Aliases for WAS Gene
Aliases for WAS Gene
External Ids for WAS Gene
- HGNC: 12731
- Entrez Gene: 7454
- Ensembl: ENSG00000015285
- OMIM: 300392
- UniProtKB: P42768
Previous HGNC Symbols for WAS Gene
- IMD2
- THC
Previous GeneCards Identifiers for WAS Gene
- GC0XP047344
- GC0XP046802
- GC0XP047588
- GC0XP048298
- GC0XP048427
- GC0XP048534
- GC0XP046204
Summaries for WAS 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 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]
GeneCards Summary for WAS Gene
WAS (Wiskott-Aldrich Syndrome) is a Protein Coding gene. Diseases associated with WAS include Wiskott-Aldrich Syndrome and Thrombocytopenia 1. Among its related pathways are Cytoskeletal Signaling and B Cell Receptor Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is WASL.
UniProtKB/Swiss-Prot for WAS Gene
-
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.
Additional gene information for WAS Gene
- Monarch Initiative
- Search for WAS at DataMed
- Search for WAS at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WAS Gene
Genomics for WAS Gene
GeneHancer (GH) Regulatory Elements for WAS Gene
Promoters and enhancers for WAS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around WAS on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the WAS gene promoter:
-
- PPAR-alpha
- PPAR-gamma2
- PPAR-gamma1
- CREB
- deltaCREB
Regulatory Element Products
Genomic Locations for WAS Gene
Genomic Locations for WAS Gene
- chrX:48,676,596-48,691,427
- (GRCh38/hg38)
- Size:
- 14,832 bases
- Orientation:
- Plus strand
- chrX:48,534,985-48,549,818
- (GRCh37/hg19)
- Size:
- 14,834 bases
- Orientation:
- Plus strand
Genomic View for WAS Gene
Genes around WAS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.23 by Entrez Gene
- Xp11.23 by HGNC
- Xp11.23 by Ensembl
WAS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for WAS Gene
Proteins for WAS Gene
-
Protein details for WAS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P42768-WASP_HUMAN
- Recommended name:
- Wiskott-Aldrich syndrome protein
- Protein Accession:
- P42768
- Q9BU11
- Q9UNJ9
Protein attributes for WAS Gene
- Size:
- 502 amino acids
- Molecular mass:
- 52913 Da
- Quaternary structure:
-
- 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).
- SequenceCaution:
-
- Sequence=AAH02961.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH02961.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for WAS Gene
Post-translational modifications for WAS Gene
- 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 formation.
- Ubiquitination at isoforms=147, isoforms=144, and posLast=7676
- Modification sites at PhosphoSitePlus
Other Protein References for WAS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for WAS (WASP)
-
Custom Antibody ServicesOriGene Antibodies for WAS
- Novus Biologicals Antibodies for WAS
-
Abcam antibodies for WAS
- Invitrogen Antibodies for WAS
- GeneTex WAS Antibody for WAS
-
Boster Bio Antibodies for WAS
-
Santa Cruz Biotechnology (SCBT) Antibodies for WAS
Protein Products
-
OriGene Purified Proteins for WAS
- Search Origene for MassSpec and Protein Over-expression Lysates for WAS
- Origene Custom Protein Services for WAS
- antibodies-online: Search results for available THC related products ranked by validation data
- Search GeneTex for Proteins for WAS
-
Abcam proteins for WAS
No data available for DME Specific Peptides for WAS Gene
Domains & Families for WAS Gene
Gene Families for WAS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for WAS Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for WAS Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P42768- Domain:
-
- The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand.
- 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.
Function for WAS Gene
Molecular function for WAS Gene
- UniProtKB/Swiss-Prot 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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 7565724 |
| GO:0017124 | SH3 domain binding | IPI | 8892607 |
| GO:0019901 | protein kinase binding | IPI | 8892607 |
| GO:0030695 | GTPase regulator activity | TAS | 8625410 |
Phenotypes for WAS Gene
- MGI mutant phenotypes for WAS:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for WAS:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for WAS
-
CRISPR Products
-
OriGene CRISPR knockouts for WAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAS
- genomics-online: gRNA clones - Search results for available THC gene related products
- Applied Biological Materials CRISPR for WAS
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for WAS
- GenScript: Design CRISPR guide RNA sequences for WAS
miRNA for WAS Gene
- miRTarBase miRNAs that target WAS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WAS
- Browse OriGene Inhibitory RNA Products For WAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAS
- genomics-online: shRNA clones - Search results for available THC gene related products
Clone Products
- Sino Biological Human cDNA Clone for WAS
- VectorBuilder custom plasmid, inducible vectors for WAS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WAS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for WAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAS
- genomics-online: cdna clones - Search results for available THC gene related products
- orf clones - Search results for available THC gene related products
- Applied Biological Materials Clones for WAS
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for WAS
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for WAS Gene
Localization for WAS Gene
Subcellular locations from UniProtKB/Swiss-Prot for WAS Gene
- Cytoplasm, cytoskeleton.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 2 |
| endosome | 2 |
| mitochondrion | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005884 | actin filament | IDA | 8625410 |
