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WAS Gene

protein-coding GIFtS: 72

GC0XP048427

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)

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

Aliases
IMD2 ^², ³, ⁵
OTTHUMP00000032395 ^²
THC ^²
THC1 ^², ⁵
WASP ^¹, ²
WASp ^³

Descriptions
Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ^²
Wiskott-Aldrich syndrome protein ^²
thrombocytopenia 1 (X-linked) ^¹, ²

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

Search outside databases for aliases for WAS gene

Previous GC identifers: GC0XP047344 GC0XP046802 GC0XP047588 GC0XP048298

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

EntrezGene 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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the WAS gene

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)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP048427: (about GC identifiers)

Start:	48,427,141 bp from pter
End:	48,434,759 bp from pter
Size:	7,619 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_079573.3

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

PDB structures from and Proteopedia :

1CEE (3D)

1EJ5 (3D)

1T84 (3D)

2A3Z (3D)

2K42 (3D)

2OT0 (3D)

Secondary accessions: Q9BU11 Q9UNJ9

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000368.1

ENSEMBL proteins:

ENSP00000365891

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for WAS
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (WASP )
	Human Recombinant Proteins from Abnova (WAS)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0012506	vesicle membrane	IEA	--
GO:0015629	actin cytoskeleton	TAS	8625410

About this table

Antibodies for WAS:

	Browse Antibodies Central at Invitrogen
	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)
	Antibodies from Abcam (WASP ), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (WAS)
	Novus Biologicals Antibodies for WAS

Assays for WAS:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (WAS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (WAS)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000377

Applied Biosystems Silencer® siRNAs for WAS

Sigma-Aldrich siRNA and siRNA Panels for WAS

Sigma-Aldrich shRNA Panels and shRNA for WAS

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for WAS
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000377
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000377
untagged cDNA clone in CMV expression vector: NM_000377

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000377

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

7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Was):

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005083	small GTPase regulator activity	TAS	8625410
GO:0042802	identical protein binding	IPI	12769847

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for WAS (Your Favorite Gene powered by Ingenuity) (see all 9 )

CD28 Signaling in T Helper Cells
Axonal Guidance Signaling
Leukocyte Extravasation Signaling
Regulation of Actin-based Motility by Rho
Ephrin Receptor Signaling

GeneDecks WAS for the pathways selected above

About GeneDecksing

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

5/80 Interacting proteins for WAS (ENSP00000365891³ P42768^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 80 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDC42P2	P60953¹^,²	STRING (score=.999) EBI-346375, EBI-81752 MINT-13944 MINT-13945 MINT-25018
HCK	P08631¹	STRING (score=.983) EBI-346375, EBI-346340
WIPF1	O43516¹	STRING (score=.999) EBI-346375, EBI-346356
FYN	P06241²	STRING (score=.999) MINT-50146 MINT-50144 MINT-14847 MINT-50145
NCK1	P16333²	STRING (score=.999) MINT-14451 MINT-14453 MINT-14452
PSTPIP1	O43586²	STRING (score=.993) MINT-50147 MINT-50148

About this table

5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

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:0008544	epidermis development	TAS	8069912

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(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

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for WAS
10/15 Novoseek chemical compound relationships for WAS gene (see all 15 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
wiskostatin	82.27	3	15235593 (1), 16472665 (1)
pip2	57.25	6	16006560 (3), 15260983 (1), 17302440 (1)
tyrosine	46.62	74	9731041 (5), 10590061 (5), 10532312 (3), 19234535 (3) (see all 26)
proline	36.37	6	11069762 (2), 12160237 (1), 8892607 (1), 17207458 (1)
gdp	7.34	1	10967094 (1)
hydrogen	3.30	2	11714264 (1), 15469902 (1)
phosphatidylinositol	2.08	6	16968699 (2), 9731041 (1), 12891007 (1), 10590061 (1)
calcium	1.37	2	16582881 (1), 15728466 (1)
atp	0.00	2	17251352 (1), 15094799 (1)
lipid	0.00	11	12196287 (4), 17854313 (1), 18483558 (1), 15509508 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (WAS)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (WAS)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000377

Sigma-Aldrich siRNA and siRNA Panels for WAS

Sigma-Aldrich shRNA Panels and shRNA for WAS

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000377

REFSEQ mRNAs for WAS gene:

NM_000377.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000377

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000377
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000377
                                 untagged cDNA clone in CMV expression vector: NM_000377

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 ):

BI766599 U19927 CR605612 BM458492 BM819869 AA312206 BE270046 BC002961

BQ012196 AW574817 CR605854 BM802845 BQ060937 BQ055374 BX283433 BM563924

CA427815 BC012738 BI764081 AA825986 BM849088 CR591854 H61193 BX411081

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

1 Ensembl transcript including schematic representation:

ENST00000376701

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

WAS expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for WAS

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	2	1.00	0.97	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	2	1.00	0.97	--	--	U12707	1.00	1.00	1.00	1
205400_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
38964_r_at²	U133Plus2	2	1.00	0.97	--	--	--	--	--	--	--

About this table

Data from

(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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, 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 (2.00 cM)⁵	Wiskott-Aldrich syndrome homolog (human)^{1, 5}	85.5(n)¹ 89.58(a)¹	22376¹ NM_009515.1¹ NP_033541.1¹ AL663032⁵ BC166000⁵ (see all 10)
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

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

Paralogs for WAS gene

WASL²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/25 NCBI SNPs in WAS are shown (see all 25 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 19)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs235422^1,2	C,F,H	48426845(+)	`AGCCCT/CGCACA`	1	--	ng5¹		4		EU EA WA	418
	rs4824726^1,2	H	48428385(+)	`CAAGGC/GTATCA`	1	--	int¹		4		EU EA WA	418
	rs2737796^1,2	H	48429544(+)	`ggtgcG/Ctaagt`	1	--	int¹		4		EU EA WA	418
	rs235423^1,2	C	48429594(+)	`cgagcA/Gggtgc`	1	--	int¹		0	--	--	--	--
	rs57489208^1,2	--	48432668(+)	`CCCCAA/GAGAGC`	1	E/K	mis¹		0	--	--	--	--
--	rs41298466^1,2	--	48426713(+)	`TGTCCC/GCAGCC`	1	--	ng5¹		0	--	--	--	--
	rs2737799^1,2	--	48432056(+)	`TATTGC/TGGGGG`	1	V/A	mis¹		0	--	--	--	--
	rs11545907^1,2	--	48427307(+)	`TTGGAC/TGAAAA`	1	R/X	non¹		0	--	--	--	--
	rs2737800^1,2	--	48434851(+)	`tttagA/Ccttac`	1	--	ng3¹		0	--	--	--	--
--	rs28935178^1,2	--	48427656(+)	`GCTGCC/GCCCTG`	1	P/R	mis¹ ese³		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for WAS (up to first 250kb)

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

OMIM: 300392 disorders: 301000 313900 300299 313900

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

10/19 Novoseek disease relationships for WAS gene (see all 19 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
wiskott-aldrich syndrome	98.98	330	17205972 (3), 15616597 (3), 9616151 (2), 8805332 (2) (see all 99)
thrombocytopenia 1	94.63	29	11877312 (2), 15203732 (2), 8743175 (2), 8528199 (2) (see all 22)
scar1	91.39	28	9889097 (6), 12601690 (5), 12429845 (4), 11747816 (3) (see all 6)
neutropenia, severe congenital, x-linked	89.48	3	11877312 (1), 15203732 (1), 11242115 (1)
eczema	82.77	9	10737997 (1), 12969986 (1), 10447259 (1), 12894849 (1) (see all 8)
thrombocytopenia	70.46	28	8528198 (4), 16522820 (2), 15218418 (2), 10737997 (1) (see all 16)
immunodeficiency	65.38	38	14612666 (2), 9616151 (1), 10737997 (1), 12367583 (1) (see all 35)
abnormal platelets	63.88	1	10397718 (1)
scar	51.85	32	14762109 (3), 11854309 (2), 18388318 (2), 15196561 (2) (see all 20)
x-linked agammaglobulinemia	42.39	1	10590061 (1)

