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Aliases for WASF2 Gene

Aliases for WASF2 Gene

  • WAS Protein Family Member 2 2 3 5
  • Verprolin Homology Domain-Containing Protein 2 3 4
  • WASP Family Protein Member 2 3 4
  • Protein WAVE-2 3 4
  • WAVE2 3 4
  • Putative Wiskott-Aldrich Syndrome Protein Family Member 4 3
  • Wiskott-Aldrich Syndrome Protein Family Member 2 3
  • Suppressor Of Cyclic-AMP Receptor (WASP-Family) 3
  • WASP Family Verprolin-Homologous Protein 2 3
  • WAS Protein Family, Member 2 2
  • WASP Family Protein Member 4 3
  • DJ393P12.2 3
  • SCAR2 3
  • WASF4 3
  • IMD2 3

External Ids for WASF2 Gene

Previous GeneCards Identifiers for WASF2 Gene

  • GC01P027836
  • GC01M026766
  • GC01M026965
  • GC01M027338
  • GC01M027336
  • GC01M027416
  • GC01M027603
  • GC01M027730

Summaries for WASF2 Gene

Entrez Gene Summary for WASF2 Gene

  • This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for WASF2 Gene

WASF2 (WAS Protein Family Member 2) is a Protein Coding gene. Diseases associated with WASF2 include Wiskott-Aldrich Syndrome and Narcissistic Personality Disorder. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include actin binding and protein complex binding. An important paralog of this gene is WASF1.

UniProtKB/Swiss-Prot for WASF2 Gene

  • Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex.

Gene Wiki entry for WASF2 Gene

Additional gene information for WASF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASF2 Gene

Genomics for WASF2 Gene

GeneHancer (GH) Regulatory Elements for WASF2 Gene

Promoters and enhancers for WASF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I027487 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 574.2 -0.5 -509 5.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 MCM3 WASF2 ARID1A ACTG1P20 GPN2 FAM76A PHACTR4 NPM1P39 MAP3K6 ENSG00000231344 LOC101928728
GH01I027516 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 25.6 -33.6 -33626 13.7 ZFP64 DMAP1 YY1 ZNF548 ZNF263 MCM3 SP3 MEF2D SSRP1 GLIS1 LOC105376892 ARID1A ACTG1P20 MAP3K6 FAM76A PHACTR4 NPM1P39 EYA3 WASF2 GPN2
GH01I028171 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.5 -684.2 -684214 6.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT FEZF1 YBX1 IRF4 ZNF766 ZNF213 PTAFR SNHG12 GMEB1 TRNAU1AP ACTG1P20 YTHDF2 PHACTR4 NPM1P39 SNORA73B ENSG00000231344
GH01I026618 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.3 +869.8 869791 4 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ARID1A HMGN2 ACTG1P20 GPN2 ZNF593 GPATCH3 AHDC1 RPL17P9 LOC101928324 NPM1P39
GH01I027614 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.1 -135.7 -135651 23.4 HDGF PKNOX1 FOXA2 SMAD1 SIN3A YBX1 IRF4 ZNF121 ZNF207 ZNF143 FGR ACTG1P20 ARID1A EYA3 FAM76A TRNAU1AP NPM1P39 THEMIS2 PTAFR SNHG12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WASF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WASF2 gene promoter:

Genomic Locations for WASF2 Gene

Genomic Locations for WASF2 Gene
chr1:27,404,226-27,490,187
(GRCh38/hg38)
Size:
85,962 bases
Orientation:
Minus strand
chr1:27,730,730-27,816,678
(GRCh37/hg19)

Genomic View for WASF2 Gene

Genes around WASF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASF2 Gene

Proteins for WASF2 Gene

  • Protein details for WASF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6W5-WASF2_HUMAN
    Recommended name:
    Wiskott-Aldrich syndrome protein family member 2
    Protein Accession:
    Q9Y6W5
    Secondary Accessions:
    • B4DZN0
    • O60794
    • Q9UDY7