| GO:0005911 | cell-cell junction | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for WAS Gene
Pathways & Interactions for WAS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of actin dynamics for phagocytic cup formation | ||
| 2 | Development Slit-Robo signaling | ||
| 3 | Regulation of actin cytoskeleton | ||
| 4 | Actin Nucleation by ARP-WASP Complex |
.41
|
|
| 5 | PAK Pathway |
.56
|
|
Pathways by source for WAS Gene
1 Sino Biological pathway for WAS Gene
5 BioSystems pathways for WAS Gene
11 Reactome pathways for WAS Gene
11 KEGG pathways for WAS Gene
6 GeneGo (Thomson Reuters) pathways for WAS Gene
13 Qiagen pathways for WAS Gene
1 Cell Signaling Technology pathway for WAS Gene
Interacting Proteins for WAS Gene
Selected Interacting proteins:
P42768-WASP_HUMAN
ENSP00000365891
for WAS Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for WAS
SIGNOR curated interactions for WAS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000147 | actin cortical patch assembly | IBA | -- |
| GO:0002625 | regulation of T cell antigen processing and presentation | IMP | 22804504 |
| GO:0006897 | endocytosis | IBA | -- |
| GO:0006952 | defense response | TAS | 8069912 |
| GO:0006955 | immune response | IMP | 8069912 |
Drugs & Compounds for WAS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| (S)-Wiskostatin | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for WAS Gene
mRNA/cDNA for WAS Gene
- (3) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (111) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000450772 933 bps (uc064yzr.1)
- ENST00000376701 1849 bps (uc004dkm.5)
- ENST00000465982 718 bps (uc064yzs.1)
- ENST00000483750 905 bps (uc064yzt.1)
- ENST00000490627 247 bps (uc064yzu.1)
Unigene Clusters for WAS Gene
- Wiskott-Aldrich syndrome:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for WAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAS
- genomics-online: gRNA clones - Search results for available THC gene related products
- Applied Biological Materials CRISPR for WAS
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for WAS
- GenScript: Design CRISPR guide RNA sequences for WAS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WAS
- Browse OriGene Inhibitory RNA Products For WAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAS
- genomics-online: shRNA clones - Search results for available THC gene related products
Clone Products
- Sino Biological Human cDNA Clone for WAS
- VectorBuilder custom plasmid, inducible vectors for WAS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WAS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for WAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAS
- genomics-online: cdna clones - Search results for available THC gene related products
- orf clones - Search results for available THC gene related products
- Applied Biological Materials Clones for WAS
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for WAS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Brain (Nervous System)
- Umbilical Cord (Extraembryonic Tissues)
- Bone (Muscoskeletal System)
- Blood (Hematopoietic System)
-
Spleen (Hematopoietic System)
-
Lymph (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for WAS Gene
This gene is overexpressed in Whole Blood (x33.1) and Spleen (x4.5).
This gene is overexpressed in Peripheral blood mononuclear cells (24.9), Lymph node (12.6), and Blymphocyte (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WAS Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of WAS Gene:
WASSOURCE GeneReport for Unigene cluster for WAS Gene:
Hs.2157mRNA Expression by UniProt/SwissProt for WAS Gene:
P42768-WASP_HUMAN
Tissue specificity:
Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.
Evidence on tissue expression from TISSUES for WAS Gene
- Blood(4.7)
- Liver(4.2)
- Lymph node(2.8)
- Spleen(2.8)
- Bone marrow(2.5)
- Intestine(2.2)
- Nervous system(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for WAS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- face
- head
- larynx
- meninges
- middle ear
- mouth
- neck
- nose
- pharynx
- sinus
- skull
Thorax:
- bronchus
- esophagus
- lung
- trachea
Abdomen:
- duodenum
- intestine
- kidney
- large intestine
- small intestine
- stomach
Pelvis:
- anus
- ureter
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for WAS
-
OriGene qPCR primer pairs for WAS
- genomics-online: primer clones - Search results for available THC gene related products
Gene Expression Assay Products
Orthologs for WAS Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | WAS 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Was 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Was 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | WAS 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | WAS 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | WAS 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | WAS 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | wasa 34 33 |
|
OneToMany | |
| wasb 34 |
|
OneToMany | |||
| WAS (3 of 3) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | WASp 34 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LAS17 36 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5291 34 |
|
OneToMany |
- Species where no ortholog for WAS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for WAS Gene
- ENSEMBL:
- Gene Tree for WAS (if available)
- TreeFam:
- Gene Tree for WAS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for WAS: view image
Paralogs for WAS Gene
(2) SIMAP similar genes for WAS Gene using alignment to 2 proteins:
- WASP_HUMAN
- C9J3B7_HUMAN
Variants for WAS Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057517845 | pathogenic, not provided, Severe congenital neutropenia X-linked, Thrombocytopenia, X-linked, Wiskott-Aldrich syndrome | 48,688,097(+) | G/A | splice_donor_variant | |
