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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

WAS Gene

protein-coding GIFtS: 71
GCID: GC0XP048534

Wiskott-Aldrich syndrome

(Previous names: thrombocytopenia 1 (X-linked), Wiskott-Aldrich syndrome...)
(Previous symbols: IMD2, THC)

Explore 23 diseases affiliated with
WAS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Wiskott-Aldrich Syndrome¹ ²		Wiskott-Aldrich Syndrome (Eczema-Thrombocytopenia)¹
IMD2¹ ² ³ ⁵		SCNX²
THC¹ ²		Eczema-Thrombocytopenia¹
WASP¹ ²		Wiskott-Aldrich Syndrome Protein²
Thrombocytopenia 1 (X-Linked)¹ ²		WASp³
THC1² ⁵

External Ids:	HGNC: 12731¹	Entrez Gene: 7454²	Ensembl: ENSG00000015285⁷	OMIM: 300392⁵	UniProtKB: P42768³

Export aliases for WAS gene to outside databases

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298 GC0XP048427 GC0XP046204

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WAS:

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)

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Function: Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the

Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function.

Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria

Gene Wiki entry for WAS (Wiskott�"Aldrich syndrome protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WAS gene promoter:
CREB PPAR-alpha PPAR-gamma1 deltaCREB PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WAS promoter sequence

Search SABiosciences Chromatin IP Primers for WAS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WAS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.4-p11.21 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.4-p11.21

WAS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WAS gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP048534: view genomic region (about GC identifiers)

Start:	48,534,985 bp from pter	End:	48,549,818 bp from pter
Size:	14,834 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768 (See protein sequence)

Recommended Name: Wiskott-Aldrich syndrome protein

Size: 502 amino acids; 52913 Da

Subunit: Interacts with NCK1 (via SH3 domains) (By similarity). Interacts with CDC42, RAC, NCK, HCK, FYN, SRC kinase

FGR, BTK, ABL1, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma. Binds the Arp2/3 complex. Interacts (via

C-terminus) with ALDOA. Interacts with E.coli effector protein EspF(U)

Subcellular location: Cytoplasm, cytoskeleton

Sequence caution: Sequence=AAH02961.1; Type=Erroneous initiation;

6 PDB 3D structures from and Proteopedia for WAS:

1CEE (3D)

1EJ5 (3D)

1T84 (3D)

2A3Z (3D)

2K42 (3D)

2OT0 (3D)

Secondary accessions: Q9BU11 Q9UNJ9

Explore the universe of human proteins at neXtProt for WAS: NX_P42768

Post-translational modifications:

Phosphorylated at Tyr-291 by FYN and HCK, inducing WAS effector activity after TCR engagement. Phosphorylation at

Tyr-291 enhances WAS activity in promoting actin polymerization and filopodia formation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P42768

WAS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000368.1

ENSEMBL proteins:

ENSP00000410537 ENSP00000365891

Reactome Protein details: P42768
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: WAS OriGene Protein Over-expression Lysate: WAS OriGene Custom Protein Services for WAS
	GenScript Custom Purified and Recombinant Proteins Services for WAS
	Novus Biologicals WAS Protein Novus Biologicals WAS Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for WAS

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0012506	vesicle membrane	IEA	--
GO:0015629	actin cytoskeleton	IEA	--

WAS for ontologies About GeneDecksing

WAS Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of WAS
	R&D Systems Antibodies for WAS (WASP)
	Cell Signaling Technology (CST) Antibodies for WAS (WASP)
	OriGene Antibodies (see all 3): WAS OriGene Custom Antibody Services for WAS
	GenScript Custom Superior Antibodies Services for WAS
	Novus Biologicals WAS Antibodies
	Abcam antibodies for WAS
	Uscn Antibodies for WAS
	ThermoFisher Antibodies for WAS

Assay Products for WAS:

	EMD Millipore Kits and Assays for the Analysis of WAS
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for WAS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for WAS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

WAS for domains About GeneDecksing

5 InterPro domains/families:

IPR003124 WH2_dom

IPR000095 PAK_box_Rho-bd

IPR011993 PH_like_dom

IPR000697 EVH1

IPR011026 WASP_C

Graphical View of Domain Structure for InterPro Entry P42768

ProtoNet protein and cluster: P42768

1 Blocks protein family: IPB003124 Actin-binding WH2

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Domain: The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand

Domain: The CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited state

of the protein. Binding of Rho-type GTPases to the CRIB induces a conformation change and leads to activation

Similarity: Contains 1 CRIB domain

Similarity: Contains 1 WH1 domain

Similarity: Contains 1 WH2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Function: Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the

Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function.

Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria

miRNA Products:		OriGene 3'-UTR Clone: WAS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WAS
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate WAS:
		hsa-miR-548c-3p hsa-miR-500a
		SwitchGear 3'UTR luciferase reporter plasmid: WAS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WAS (see all 7) OriGene shRNA RFP: WAS OriGene siRNA: WAS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WAS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for WAS

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WAS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WAS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: WAS (NM_000377)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for WAS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WAS

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for WAS
		Search LifeMap BioReagents cell lines for WAS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IEA	--
GO:0005083	small GTPase regulator activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0042802	identical protein binding	IPI	12769847

WAS for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for WAS: Was^tm1Sbs Was^tm1Kas
     9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Was):

cellular	digestive/alimentary	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism
immune system	renal/urinary system	skeleton	tumorigenesis

WAS for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of actin dynamics for phagocytic cup formation

	Regulation of actin dynamics for phagocytic cup formation	1.00			Fcgamma receptor (FCGR) dependent phagocytosis	0.80
	Role of myosins in phagosome formation	0.80			Branching and elongation of mother and daughter filaments	0.29

Immune response CD16 signaling in NK cells

	Immune response CD16 signaling in NK cells	1.00			Immune response_Role of DAP12 receptors in NK cells	0.32
	Immune response_CD16 signaling in NK cells	0.99			Immune response Role of DAP12 receptors in NK cells	0.32

Cell adhesion_Integrin-mediated cell adhesion and migration

	Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases	0.49			Cytoskeleton remodeling Integrin outside-in signaling	0.37
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49			Cytoskeleton remodeling_Integrin outside-in signaling	0.37

Immune System

	Immune System	1.00			Innate Immune System	0.46
	Adaptive Immune System	0.59

Immune response _CCR3 signaling in eosinophils

Immune response _CCR3 signaling in eosinophils

1.00

Immune response CCR3 signaling in eosinophils

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 EMD Millipore Pathways for WAS (see all 6)

	Cytoskeleton remodeling Integrin outside-in signaling
	Immune response CD16 signaling in NK cells
	Cytoskeleton remodeling CDC42 in cellular processes
	Immune response Role of DAP12 receptors in NK cells
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for WAS (see all 13)

	Sertoli-Sertoli Cell Junction Dynamics
	CDC42 Pathway
	CD28 Signaling in T-Helper Cell
	Tec Kinases Signaling
	Transendothelial Migration of Leukocytes

1 Cell Signaling Technology (CST) Pathway for WAS

Cytoskeletal Signaling

5/6 GeneGo (Thomson Reuters) Pathways for WAS (see all 6)

	Cytoskeleton remodeling Integrin outside-in signaling
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Cytoskeleton remodeling CDC42 in cellular processes
	Immune response CCR3 signaling in eosinophils
	Immune response CD16 signaling in NK cells

5/6 BioSystems Pathways for WAS (see all 6)

	G13 Signaling Pathway
	Pathogenic Escherichia coli infection
	TCR Signaling Pathway
	Regulation of Actin Cytoskeleton
	B Cell Receptor Signaling Pathway

5/9 Reactome Pathways for WAS (see all 9)

	Role of myosins in phagosome formation
	Branching and elongation of mother and daughter filaments
	Adaptive Immune System
	Fcgamma receptor (FCGR) dependent phagocytosis
	Regulation of actin dynamics for phagocytic cup formation

5/7 Kegg Pathways (Kegg details for WAS) (see all 7):

