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Gene Gene information from NCBI Gene database.
Entrez ID 10451
Gene name Vav guanine nucleotide exchange factor 3
Gene symbol VAV3
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p13.3
Summary This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product act
miRNA miRNA information provided by mirtarbase database.
3003 Show/Hide all (3003)
miRTarBase ID miRNA Experiments Reference
MIRT016326 hsa-miR-193b-3p Microarray 20304954
MIRT021094 hsa-miR-186-5p Sequencing 20371350
MIRT027493 hsa-miR-98-5p Microarray 19088304
MIRT045501 hsa-miR-149-5p CLASH 23622248
MIRT456110 hsa-miR-28-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46 Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001772 Component Immunological synapse IDA 15708849
GO:0002768 Process Immune response-regulating cell surface receptor signaling pathway IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 8990121
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605541 12659 ENSG00000134215
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKW4
Protein name Guanine nucleotide exchange factor VAV3 (VAV-3)
Protein function Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for
PDB 2D86
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 672 → 746 SH2 domain Domain
PF00130 C1_1 514 → 566 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00169 PH 401 → 502 PH domain Domain
PF00307 CH 1 → 121 Calponin homology (CH) domain Domain
PF00621 RhoGEF 196 → 369 RhoGEF domain Domain
PF07653 SH3_2 793 → 846 Variant SH3 domain Domain
PF07653 SH3_2 596 → 658 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed; both are expressed at very low levels in skeletal muscle. In keratinocytes, isoform 1 is less abundant than isoform 3. Isoform 3 is detected at very low levels, if any, in adrenal gland, bo
Sequence
Sequence length 847
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Rap1 signaling pathway GPVI-mediated activation cascade
cAMP signaling pathway NRAGE signals death through JNK
Chemokine signaling pathway Rho GTPase cycle
Focal adhesion Regulation of actin dynamics for phagocytic cup formation
Natural killer cell mediated cytotoxicity DAP12 signaling
T cell receptor signaling pathway FCERI mediated MAPK activation
B cell receptor signaling pathway FCERI mediated Ca+2 mobilization
Fc epsilon RI signaling pathway EPH-ephrin mediated repulsion of cells
Fc gamma R-mediated phagocytosis G alpha (12/13) signalling events
Leukocyte transendothelial migration VEGFA-VEGFR2 Pathway
Regulation of actin cytoskeleton VEGFR2 mediated vascular permeability
Yersinia infection FCGR3A-mediated phagocytosis
Proteoglycans in cancer  
Lipid and atherosclerosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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.
Show/Hide Unknown Diseases (18)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 24388013
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUDITORY SYSTEM DISEASE — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 25429627, 32581359
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA — GWAS catalog 28703219, 33527407
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (85)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27453460
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 25993291 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31570505
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 24388013
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 31570505
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 22493691
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases GWASCAT_DG 30595370
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune thyroiditis Autoimmune Thyroiditis GWASCAT_DG 25429627
★★★★★
★☆☆☆☆
Found in Text Mining only