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WAS Gene

protein-coding GIFtS: 71

GC0XP046204

Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
(Previous name: thrombocytopenia 1 (X-linked) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: IMD2, THC)

		Products

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

Aliases & Descriptions
Wiskott-Aldrich syndrome (eczema-thrombocytopenia)¹ ²		THC1² ⁵
IMD2² ³ ⁵		THC²
WASP¹ ²		wiskott-Aldrich syndrome protein²
thrombocytopenia 1 (X-linked)¹ ²		WASp³

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

Export aliases for WAS gene to outside databases

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298 GC0XP048427 GC0XP048534

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Function: Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure

and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte

and platelet function

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WAS gene promoter:
         Elk-1   PPAR-gamma2   PPAR-gamma1   CREB   GATA-3   deltaCREB   TFIID   TBP   FOXO4   POU3F2
         Other transcription factors

Search SABiosciences Chromatin IP Primers for WAS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP046204: view genomic region (about GC identifiers)

Start:	46,204,599 bp from pter
End:	46,212,234 bp from pter
Size:	7,636 bases
Orientation:	plus strand

1 alternative location:

ChrX+ 48,534,985-48,549,818

RefSeq DNA sequence:

NC_000023.10 NT_079573.4

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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: Binds to CDC42, RAC, NCK, FYN, SRC kinase FGR, BTK, ABL, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma.

Binds the Arp2/3 complex

Subcellular location: Cytoplasm, cytoskeleton

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

PDB structures from and Proteopedia :

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:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000368.1

ENSEMBL proteins:

ENSP00000410537 ENSP00000365891

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Purified and Recombinant Proteins for WAS
	Novus Biologicals Proteins for WAS
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	EXP	7565724
GO:0012506	vesicle membrane	IEA	--
GO:0015629	actin cytoskeleton	IEA	--

About this table

WAS for ontologies About GeneDecksing

Antibodies for WAS:

	Millipore Mono- and Polyclonal Antibodies for the study of WAS
	Sigma-Aldrich Antibodies for WAS
	R&D Systems Antibodies for WAS (WASP)
	Cell Signaling Technology (CST) Antibodies for WAS (WASP)
	OriGene Antibodies (see all 3): WAS
	GenScript Superior Antibodies for WAS
	Novus Biologicals Antibodies for WAS
	Epitomics antibodies for WAS

Assays for WAS:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	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
	Browse ELISAs and CLIAs at Uscn

(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:

IPR000095 PAK_box_Rho-bd

IPR011993 PH_type

IPR011026 WASP_C

IPR003124 WH2_actin-bd

IPR000697 EVH1

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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

Function: Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure

and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte

and platelet function

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WAS Sigma-Aldrich shRNA Panels and shRNA for WAS
		OriGene 29mer shRNA kits in GFP-retroviral vector: WAS OriGene shRNA RFP: WAS OriGene basic RS shRNA: WAS OriGene siRNA: WAS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WAS

miRNA:		Sigma-Aldrich microRNA Mimics for WAS Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WAS
		Search SABiosciences for Assays for microRNAs that regulate WAS

Gene
Editing:

Sigma-Aldrich CompoZr Knockout ZFN for WAS

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: WAS OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WAS OriGene untagged cDNA clones in CMV expression vector: WAS OriGene 3'-UTR clone: WAS Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for WAS
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for WAS

3 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005083	small GTPase regulator activity	IEA	--
GO:0005515	protein binding	IPI	19167335
GO:0042802	identical protein binding	IPI	12769847

About this table

WAS for ontologies About GeneDecksing

Animal Models: 7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Was):

cellular	digestive/alimentary	endocrine/exocrine gland	hematopoietic system	immune system
skeleton	tumorigenesis

WAS for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

WAS for pathways About GeneDecksing

5/6 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

5/11 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for WAS (see all 11)

	Cdc42 Signaling
	Axonal Guidance Signaling
	FAK Signaling
	CD28 Signaling in T Helper Cells
	Fcγ Receptor-mediated Phagocytosis in Macrophages and Monocytes

