Gene Gene information from NCBI Gene database.
Entrez ID 10810
Gene name WASP family member 3
Gene symbol WASF3
Synonyms (NCBI Gene)
Brush-1SCAR3WAVE3
Chromosome 13
Chromosome location 13q12.13
Summary 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
miRNA miRNA information provided by mirtarbase database.
641
miRTarBase ID miRNA Experiments Reference
MIRT004296 hsa-miR-200b-3p Luciferase reporter assayqRT-PCR 19801681
MIRT004296 hsa-miR-200b-3p Luciferase reporter assayqRT-PCR 19801681
MIRT004296 hsa-miR-200b-3p Luciferase reporter assayqRT-PCR 19801681
MIRT004524 hsa-miR-200a-3p Luciferase reporter assay 19801681
MIRT004296 hsa-miR-200b-3p Luciferase reporter assay 19801681
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIF1A Activation 22581642
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 24658140, 31980649, 32296183, 35512704
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007010 Process Cytoskeleton organization IMP 21834987
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605068 12734 ENSG00000132970
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPY6
Protein name Actin-binding protein WASF3 (Protein WAVE-3) (Verprolin homology domain-containing protein 3) (Wiskott-Aldrich syndrome protein family member 3) (WASP family protein member 3)
Protein 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 co
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02205 WH2 437 464 WH2 motif Family
Tissue specificity TISSUE SPECIFICITY: Expressed in ovary and brain.
Sequence
MPLVKRNIEPRHLCRGALPEGITSELECVTNSTLAAIIRQLSSLSKHAEDIFGELFNEAN
NFYIRANSLQDRIDRLAVKVTQLDSTVEEVSLQDINMKKAFKSSTVQDQQVVSKNSIPNP
VADIYNQSDKPPPLNILTPYRDDKKDGLKFYTDPSYFFDLWKEKMLQDTEDKRKEKRRQK
EQKRIDGTTREVKKVRKARNRRQEWNMMAYDKELRPDNRLSQSVYHGASSEGSLSPDTRS
HASDVTDYSYPATPNHSLHPQPVTPSYAAGDVPPHGPASQAAEHEYRPPSASARHMALNR
PQQPPPPPPPQAPEGSQASAPMAPADYGMLPAQIIEYYNPSGPPPPPPPPVIPSAQTAFV
SPLQMPMQPPFPASASSTHAAPPHPPSTGLLVTAPPPPGPPPPPPGPPGPGSSLSSSPMH
GPPVAEAKRQEPAQPPISDARSDLLAAIRMGIQLKKVQEQREQEAKREPVGNDVATILSR
RIAVEYSDSDDDSEFDENDWSD
Sequence length 502
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Adherens junction
Fc gamma R-mediated phagocytosis
Pathogenic Escherichia coli infection
Salmonella infection
Choline metabolism in cancer
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs138080902 RCV005906208
Clear cell carcinoma of kidney Benign rs138080902 RCV005906209
Nonpapillary renal cell carcinoma Benign rs138080902 RCV005906207
Uterine corpus endometrial carcinoma Benign rs138080902 RCV005906210
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37322027
Breast Neoplasms Associate 21105030, 21544801, 22909346, 22952619, 23318438, 36949468, 37176055
Carcinogenesis Associate 19567454, 27642088
Hypoxia Stimulate 22581642
Hypoxia Brain Stimulate 22581642
Leiomyoma Associate 19567454
Lymphatic Metastasis Stimulate 29845225
Neoplasm Metastasis Associate 19801681, 21105030, 22315230, 22581642, 22952619, 23677069, 25329315, 26676744, 28233357, 36949468, 37176055
Neoplasm Metastasis Inhibit 22289355
Neoplasm Metastasis Stimulate 23318438