	Chemokine signaling pathway
	Adherens junction
	Fc gamma R-mediated phagocytosis
	Regulation of actin cytoskeleton
	Bacterial invasion of epithelial cells

WAS for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for WAS

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/103 Interacting proteins for WAS (P42768^{1, 2, 3} ENSP00000365891⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 103)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FYN	P06241²^,³, ENSP00000357656⁴	MINT-50146 MINT-50144 MINT-14847 MINT-50145 I2D: score=4 STRING: ENSP00000357656
WIPF1	O43516¹^,³, ENSP00000352802⁴	EBI-346375,EBI-346356 I2D: score=5 STRING: ENSP00000352802
HCK	P08631¹^,³, ENSP00000365012⁴	EBI-346375,EBI-346340 I2D: score=4 STRING: ENSP00000365012
PTPN12	Q05209²^,³, ENSP00000248594⁴	MINT-50152 I2D: score=4 STRING: ENSP00000248594
GAS7	O60861²^,³, ENSP00000322608⁴	MINT-72917 I2D: score=3 STRING: ENSP00000322608

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006461	protein complex assembly	TAS	8625410
GO:0006952	defense response	TAS	8069912
GO:0006955	immune response	IMP	8069912
GO:0007596	blood coagulation	TAS	8069912
GO:0008154	actin polymerization or depolymerization	TAS	8625410

WAS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

WAS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for WAS

1 DrugBank Compound for WAS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
(S)-Wiskostatin	--	--	target	--	10592235

10/19 Novoseek chemical compound relationships for WAS gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
wiskostatin	88.9	3	15235593 (1), 16472665 (1)
pip2	56	6	16006560 (3), 15260983 (1), 17302440 (1)
tyrosine	47.6	88	9731041 (5), 10590061 (5), 10532312 (3), 19234535 (3) (see all 30)
calpeptin	37.8	4	11698281 (1), 17213309 (1)
proline	34.3	6	11069762 (2), 12160237 (1), 8892607 (1), 17207458 (1)
cytochalasin d	24.2	6	12601690 (1), 9731041 (1), 12177428 (1)
phosphatidylinositol	6.32	8	16968699 (2), 19561083 (2), 9731041 (1), 10590061 (1) (see all 5)
hydrogen	5.46	4	19298826 (2), 11714264 (1), 15469902 (1)
gdp	5.16	1	10967094 (1)
calcium	1.33	2	16582881 (1), 15728466 (1)

Search CenterWatch for drugs/clinical trials and news about WAS / WASP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for WAS gene:

NM_000377.2

Unigene Cluster for WAS:

Wiskott-Aldrich syndrome

Hs.2157 [show with all ESTs]

Unigene Representative Sequence: NM_000377

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000450772 ENST00000376701(uc004dkm.4) ENST00000465982 ENST00000483750

ENST00000490627 ENST00000474174 ENST00000470107

miRNA Products:		OriGene 3'-UTR Clone: WAS Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WAS
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate WAS:
		hsa-miR-548c-3p hsa-miR-500a
		SwitchGear 3'UTR luciferase reporter plasmid: WAS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WAS (see all 7) OriGene shRNA RFP: WAS OriGene siRNA: WAS
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WAS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WAS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: WAS (NM_000377)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for WAS
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WAS

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WAS Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WAS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WAS

Additional cDNA sequence:

BC002961.1 BC012738.2 U12707.1 U19927.1

5 DOTS entries:

DT.212325 DT.95100049 DT.100873436 DT.86854947 DT.86854950

24/111 AceView cDNA sequences (see all 111):

BM802845 BI766599 BM849088 BC012738 AA825986 BC002961 BM563924 BQ060937

BI764081 BQ012196 AA312206 CR605612 BE270046 CA427815 BM458492 AW574817

BM819869 U19927 BX283433 BQ055374 H61193 CR591854 CR605854 BM562377

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for WAS About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13	^	14
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for WAS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

WAS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTCCCCCTC

About this image

WAS expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Umbilical Cord

Umbilical Veins

Umbilical Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See WAS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WAS

