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... See more...

Aliases for WASF3 Gene

Aliases for WASF3 Gene

  • WASP Family Member 3 2 3 5
  • Wiskott-Aldrich Syndrome Protein Family Member 3 3 4
  • Verprolin Homology Domain-Containing Protein 3 3 4
  • WAS Protein Family Member 3 2 3
  • Protein WAVE-3 3 4
  • SCAR3 3 4
  • WAVE3 3 4
  • WASP Family Verprolin-Homologous Protein 3 3
  • WASP Family Protein Member 3 4
  • WAS Protein Family, Member 3 2
  • KIAA0900 4
  • Brush-1 3

External Ids for WASF3 Gene

Previous GeneCards Identifiers for WASF3 Gene

  • GC13P025111
  • GC13P021111
  • GC13P026061
  • GC13P024929
  • GC13P026029
  • GC13P027132
  • GC13P008010

Summaries for WASF3 Gene

Entrez Gene Summary for WASF3 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. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]

GeneCards Summary for WASF3 Gene

WASF3 (WASP Family Member 3) is a Protein Coding gene. Diseases associated with WASF3 include Wiskott-Aldrich Syndrome and Ganglioneuroblastoma. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is WASF1.

UniProtKB/Swiss-Prot Summary for WASF3 Gene

  • Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Wiki entry for WASF3 Gene

Additional gene information for WASF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WASF3 Gene

Genomics for WASF3 Gene

GeneHancer (GH) Regulatory Elements for WASF3 Gene

Promoters and enhancers for WASF3 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
GH13J026557 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 511.5 +1.2 1150 3.9 USF1 SP1 ZFX ZIC2 POLR2A TCF7 ZBTB26 TRIM28 RFX1 CHD1 WASF3 RF00017-1373
GH13J027250 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.8 +694.4 694418 4.6 RXRA ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 MYC POLR2G GTF2E2 RPL21 LINC02340 LINC00412 NONHSAG013078.2 SNORA27 USP12 PAN3 WASF3 RASL11A PAN3-AS1
GH13J026583 Enhancer 0.6 ENCODE 20.1 +26.9 26934 2 JUND OSR2 EZH2 MAFK FOXA1 FOS ZNF335 GLIS1 GATA2 JUN WASF3 RPS3AP44 piR-48209-146
GH13J026615 Enhancer 0.5 Ensembl ENCODE 22.1 +58.6 58598 1.8 FOS STAT3 piR-52294-042 WASF3 WASF3-AS1 piR-31534-135
GH13J026604 Enhancer 0.6 Ensembl ENCODE 19.9 +47.1 47117 1.6 NR2F2 RXRA SP1 WASF3 WASF3-AS1 piR-31534-135 piR-52294-042
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WASF3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for WASF3

Genomic Locations for WASF3 Gene

Genomic Locations for WASF3 Gene
chr13:26,557,683-26,688,948
(GRCh38/hg38)
Size:
131,266 bases
Orientation:
Plus strand
chr13:27,131,840-27,263,085
(GRCh37/hg19)
Size:
131,246 bases
Orientation:
Plus strand

Genomic View for WASF3 Gene

Genes around WASF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASF3 Gene

Proteins for WASF3 Gene

  • Protein details for WASF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPY6-WASF3_HUMAN
    Recommended name:
    Wiskott-Aldrich syndrome protein family member 3
    Protein Accession:
    Q9UPY6
    Secondary Accessions:
    • O94974
    • Q86VQ2

    Protein attributes for WASF3 Gene

    Size:
    502 amino acids
    Molecular mass:
    55293 Da
    Quaternary structure:
    • Binds actin and the Arp2/3 complex.
    SequenceCaution:
    • Sequence=BAA74923.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for WASF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASF3 Gene

Post-translational modifications for WASF3 Gene

  • Phosphorylation by ABL1 promotes lamellipodia formation and cell migration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WASF3 Gene

No data available for DME Specific Peptides for WASF3 Gene

Domains & Families for WASF3 Gene

Gene Families for WASF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for WASF3 Gene

Blocks:
  • Actin-binding WH2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WASF3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76648, highly similar to Homo sapiens WAS protein family, member 3 (WASF3), mRNA (Q5T8P4_HUMAN)
  • WASF3 protein (Q86VQ2_HUMAN)
  • Verprolin homology domain-containing protein 3 (WASF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPY6

UniProtKB/Swiss-Prot:

WASF3_HUMAN :
  • Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.
  • Belongs to the SCAR/WAVE family.
Domain:
  • Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.
Family:
  • Belongs to the SCAR/WAVE family.
genes like me logo Genes that share domains with WASF3: view

Function for WASF3 Gene

Molecular function for WASF3 Gene

UniProtKB/Swiss-Prot Function:
Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
GENATLAS Biochemistry:
WAS protein family,member 3,widely expressed,strongly in brain,associating with the Arp2/3 complex a nucleating core for actin polymerization in vitro

Phenotypes From GWAS Catalog for WASF3 Gene

Gene Ontology (GO) - Molecular Function for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with WASF3: view
genes like me logo Genes that share phenotypes with WASF3: view

Animal Models for WASF3 Gene

MGI Knock Outs for WASF3:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WASF3 Gene

Localization for WASF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASF3 Gene

Cytoplasm, cytoskeleton.

