO:0017124 [SH3 domain binding]
GO:0019901 [protein kinase binding]
GO:0030041 [actin filament polymerization]
GO:0030048 [actin filament-based movement]
GO:0030695 [GTPase regulator activity]
GO:0038096 [Fc-gamma receptor signaling pathway involved in phagocytosis]
GO:0042110 [T cell activation]
GO:0042802 [identical protein binding]
GO:0043274 [phospholipase binding]
GO:0045087 [innate immune response]
GO:0050790 [regulation of catalytic activity]
GO:0050852 [T cell receptor signaling pathway]
GO:0070062 [extracellular exosome]
GO:2000146 [negative regulation of cell motility]
Show all
 502 aa
52.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.