SOURCE GeneReport for Unigene cluster: Hs.2157

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Tissue specificity: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen

SABiosciences Expression via Pathway-Focused PCR Arrays including WAS:

Cytoskeleton Regulators in human mouse rat

Adherens Junctions in human mouse rat

T-cell & B-cell Activation in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WAS Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WAS
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WAS

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WAS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for WAS gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Was^{1 , 5}	Wiskott-Aldrich syndrome homolog (human)^{1, 5}	85.5(n)¹ 89.58(a)¹		X (3.65 cM)⁵ 22376¹ NM_009515.2¹ NP_033541.1¹ 8081453⁵
chicken (Gallus gallus)	Aves	SF3A2⁶	Uncharacterized protein	19(a)	possible ortholog	28(1605674-1606009)
lizard (Anolis carolinensis)	Reptilia	WAS⁶	--	62(a)	1 ↔ 1	2(69469801-69501705)
zebrafish (Danio rerio)	Actinopterygii	wasb¹	Wiskott-Aldrich syndrome (eczema-thrombocytopenia) more	60.43(n) 60.57(a)		335158 NM_199938.1 NP_956232.1
fruit fly (Drosophila melanogaster)	Insecta	WASp³	sensory organ development actin binding	37(a)		98E5 --
worm (Caenorhabditis elegans)	Secernentea	C31C9.6⁶ B0280.2⁶ (see all 5)	Uncharacterized protein B0280.2 (see all 5)	8(a) 8(a) (see all 5)	possible ortholog possible ortholog (see all 5)	II(13655814-13662011) III(7124602-7128320)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G27390⁶	proline-rich family protein	16(a)	1 → many	2(11720484-11720888)

ENSEMBL Gene Tree for WAS (if available)
TreeFam Gene Tree for WAS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for WAS gene

WASL² WASF2² WASF3² WASF1²

2 SIMAP similar genes for WAS using alignment to 2 protein entries: WASP_HUMAN (see all proteins):

DKFZp779G0847 WASL

WAS for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs132630268^1,2	C	pathogenic	48542796(+)	`CATCCA/G/TCCTTT`	3	H R L	mis¹		0	--	--	--	--
rs145040665^1,2	C,F,	probable-pathogenic	48544502(+)	`CCCTGC/AATCCA`	2	/N /H	mis¹		1		NA	4540
rs139659302^1,2		--	48540343(+)	`TGCTCA/TGCTCC`	1	--	us2k¹		0	--	--	--	--
rs184380373^1,2		--	48540411(+)	`CATGGC/GGAAAC`	1	--	us2k¹		0	--	--	--	--
rs149941344^1,2		--	48540434(+)	`AGGCCA/GGGGAC`	1	--	us2k¹		0	--	--	--	--
rs145072740^1,2	C,	--	48540522(+)	`ATTCCC/TGTCTG`	1	--	us2k¹		0	--	--	--	--
rs189608406^1,2		--	48540564(+)	`GTGTGC/TGGGAG`	1	--	us2k¹		0	--	--	--	--
rs142231772^1,2		--	48540777(+)	`TCACAC/TCTGGC`	1	--	us2k¹		0	--	--	--	--
rs55789731^1,2	C,	--	48540801(+)	`ACTCCA/GGGCAA`	1	--	us2k¹		2		NA	3
rs140238646^1,2		--	48540847(+)	`GCTATA/GTGAGT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for WAS (48534985 - 48549818 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for WAS
1 CNV: 7789
Human Gene Mutation Database (HGMD): WAS

Locus Specific Mutation Databases (LSDB): WAS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WAS

