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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 28103522, 28661955, 29171012
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28103522, 28661955, 29171012
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27656769
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 31750692
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28794159
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 27322577
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 17525277
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 17525277, 18509249, 21105030, 21544801, 22581642, 26804171, 29262622, 31542393, 8137235, 9616288
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21105030, 21544801, 22909346, 22952619, 23318438, 36949468, 37176055 Associate
★☆☆☆☆
Found in Text Mining only
Bulimia Nervosa Bulimia BEFREE 10473319
★☆☆☆☆
Found in Text Mining only