About this table

GeneTests: WAS

WAS-Related Disorders

Human Gene Mutation Database: WAS
Genetic Association Database: WAS

(Possibly Related Articles in Doctor's Guide)
About This Section

ASCO: Gefitinib Demonstrates Efficacy for Treatment of Bronchioloalveolar Lung Cancer

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

10/352 PubMed articles for WAS gene (see all 352 ):

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (PubMed id 7795648)^{1, 2, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Cory G.O.C.... Ridley A.J. (2003)
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PubMed id 11242115)^{1, 3, 4} Devriendt K.... Vandenberghe P. (2001)
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PubMed id 9126958)^{1, 3, 4} Remold-O'Donnell E.... Rosen F.S. (1997)
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. (PubMed id 10447259)^{1, 3, 4} Lemahieu V.... Francke U. (1999)
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. (PubMed id 8528199)^{1, 3, 4} Derry J.M.J.... Francke U. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
About This Section

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

(According to HUGE)
About This Section

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

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.genetests.org/query?gene=WAS
Wikipedia	http://en.wikipedia.org/wiki/Wiskott-Aldrich_syndrome_protein

Licensable Technologies for WAS
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for WAS:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for WAS-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for WAS		Antibodies for WAS
	Explore super-pooled esiRNAs		Proteins for WAS
	Lentivirus-delivered shRNAs for WAS		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (WAS)
	Antibodies (WAS)
	Chimera RNAi (WAS)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for WAS (WASP)

	Recombinant Proteins (WASP )
	Antibodies (WASP )

Search OriGene for WAS

Search Tocris compounds for WAS

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for WAS

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
WAS Gene at Home site.
Version 2.41.1
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WAS Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for WAS

Summaries
for WAS

Genomic Location
for WAS

Proteins
for WAS

Protein Domains/
Families
for WAS

Gene Function
for WAS

Pathways & Interactions
for WAS

Drugs & Compounds
for WAS

Transcripts
for WAS

Expression
for WAS

Orthologs
for WAS

Paralogs
for WAS

SNPs/Variants
for WAS

Disorders & Mutations
for WAS

Medical News
for WAS

Publications
for WAS

Search for WAS

Genome Databases showing WAS

Other Databases showing WAS

Specialized Databases showing WAS

Licensable Technologies
for WAS

Services
for WAS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

WAS Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor WAS

Summariesfor WAS

Genomic Locationfor WAS

Proteinsfor WAS

Protein Domains/Familiesfor WAS

Gene Functionfor WAS

Pathways & Interactionsfor WAS

Drugs & Compoundsfor WAS

Transcriptsfor WAS

Expression for WAS

Orthologsfor WAS

Paralogsfor WAS

SNPs/Variantsfor WAS

Disorders & Mutationsfor WAS

Medical Newsfor WAS

Publicationsfor WAS

Search for WAS

Genome Databases showing WAS

Other Databases showing WAS

Specialized Databases showing WAS

Licensable Technologiesfor WAS

Servicesfor WAS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for WAS

Summaries
for WAS

Genomic Location
for WAS

Proteins
for WAS

Protein Domains/
Families
for WAS

Gene Function
for WAS

Pathways & Interactions
for WAS

Drugs & Compounds
for WAS

Transcripts
for WAS

Expression
for WAS

Orthologs
for WAS

Paralogs
for WAS

SNPs/Variants
for WAS

Disorders & Mutations
for WAS

Medical News
for WAS

Publications
for WAS

Licensable Technologies
for WAS

Services
for WAS