DNA2.0 Custom Variant and Variant Library Synthesis for WAS

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

WAS for disorders           About GeneDecksing

OMIM gene information: 300392
OMIM disorders: 301000  313900  300299
UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as

eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by

eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10

Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:313900]. Thrombocytopenia is defined by a

decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and

decreased ability for clotting

Defects in WAS are a cause of neutropenia severe congenital X-linked (XLN) [MIM:300299]. XLN is an

immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and

monocytopenia

20/23 diseases for WAS (see all 23): About MalaCards

wiskott-aldrich syndrome thrombocytopenia, x-linked thrombocytopenia thrombocytopenia, x-linked, intermittent

eczema severe congenital neutropenia neutropenia agammaglobulinemia

intussusception inflammatory bowel disease burkitt's lymphoma ulcerative colitis

shigellosis protein s deficiency diarrhea gout

vaccinia immunodeficiency pancreatic cancer pancreatitis

3 diseases from the University of Copenhagen DISEASES database for WAS:

Wiskott-Aldrich syndrome Thrombocytopenia Primary immunodeficiency disease

10/21 Novoseek disease relationships for WAS gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
wiskott-aldrich syndrome	99	358	17205972 (3), 15616597 (3), 9616151 (2), 20182458 (2) (see all 99)
thrombocytopenia 1	94.8	31	11877312 (2), 15203732 (2), 8743175 (2), 8528199 (2) (see all 24)
scar1	90.7	28	9889097 (6), 12601690 (5), 12429845 (4), 11747816 (3) (see all 6)
neutropenia, severe congenital, x-linked	90	3	11877312 (1), 15203732 (1), 11242115 (1)
eczema	82.4	10	10737997 (1), 12969986 (1), 10447259 (1), 12894849 (1) (see all 9)
thrombocytopenia	71.1	29	8528198 (4), 16522820 (2), 15218418 (2), 10737997 (1) (see all 17)
immunodeficiency	66.8	41	14612666 (2), 19351959 (2), 9616151 (1), 10737997 (1) (see all 37)
abnormal platelets	62.4	1	10397718 (1)
scar	54.8	43	19716703 (3), 14762109 (3), 11854309 (2), 14588242 (2) (see all 25)
x-linked agammaglobulinemia	40.8	1	10590061 (1)

GeneTests: WAS

WAS-Related Disorders

Genetic Association Database (GAD): WAS
Human Genome Epidemiology (HuGE) Navigator: WAS (0 documents)

Export disorders for WAS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for WAS gene, integrated from 9 sources (see all 421):
(articles sorted by number of sources associating them with WAS)

Utopia: connect your pdf to the dynamic
world of online information

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PubMed id 7795648)^{1, 2, 3, 9} Villa A.... Vezzoni P. (1995)
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. (PubMed id 8528198)^{1, 2, 9} Kolluri R.... Siminovitch K.A. (1995)
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. (PubMed id 9713366)^{1, 2, 9} Facchetti F.... Nelson D.L. (1998)
Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott- Aldrich Syndrome protein. (PubMed id 12235133)^{1, 2, 9} Cory G.O.... Ridley A.J. (2002)
The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. (PubMed id 10066431)^{1, 2, 9} Hagemann T.L. and Kwan S.-P. (1999)
Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP. (PubMed id 12769847)^{1, 2, 9} Cory G.O.C.... Ridley A.J. (2003)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)^{1, 2, 9} Devriendt K.... Vandenberghe P. (2001)
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PubMed id 9126958)^{1, 2, 9} Remold-O'Donnell E.... Rosen F.S. (1997)
Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein. (PubMed id 10360578)^{1, 2, 9} Abdul-Manan N.... Rosen M.K. (1999)
WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PubMed id 9405671)^{1, 2, 9} Ramesh N.... Geha R.S. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7454	HGNC: 12731	AceView: WAS	Ensembl:ENSG00000015285	euGenes: HUgn7454
ECgene: WAS	Kegg: 7454	H-InvDB: WAS

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for WAS	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for WAS	Genetics and Cytogenetics in Oncology and Haematology
WASbase	http://bioinf.uta.fi/WASbase/
WASPbase	http://homepage.mac.com/kohsukeimai/wasp/WASPbase.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WAS
Wikipedia	http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein

Intellectual Property for WAS gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for WAS gene:
Search GeneIP for patents involving WAS

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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In Situ Hybridization Assays from
Advanced Cell Diagnostics
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NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
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