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 WASF3 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
extracellular 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium IEA --
GO:0070062 extracellular exosome HDA 23533145
GO:0098794 postsynapse IEA --
genes like me logo Genes that share ontologies with WASF3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WASF3 Gene

Pathways & Interactions for WASF3 Gene

genes like me logo Genes that share pathways with WASF3: view

Pathways by source for WASF3 Gene

SIGNOR curated interactions for WASF3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008360 regulation of cell shape IMP 21834987
GO:0014003 oligodendrocyte development IEA --
GO:0030032 lamellipodium assembly IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with WASF3: view

Drugs & Compounds for WASF3 Gene

No Compound Related Data Available

Transcripts for WASF3 Gene

mRNA/cDNA for WASF3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASF3 Gene

No ASD Table

Relevant External Links for WASF3 Gene

GeneLoc Exon Structure for
WASF3

Expression for WASF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WASF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WASF3 Gene

This gene is overexpressed in Brain (27.8), Frontal cortex (18.6), and Hair follicle (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WASF3 Gene



Protein tissue co-expression partners for WASF3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for WASF3

SOURCE GeneReport for Unigene cluster for WASF3 Gene:

Hs.618732

mRNA Expression by UniProt/SwissProt for WASF3 Gene:

Q9UPY6-WASF3_HUMAN
Tissue specificity: Expressed in ovary and brain.

Evidence on tissue expression from TISSUES for WASF3 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with WASF3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASF3 Gene

Orthologs for WASF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WASF3 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WASF3 31 30
  • 89.97 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WASF3 31
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WASF3 31 30
  • 86.09 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wasf3 17 31 30
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia WASF3 31
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wasf3 30
  • 79.84 (n)
chicken
(Gallus gallus)
Aves WASF3 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WASF3 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wasf3 30
  • 72.19 (n)
zebrafish
(Danio rerio)
Actinopterygii wasf3 31 30
  • 65.52 (n)
OneToMany
WASF3 (1 of 2) 31
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SCAR 31 32
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wve-1 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2335 31
  • 42 (a)
OneToMany
Species where no ortholog for WASF3 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)
  • 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)
  • 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 WASF3 Gene

ENSEMBL:
Gene Tree for WASF3 (if available)
TreeFam:
Gene Tree for WASF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for WASF3: view image

Paralogs for WASF3 Gene

Paralogs for WASF3 Gene

(2) SIMAP similar genes for WASF3 Gene using alignment to 3 proteins:

  • WASF3_HUMAN
  • Q5T8P4_HUMAN
  • Q86VQ2_HUMAN
genes like me logo Genes that share paralogs with WASF3: view

Variants for WASF3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for WASF3 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
710362 Benign: not provided 26,685,839(+) C/T SYNONYMOUS_VARIANT
715458 Likely Benign: not provided 26,682,765(+) C/G MISSENSE_VARIANT
715586 Benign: not provided 26,665,018(+) T/C INTRON_VARIANT
720489 Benign: not provided 26,682,932(+) A/G MISSENSE_VARIANT
756756 Likely Benign: not provided 26,681,249(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for WASF3 Gene

Structural Variations from Database of Genomic Variants (DGV) for WASF3 Gene

Variant ID Type Subtype PubMed ID
esv2759928 CNV gain 17122850
esv3631609 CNV loss 21293372
esv3892322 CNV gain 25118596
nsv1143586 CNV deletion 24896259
nsv826597 CNV gain 20364138
nsv969 CNV insertion 18451855
nsv974070 CNV duplication 23825009

Variation tolerance for WASF3 Gene

Residual Variation Intolerance Score: 50.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WASF3 Gene

Human Gene Mutation Database (HGMD)
WASF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASF3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASF3 Gene

Disorders for WASF3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for WASF3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
ganglioneuroblastoma
barbiturate abuse
trichomoniasis
  • trichomonas infection
cataract 25
  • ctrct25
- elite association - COSMIC cancer census association via MalaCards
Search WASF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WASF3

genes like me logo Genes that share disorders with WASF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASF3 Gene

Publications for WASF3 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 23 54
  2. Genomic organization and expression profile of the human and mouse WAVE gene family. (PMID: 12856283) Sossey-Alaoui K … Cowell JK (Mammalian genome : official journal of the International Mammalian Genome Society 2003) 3 4 23 54
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 54
  4. WAVE3 is associated with invasiveness in prostate cancer cells. (PMID: 19395286) Fernando HS … Jiang WG (Urologic oncology 2010) 3 23 54
  5. c-Abl-mediated phosphorylation of WAVE3 is required for lamellipodia formation and cell migration. (PMID: 17623672) Sossey-Alaoui K … Cowell JK (The Journal of biological chemistry 2007) 3 4 54

Products for WASF3 Gene

Sources for WASF3 Gene