WAS

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (spleen)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

High cytoplasmic expression mainly observed in lymphoid cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA002022 , CAB004290
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (spleen)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p11.23

Chromosome location (bp)

48676596 - 48691427

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000015285 (version 78.38)

Entrez gene

7454

UniProt

P42768 (UniProt - Evidence at protein level)

neXtProt

NX_P42768

Antibodypedia

WAS antibodies


PROTEIN BROWSER

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ENST00000376701
 
ENST00000450772
 
 
 
 


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
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Show » Show » 502 52.9 No 0