2 Cell Signaling Technology (CST) Pathways for WAS

	T Cell Receptor Signaling
	Cytoskeletal Signaling

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

	hsa04062 Chemokine signaling pathway
	hsa04520 Adherens junction
	hsa04666 Fc gamma R-mediated phagocytosis
	hsa04810 Regulation of actin cytoskeleton
	hsa05100 Bacterial invasion of epithelial cells

SABiosciences Pathway-Focused PCR Array including WAS: PAHS-088A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for WAS

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

5/44 Interacting proteins for WAS (ENSP00000365891³ P42768^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDC42	P60953¹^,²	STRING: ENSP00000314458 EBI-346375,EBI-81752 MINT-13944 MINT-13945 MINT-25018
PTPN12	Q05209¹^,²	STRING: ENSP00000248594 EBI-346375,EBI-2266035 MINT-50152
HCK	P08631¹	STRING: ENSP00000262651 EBI-346375,EBI-346340
WIPF1	O43516¹	STRING: ENSP00000272746 EBI-346375,EBI-346356
FYN	P06241²	STRING: ENSP00000357656 MINT-50146 MINT-50144 MINT-14847 MINT-50145

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006461	protein complex assembly	IEA	--
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

About this table

WAS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

WAS for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for WAS
10/19 Novoseek chemical compound relationships for WAS gene (see all 19)

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)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WAS Sigma-Aldrich shRNA Panels and shRNA for WAS
		OriGene 29mer shRNA kits in GFP-retroviral vector: WAS OriGene shRNA RFP: WAS OriGene basic RS shRNA: WAS OriGene siRNA: WAS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WAS

miRNA:		Sigma-Aldrich microRNA Mimics for WAS Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WAS
		Search SABiosciences for Assays for microRNAs that regulate WAS

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: WAS OriGene Myc/DDK tagged cDNA clones in CMV expression vector: WAS OriGene untagged cDNA clones in CMV expression vector: WAS OriGene 3'-UTR Clone: WAS Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for WAS

Primers:		OriGene genome-wide validated SYBR primer pairs: WAS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for WAS: PPH07123A

REFSEQ mRNAs for WAS gene:

NM_000377.2

Additional cDNA sequence:

BC002961.1 BC012738.2 CR591854.1 CR605612.1 CR605854.1 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):

BM819869 BM458492 BI764081 AW574817 BM849088 H61193 BQ055374 AA825986

BC002961 BI766599 BX283433 CA427815 BE270046 CR605612 BQ012196 CR591854

U19927 AA312206 BC012738 BM802845 BQ060937 CR605854 BM563924 H62098

highest scoring ESTs for WAS:

U12707 AA250834 AA825986 AA897085 AI218705 AI281206 AI470207 AI660043 AI886760 AW008801

Unigene Cluster for WAS:

Wiskott-Aldrich syndrome (eczema-thrombocytopenia)

Hs.2157 [show with all ESTs]

Unigene Representative Sequence: NM_000377

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for WAS
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000490627 ENST00000470107 ENST00000465982 ENST00000474174 ENST00000450772

ENST00000483750 ENST00000376701(uc004dkm.3)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

WAS expression in normal and diseased human tissues

¹ / ² / ³

7 probe-sets matching WAS gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38963_i_at²^{, 3}	U95-A	1	1.00	1.00	0.83	1.01	U12707	1.00	1.00	1.00	1
64315_r_at²^{, 3}	U95-C	1	1.00	1.00	0.99	1.04	AI655719	0.60	1.00	0.82	1
38964_r_at²^{, 3}	U133-A	1	0.94	1.00	1.00	0.96	U12707	1.00	1.00	1.00	1
205400_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000377	0.60	1.00	0.82	1
38964_r_at²^{, 3}	U133-A	1	0.94	1.00	--	--	U12707	1.00	1.00	1.00	1
205400_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
38964_r_at²	U133Plus2	1	0.94	1.00	--	--	--	--	--	--	--

About this table

WAS for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: GCTCCCCCTC

SOURCE GeneReport for Unigene cluster: Hs.2157

Expression variation in blood from EXPOLDB for WAS

UniProtKB/Swiss-Prot: WASP_HUMAN, P42768

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

Primers:		OriGene genome-wide validated SYBR primer pairs: WAS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for WAS: PPH07123A