    Protein attributes for WASF2 Gene

    Size:
    498 amino acids
    Molecular mass:
    54284 Da
    Quaternary structure:
    • Binds actin and the Arp2/3 complex. Interacts with BAIAP2. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 (NCKAP1l/HEM1 in hematopoietic cells) and WASF2/WAVE2 (PubMed:16417406). Directly interacts with BRK1. Interacts with human cytomegalovirus protein UL135. Interacts with FNBP1L (via the SH3 domain) (PubMed:19798448).

    Three dimensional structures from OCA and Proteopedia for WASF2 Gene

    Alternative splice isoforms for WASF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASF2 Gene

Post-translational modifications for WASF2 Gene

No Post-translational modifications

Other Protein References for WASF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WASF2 Gene

Domains & Families for WASF2 Gene

Gene Families for WASF2 Gene

Protein Domains for WASF2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y6W5

UniProtKB/Swiss-Prot:

WASF2_HUMAN :
  • Binds and activates the Arp2/3 complex via the C-terminal domain. Interacts with actin via the WH2 domain.
  • Belongs to the SCAR/WAVE family.
Domain:
  • Binds and activates the Arp2/3 complex via the C-terminal domain. Interacts with actin via the WH2 domain.
Family:
  • Belongs to the SCAR/WAVE family.
genes like me logo Genes that share domains with WASF2: view

Function for WASF2 Gene

Molecular function for WASF2 Gene

GENATLAS Biochemistry:
WAS protein family,member 2,widely expressed especially in peripheral blood leukocytes,associating with the Arp2/3 complex a nucleating core for actin polymerization in vitro
UniProtKB/Swiss-Prot Function:
Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex.

Phenotypes From GWAS Catalog for WASF2 Gene

Gene Ontology (GO) - Molecular Function for WASF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS --
GO:0005515 protein binding IPI 11130076
GO:0017124 SH3 domain binding IPI 19798448
GO:0032403 protein complex binding IMP 21107423
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with WASF2: view
genes like me logo Genes that share phenotypes with WASF2: view

Animal Models for WASF2 Gene

MGI Knock Outs for WASF2:

Animal Model Products

miRNA for WASF2 Gene

miRTarBase miRNAs that target WASF2

Clone Products

  • Addgene plasmids for WASF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WASF2 Gene

Localization for WASF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASF2 Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Note=At the interface between the lamellipodial actin meshwork and the membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WASF2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
plasma membrane 3
nucleus 3
endosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WASF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005622 intracellular IDA 17101133
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with WASF2: view

Pathways & Interactions for WASF2 Gene

genes like me logo Genes that share pathways with WASF2: view

SIGNOR curated interactions for WASF2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for WASF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001667 ameboidal-type cell migration IEA --
GO:0006897 endocytosis IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS 9732292
GO:0010592 positive regulation of lamellipodium assembly IMP 18560548
genes like me logo Genes that share ontologies with WASF2: view

Drugs & Compounds for WASF2 Gene

(1) Drugs for WASF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with WASF2: view

Transcripts for WASF2 Gene

mRNA/cDNA for WASF2 Gene

Unigene Clusters for WASF2 Gene

WAS protein family, member 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for WASF2

Alternative Splicing Database (ASD) splice patterns (SP) for WASF2 Gene

No ASD Table

Relevant External Links for WASF2 Gene

GeneLoc Exon Structure for
WASF2
ECgene alternative splicing isoforms for
WASF2

Expression for WASF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WASF2 Gene

Protein differential expression in normal tissues from HIPED for WASF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.7) and Cervix (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WASF2 Gene



Protein tissue co-expression partners for WASF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WASF2 Gene:

WASF2

SOURCE GeneReport for Unigene cluster for WASF2 Gene:

Hs.469244

mRNA Expression by UniProt/SwissProt for WASF2 Gene:

Q9Y6W5-WASF2_HUMAN
Tissue specificity: Expressed in all tissues with strongest expression in placenta, lung, and peripheral blood leukocytes, but not in skeletal muscle.

