Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7454
Gene name Gene Name - the full gene name approved by the HGNC.	WASP actin nucleation promoting factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WAS
Synonyms (NCBI Gene) Gene synonyms aliases	IMD2, SCNX, THC, THC1, WASP, WASPA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	THC1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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 the

Show/Hide all(64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630268	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs132630269	C>T	Pathogenic	Coding sequence variant, missense variant
rs132630270	C>G	Pathogenic	Coding sequence variant, missense variant
rs132630271	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs132630272	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630273	C>T	Pathogenic	Coding sequence variant, missense variant
rs132630274	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630275	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs132630276	T>A	Pathogenic	Coding sequence variant, missense variant
rs139265251	G>A,C	Not-provided, pathogenic, benign	Coding sequence variant, missense variant
rs145040665	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150520117	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193922412	ACCGCCACC>-,ACCGCCACCACCGCCACC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion
rs193922414	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs193922415	C>T	Pathogenic	Coding sequence variant, stop gained
rs193922416	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs368151220	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs387906716	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906717	T>C	Pathogenic	Missense variant, coding sequence variant
rs587776742	A>T	Pathogenic	Missense variant, initiator codon variant
rs587776743	->ACGAGG	Pathogenic	Inframe insertion, coding sequence variant
rs587776744	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776745	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs781799471	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs782290433	G>A	Pathogenic	Coding sequence variant, missense variant
rs886039451	G>A,C	Likely-pathogenic, pathogenic	Intron variant
rs886041379	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057517845	G>A	Pathogenic	Splice donor variant
rs1057518633	->CCACCACC	Pathogenic	Frameshift variant, coding sequence variant
rs1057520700	G>A,C,T	Pathogenic	Splice donor variant
rs1064793292	->GGGAATGGACCAGCCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793293	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064793974	G>T	Pathogenic	Coding sequence variant, stop gained
rs1064794076	G>A	Pathogenic	Splice donor variant
rs1085307678	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557006239	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1557006316	TACCT>AACCTGGCGCTGCCCCC	Likely-pathogenic	Inframe indel, coding sequence variant
rs1557006354	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557006474	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1557006672	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1557007011	G>A	Pathogenic	Intron variant
rs1557007035	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557007123	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1557007165	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1557007312	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1569493877	T>A	Pathogenic	Splice donor variant
rs1569494025	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1602176146	CAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCCCC>-	Pathogenic	Splice donor variant, 5 prime UTR variant, initiator codon variant, intron variant
rs1602176222	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602176299	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602177243	G>T	Pathogenic	Coding sequence variant, stop gained
rs1602177562	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602177733	T>G	Pathogenic	Splice donor variant
rs1602178087	G>A	Pathogenic	Splice acceptor variant
rs1602178165	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602178184	TAGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602178267	G>A	Pathogenic	Intron variant
rs1602178800	A>G	Pathogenic	Splice acceptor variant
rs1602178952	G>TT	Pathogenic	Coding sequence variant, frameshift variant
rs1602179000	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602179794	CGGCAGGGAATTCAGCTGAACAAGGTGAGGACAGGCAGGATGGAGGATTGGGGGTCTAGGACTCTGGGGTGTCCCGTCTAAGTCAGGATACTGGGGGGCTGAGGCCAGGACTGAGGAGAGTGCCAGGCCTTAGGGATTCAGTGATAGGGTTGAAAGGTTGGTGGGAAGCCTTGAAGGGGACTGGAGTGTGTGGGAGAGAAAATATTGATGGAGGGGCGGGGAGAAATGCTCCTTTCCCAGGCCCTAAGCCCTCTG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1602179810	AGGTGAGGACA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1602180020	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602180058	C>T	Pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments
MIRT1488620	hsa-miR-1207-5p	CLIP-seq
MIRT1488621	hsa-miR-1224-5p	CLIP-seq
MIRT1488622	hsa-miR-1262	CLIP-seq
MIRT1488623	hsa-miR-1294	CLIP-seq
MIRT1488624	hsa-miR-3147	CLIP-seq
MIRT1488625	hsa-miR-3659	CLIP-seq
MIRT1488626	hsa-miR-4310	CLIP-seq
MIRT1488627	hsa-miR-4316	CLIP-seq
MIRT1488628	hsa-miR-4425	CLIP-seq
MIRT1488629	hsa-miR-4443	CLIP-seq
MIRT1488630	hsa-miR-4514	CLIP-seq
MIRT1488631	hsa-miR-4645-5p	CLIP-seq
MIRT1488632	hsa-miR-4658	CLIP-seq
MIRT1488633	hsa-miR-4673	CLIP-seq
MIRT1488634	hsa-miR-4692	CLIP-seq
MIRT1488635	hsa-miR-4701-3p	CLIP-seq
MIRT1488636	hsa-miR-4751	CLIP-seq
MIRT1488637	hsa-miR-4763-3p	CLIP-seq
MIRT1488638	hsa-miR-574-5p	CLIP-seq
MIRT1488639	hsa-miR-940	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
ETS1	Unknown	10066431
MYB	Unknown	10066431
SP1	Unknown	10066431
SPI1	Unknown	10066431

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002625	Process	Regulation of T cell antigen processing and presentation	IMP	22804504
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	8892607, 9405671, 9422512, 9660763, 10202051, 12029088, 12235133, 12591280, 15169891, 15361624, 16488394, 17213309, 17242350, 18650809, 19234535, 19487689, 19805221, 20936779, 21516116, 21988832, 22252508, 25416956, 25502805, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	20574068, 29925947
GO:0005829	Component	Cytosol	IDA	8625410
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IBA	21873635
GO:0005884	Component	Actin filament	IDA	8625410
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IEA
GO:0006952	Process	Defense response	TAS	8069912
GO:0006955	Process	Immune response	IMP	8069912
GO:0007266	Process	Rho protein signal transduction	IMP	8625410
GO:0007596	Process	Blood coagulation	TAS	8069912
GO:0008064	Process	Regulation of actin polymerization or depolymerization	IMP	8625410
GO:0008154	Process	Actin polymerization or depolymerization	TAS	8625410
GO:0008544	Process	Epidermis development	TAS	8069912
GO:0010591	Process	Regulation of lamellipodium assembly	IGI	8625410
GO:0012506	Component	Vesicle membrane	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	8625410
GO:0016197	Process	Endosomal transport	IEA
GO:0017124	Function	SH3 domain binding	IPI	8892607, 19798448
GO:0019901	Function	Protein kinase binding	IPI	8892607
GO:0030041	Process	Actin filament polymerization	IDA	29925947
GO:0030048	Process	Actin filament-based movement	IBA	21873635
GO:0030695	Function	GTPase regulator activity	TAS	8625410
GO:0031267	Function	Small GTPase binding	IPI	8625410, 10724160
GO:0032488	Process	Cdc42 protein signal transduction	IMP	8625410
GO:0035861	Component	Site of double-strand break	IDA	29925947
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042110	Process	T cell activation	IEA
GO:0042802	Function	Identical protein binding	IPI	10724160, 12769847, 18650809
GO:0043274	Function	Phospholipase binding	IPI	8892607
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20574068
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0051492	Process	Regulation of stress fiber assembly	IGI	8625410
GO:0051497	Process	Negative regulation of stress fiber assembly	IMP	8625410
GO:0065003	Process	Protein-containing complex assembly	TAS	8625410
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	29925947
GO:2000146	Process	Negative regulation of cell motility	IMP	22804504
GO:2000601	Process	Positive regulation of Arp2/3 complex-mediated actin nucleation	IEA
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IDA	29925947

MIM	HGNC	e!Ensembl
300392	12731	ENSG00000015285

Protein

UniProt ID

P42768

Protein name

Actin nucleation-promoting factor WAS (Wiskott-Aldrich syndrome protein) (WASp)

Protein function

Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:12235133, Pu

PDB

1CEE , 1EJ5 , 1T84 , 2A3Z , 2K42 , 2OT0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00568	WH1	36 → 145	WH1 domain	Domain
PF00786	PBD	237 → 296	P21-Rho-binding domain	Domain
PF02205	WH2	427 → 454	WH2 motif	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. {ECO:0000269|PubMed:8069912}.

Sequence

MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG
AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD
DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH
PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA
PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL
EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP
PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV
PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA
IHSSDEGEDQAGDEDEDDEWDD

Sequence length

502

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Thrombocytopenia	thrombocytopenia 1			GenCC

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text Mining
Acquired Immunodeficiency Syndrome	Associate	9024694
Anemia Hemolytic Autoimmune	Associate	31354712
Arthritis Rheumatoid	Associate	40048636
Autoimmune Diseases	Associate	24872192, 31354712, 37478401
Bacterial Infections	Associate	12969986
Blast Crisis	Inhibit	29022901
Blood Platelet Disorders	Associate	10397718, 9376590
Bruton type agammaglobulinemia	Associate	10590061, 10688822, 22927353, 30564228
Carcinogenesis	Inhibit	29022901
Carcinoma Renal Cell	Associate	37122750
Cerebral Infarction	Associate	38575196
Colorectal Neoplasms	Associate	37950620
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	16709815
COVID 19	Associate	33329599, 36052061
Death	Associate	12969986, 22523910
Dermatitis Atopic	Associate	11800140
Eczema	Associate	11800140, 12969986, 24369837, 29358862
Eczema	Inhibit	37478401
Glomerulonephritis IGA	Associate	31354712
Hemorrhagic Disorders	Associate	37478401
Immunologic Deficiency Syndromes	Associate	10512884, 10590061, 24369837, 26261240, 29248492, 9376590
Infections	Associate	12743306, 16709815
Inflammation	Associate	26261240
Inflammatory Bowel Diseases	Associate	29358862
Intestinal Diseases	Associate	12969986
Intracranial Hemorrhages	Associate	12969986
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	29022901
Metabolic Diseases	Associate	33135633
Mycoses	Associate	12969986
Neoplasms	Associate	12969986, 29022901, 29248492, 29845225, 37122750, 37950620
Neoplasms	Stimulate	24369837
Neural Tube Defects	Associate	20354175
Neuropathy Hereditary Sensory X Linked	Associate	17312144
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	21891829, 23454784
Neutropenia Severe Congenital X Linked	Associate	11877312, 19006568, 25200405
Neutropenia Severe Congenital X Linked	Stimulate	29248492
Pneumocystis Infections	Associate	12969986
Primary Immunodeficiency Diseases	Associate	10449748, 12177428, 22927353, 30564228, 32503528
Purpura Thrombocytopenic Idiopathic	Associate	31354712
Rare Diseases	Associate	27643436
Retinoblastoma	Associate	34187205
Severe Combined Immunodeficiency	Associate	22927353, 30564228
Skin Manifestations	Associate	24369837
Subarachnoid Hemorrhage	Associate	12969986
Thrombocytopenia	Associate	10590061, 11877312, 26502776
Thrombocytopenia	Stimulate	32503528
Thrombocytopenia 1	Associate	10583210, 11877312, 12969986, 15001467, 15284122, 20130240, 25200405, 25253772, 26277674, 29358862, 9616151
Venom Hypersensitivity	Associate	26368308
Wiskott Aldrich Syndrome	Associate	10449748, 10572103, 10590061, 10706671, 11290809, 11313252, 11442475, 11877312, 12135674, 12149199, 12196287, 12969986, 15030520, 15985539, 16582881 View all (33 more)
Wiskott Aldrich Syndrome	Stimulate	15284122
Wiskott Aldrich Syndrome	Inhibit	17890224
X Linked Combined Immunodeficiency Diseases	Associate	24872192

WAS (WASP actin nucleation promoting factor)