SABiosciences Expression via Pathway-Focused PCR Array including WAS: PAHS-088A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for WAS gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	WAS¹	--	Wiskott-Aldrich syndrome (eczema-thrombocytopenia)	90.75(n) 92.42(a)	491867 XM_548986.2 XP_548986.2
mouse (Mus musculus)	Was^{1 , 5}	X (3.65 cM)⁵	Wiskott-Aldrich syndrome homolog (human)^{1, 5}	85.5(n)¹ 89.58(a)¹	22376¹ NM_009515.1¹ NP_033541.1¹ BC166000⁵ BG064517⁵ (see all 11)
zebrafish (Danio rerio)	was¹	--	Wiskott-Aldrich syndrome (eczema-thrombocytopenia)	60.43(n) 60.57(a)	335158 NM_199938.1 NP_956232.1
fruit fly (Drosophila melanogaster)	WASp³	98E5	sensory organ development actin binding	37(a)	--
baker's yeast (Saccharomyces cerevisiae)	LAS17(YOR181W)⁴	15(675940-677841)	Actin assembly factor, activates the Arp2/3 protein more	--	854353 NP_014824.1

About this table Species with no ortholog for WAS

ENSEMBL Gene Tree for WAS (if available)

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

Paralogs for WAS gene

WASL² WASF2² WASF3² WASF1²

WAS for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs192092^1,2	--	48541244(+)	`gtgccA/Cccgca`	1	--	ng5¹		0	--	--	--	--
rs235422^1,2	C,F	48541901(+)	`AGCCCT/CGCACA`	1	--	ng5¹		5		MN NS EA	602
rs235423^1,2	C,H,	48544650(+)	`cgagcG/Aggtgc`	1	--	int¹		6		NA WA	10
rs2735860^1,2	--	48548998(+)	`tcttgC/Gtctgt`	1	--	int¹		0	--	--	--	--
rs2737796^1,2	C	48544600(+)	`ggtgcG/Ctaagt`	1	--	int¹		4		NS EA	418
rs2737797^1,2	--	48544696(+)	`ggcggC/Tagatg`	1	--	int¹		0	--	--	--	--
rs2737798^1,2	--	48545443(+)	`GGGCAC/GATGGC`	1	--	int¹		0	--	--	--	--
rs2737799^1,2	--	48547112(+)	`TATTGC/TGGGGG`	2	A V	mis¹ ref¹		0	--	--	--	--
rs2737800^1,2	C	48549907(+)	`TTTAGA/CCTTAC`	1	--	ng3¹		0	--	--	--	--
rs3215413^1,2	--	48549380(+)	`ACTCT-/TAACTT`	1	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for WAS (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for WAS
1 CNV: 7789

QIAGEN SeqTarget long-range PCR primers for resequencing WAS

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

WAS for disorders About GeneDecksing

OMIM: 300392 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 X-linked severe congenital neutropenia (XLN) [MIM:300299]. XLN is an X-linked

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

monocytopenia

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

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)

About this table

GeneTests: WAS

WAS-Related Disorders

Locus Specific Mutation Databases (LSDB): WAS
Human Gene Mutation Database (HGMD): WAS
Genetic Association Database (GAD): WAS
Human Genome Epidemiology (HuGE) Navigator: WAS (0 documents)

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(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/390 PubMed articles for WAS gene, integrated from 7 sources (see all 390):
(articles sorted by number of sources associating them with WAS)

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PubMed id 7795648)^{1, 2, 3, 7} 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, 7} 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, 7} 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, 7} 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, 7} 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, 7} Cory G.O.C.... Ridley A.J. (2003)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)^{1, 2, 7} Devriendt K.... Vandenberghe P. (2001)
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PubMed id 9126958)^{1, 2, 7} 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, 7} 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, 7} Ramesh N.... Geha R.S. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7454	HGNC: 12731	AceView: WAS	Ensembl:ENSG00000015285	euGenes: HUgn7454
ECgene: WAS	Kegg: 7454	H-InvDB: WAS

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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
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Wiskott-Aldrich Syndrome
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protein-coding GIFtS: 71

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