Evidence on tissue expression from TISSUES for WASF2 Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Skin(3)
  • Pancreas(2.5)
  • Blood(2.3)
  • Heart(2.2)
  • Kidney(2.1)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with WASF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASF2 Gene

Orthologs for WASF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WASF2 33 34
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia WASF2 33 34
  • 93.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WASF2 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WASF2 33 34
  • 88.25 (n)
oppossum
(Monodelphis domestica)
Mammalia WASF2 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wasf2 33 16 34
  • 84.38 (n)
chicken
(Gallus gallus)
Aves WASF2 33 34
  • 78.27 (n)
lizard
(Anolis carolinensis)
Reptilia WASF2 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4474 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6669 33
zebrafish
(Danio rerio)
Actinopterygii wasf2 33 34
  • 70.54 (n)
zgc56010 33
fruit fly
(Drosophila melanogaster)
Insecta SCAR 35 34
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea wve-1 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2335 34
  • 41 (a)
OneToMany
Species where no ortholog for WASF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for WASF2 Gene

ENSEMBL:
Gene Tree for WASF2 (if available)
TreeFam:
Gene Tree for WASF2 (if available)

Paralogs for WASF2 Gene

Paralogs for WASF2 Gene

(2) SIMAP similar genes for WASF2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for WASF2 Gene

genes like me logo Genes that share paralogs with WASF2: view

Variants for WASF2 Gene

Sequence variations from dbSNP and Humsavar for WASF2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000012443 -- 27,437,738(-) T/C intron_variant
rs1000016163 -- 27,478,479(-) T/C/G intron_variant
rs1000022915 -- 27,463,801(-) A/T intron_variant
rs1000028274 -- 27,421,430(-) C/T intron_variant
rs1000131181 -- 27,474,105(-) C/CC intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WASF2 Gene

Variant ID Type Subtype PubMed ID
dgv14n27 CNV loss 19166990
dgv219n54 CNV loss 21841781
esv2049917 CNV deletion 18987734
esv2248480 CNV deletion 18987734
esv2459986 CNV deletion 19546169
esv2661510 CNV deletion 23128226
esv2671164 CNV deletion 23128226
esv2745730 CNV deletion 23290073
esv2763086 CNV gain 21179565
esv3559915 CNV deletion 23714750
esv3585559 CNV loss 21293372
esv4796 CNV loss 18987735
nsv1152906 CNV deletion 26484159
nsv159932 CNV deletion 16902084
nsv516766 CNV loss 19592680
nsv526051 CNV gain 19592680
nsv950342 CNV deletion 24416366

Variation tolerance for WASF2 Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WASF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASF2 Gene

Disorders for WASF2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for WASF2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
narcissistic personality disorder
tobacco addiction
  • tobacco addiction, susceptibility to
avoidant personality disorder
  • anxious personality disorder
dependent personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search WASF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WASF2

genes like me logo Genes that share disorders with WASF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASF2 Gene

Publications for WASF2 Gene

  1. Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. (PMID: 10381382) Suetsugu S … Takenawa T (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. Hem-1 complexes are essential for Rac activation, actin polymerization, and myosin regulation during neutrophil chemotaxis. (PMID: 16417406) Weiner OD … Kirschner MW (PLoS biology 2006) 3 4 22 58
  3. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4 58
  4. Requirements for F-BAR proteins TOCA-1 and TOCA-2 in actin dynamics and membrane trafficking during Caenorhabditis elegans oocyte growth and embryonic epidermal morphogenesis. (PMID: 19798448) Giuliani C … Scita G (PLoS genetics 2009) 3 4 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for WASF2 Gene

Sources for WASF2 Gene

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