| rs132630268 | pathogenic, Wiskott-Aldrich syndrome, not provided, Wiskott-Aldrich syndrome (WAS) [MIM:301000], Wiskott-Aldrich syndrome (WAS) [MIM:301000] | 48,684,407(+) | G/A/T | coding_sequence_variant, missense_variant | |
| rs132630269 | pathogenic, Thrombocytopenia, X-linked, Thrombocytopenia 1 (THC1) [MIM:313900] | 48,684,317(+) | C/T | coding_sequence_variant, missense_variant | |
| rs132630270 | pathogenic, Thrombocytopenia, X-linked | 48,686,928(+) | C/G | coding_sequence_variant, missense_variant | |
| rs132630271 | pathogenic, Wiskott-Aldrich syndrome | 48,683,953(+) | C/A/T | coding_sequence_variant, stop_gained, synonymous_variant |
Residual Variation Intolerance Score:
58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.14;
23.05% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for WAS Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WAS Gene
Disorders for WAS Gene
(16) MalaCards diseases for WAS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wiskott-aldrich syndrome |
|
|
| thrombocytopenia 1 |
|
|
| neutropenia, severe congenital, x-linked |
|
|
| thrombocytopenia |
|
|
| spinocerebellar ataxia, autosomal recessive 1 |
|
Search WAS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
WASP_HUMAN- Wiskott-Aldrich syndrome (WAS) [MIM:301000]: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. {ECO:0000269 PubMed:10447259, ECO:0000269 PubMed:11793485, ECO:0000269 PubMed:7753869, ECO:0000269 PubMed:8528198, ECO:0000269 PubMed:8528199, ECO:0000269 PubMed:8682510, ECO:0000269 PubMed:9098856, ECO:0000269 PubMed:9126958, ECO:0000269 PubMed:9445409, ECO:0000269 PubMed:9683546, ECO:0000269 PubMed:9713366}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Thrombocytopenia 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. {ECO:0000269 PubMed:10447259, ECO:0000269 PubMed:11167787, ECO:0000269 PubMed:11877312, ECO:0000269 PubMed:7795648, ECO:0000269 PubMed:8528199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Neutropenia, severe congenital, X-linked (XLN) [MIM:300299]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269 PubMed:11242115}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for WAS
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for WAS Gene
Publications for WAS Gene
- Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation. (PMID: 15235593) Peterson JR … Rosen MK (Nature structural & molecular biology 2004) 3 4 22 58
- Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP. (PMID: 12769847) Cory GO … Ridley AJ (Molecular cell 2003) 3 4 22 58
- Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein. (PMID: 12235133) Cory GO … Ridley AJ (The Journal of biological chemistry 2002) 3 4 22 58
- Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. (PMID: 11242115) Devriendt K … Vandenberghe P (Nature genetics 2001) 3 4 22 58
- The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene. (PMID: 10066431) Hagemann TL … Kwan SP (Biochemical and biophysical research communications 1999) 3 4 22 58
Products for WAS Gene
- R&D Systems Antibodies for WAS (WASP)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for WAS
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for WAS
- Search Origene for MassSpec and Protein Over-expression Lysates for WAS
- Origene Custom Protein Services for WAS
- Origene shrna, sirna, and RNAi products in human, mouse, rat for WAS
- Browse OriGene Inhibitory RNA Products For WAS
- OriGene qPCR primer pairs and template standards for WAS
- OriGene qPCR primer pairs for WAS
- OriGene CRISPR knockouts for WAS
- OriGene ORF clones in human for WAS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For WAS
- GenScript: Next-day shipping of latest version cDNA ORF clones for WAS in any vector
- GenScript Custom Purified and Recombinant Proteins Services for WAS
- GenScript Custom Assay Services for WAS
- GenScript Custom overexpressing Cell Line Services for WAS
- GenScript: Design CRISPR guide RNA sequences for WAS
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for WAS
- Sino Biological Human cDNA Clone for WAS
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for WAS
- Novus Biologicals lysates and proteins for WAS
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for WAS
- Abcam proteins for WAS
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cyagen custom Knockout/knockin (KOKI) mouse models for WAS
- VectorBuilder custom plasmid, inducible vectors for WAS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for WAS
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for WAS
- antibodies-online: Search results for 130 available THC Antibodies ranked by validation data
- Compare Top THC Antibodies
- Quality Products:
- antibodies-online: Search results for available THC related products ranked by validation data
- antibodies-online: Search results for available THC related products ranked by validation data
- GeneTex WAS Antibody for WAS
- Search GeneTex for Proteins for WAS
- Santa Cruz Biotechnology (SCBT) Antibodies for WAS
- Search Santa Cruz Biotechnology (SCBT) for WAS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for WAS
- Horizon Cell Lines for WAS
- genomics-online: cdna clones - Search results for available THC gene related products
- orf clones - Search results for available THC gene related products
- genomics-online: gRNA clones - Search results for available THC gene related products
- genomics-online: primer clones - Search results for available THC gene related products
- genomics-online: shRNA clones - Search results for available THC gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for WAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for WAS
- GeneCopoeia miRNA 3'UTR Target clone products for WAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WAS
- Boster Bio Antibodies for WAS
- Browse Boster Bio ELISA Kits
Sources for WAS Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt