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 acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free ... See more...

Aliases for VAV3 Gene

Aliases for VAV3 Gene

  • Vav Guanine Nucleotide Exchange Factor 3 2 3 5
  • Vav 3 Guanine Nucleotide Exchange Factor 2 3
  • Guanine Nucleotide Exchange Factor VAV3 3 4
  • Vav 3 Oncogene 2 3
  • VAV-3 3 4

External Ids for VAV3 Gene

Previous GeneCards Identifiers for VAV3 Gene

  • GC01M108614
  • GC01M107096
  • GC01M107270
  • GC01M107468
  • GC01M107825
  • GC01M107915
  • GC01M108113
  • GC01M106059

Summaries for VAV3 Gene

Entrez Gene Summary for VAV3 Gene

  • 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 acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for VAV3 Gene

VAV3 (Vav Guanine Nucleotide Exchange Factor 3) is a Protein Coding gene. Diseases associated with VAV3 include Anterior Foramen Magnum Meningioma and Glaucoma, Normal Tension. Among its related pathways are Signaling by GPCR and Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is VAV1.

UniProtKB/Swiss-Prot Summary for VAV3 Gene

  • 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 EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)-mediated adhesion. Does not affect integrin beta-1 (ITGB1)-mediated adhesion (By similarity).

Gene Wiki entry for VAV3 Gene

Additional gene information for VAV3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VAV3 Gene

Genomics for VAV3 Gene

GeneHancer (GH) Regulatory Elements for VAV3 Gene

Promoters and enhancers for VAV3 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
GH01J107961 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.3 1311 5.2 ZNF217 NRF1 ZFX CLOCK ZBTB26 CHD1 CTBP1 MXI1 ZNF341 POLR2A VAV3 VAV3-AS1 HG984097
GH01J107681 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 500.1 +278.4 278435 9.8 ZNF217 ZSCAN5C TCF12 POLR2G USF1 NCOR1 ZNF10 POLR2A CLOCK TCF7 lnc-SLC25A24-1 VAV3 HENMT1 lnc-NTNG1-4
GH01J107784 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 38.3 +178.9 178864 3.3 CTCF RAD21 CREB1 NFIC GATA3 SMC3 SPI1 ZNF513 RCOR1 SMARCA4 VAV3 VAV3-AS1 piR-55194-018 piR-33056-001
GH01J107824 Enhancer 1 Ensembl ENCODE dbSUPER 38.5 +134.4 134379 12 ZBTB40 ATF2 ZNF384 NR3C1 SPI1 NFE2 ELF1 FOXA1 TBX21 EZH2 VAV3 VAV3-AS1 piR-33056-001 piR-55194-018
GH01J107802 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 37.2 +160.2 160247 4.5 SPI1 ETV6 RUNX3 VAV3 VAV3-AS1 piR-33056-001 piR-55194-018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VAV3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VAV3

Top Transcription factor binding sites by QIAGEN in the VAV3 gene promoter:
  • AML1a
  • FOXL1
  • NF-1
  • STAT3

Genomic Locations for VAV3 Gene

Genomic Locations for VAV3 Gene
chr1:107,571,160-107,965,180
(GRCh38/hg38)
Size:
394,021 bases
Orientation:
Minus strand
chr1:108,113,782-108,507,766
(GRCh37/hg19)
Size:
393,985 bases
Orientation:
Minus strand

Genomic View for VAV3 Gene

Genes around VAV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VAV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VAV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAV3 Gene

Proteins for VAV3 Gene

  • Protein details for VAV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKW4-VAV3_HUMAN
    Recommended name:
    Guanine nucleotide exchange factor VAV3
    Protein Accession:
    Q9UKW4
    Secondary Accessions:
    • B1AMM0
    • B1APV5
    • B4E232
    • B7ZLR1
    • E9PQ97
    • O60498
    • O95230
    • Q9Y5X8

    Protein attributes for VAV3 Gene

    Size:
    847 amino acids
    Molecular mass:
    97776 Da
    Quaternary structure:
    • Interacts with the PH domain of APS. Interacts (via SH2 domains) with the phosphorylated form of EPHA2. Interacts with ROS1; constitutive interaction that mediates VAV3 phosphorylation.
    Miscellaneous:
    • [Isoform 3]: May be produced by alternative promoter usage.
    SequenceCaution:
    • Sequence=AAD03799.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VAV3 Gene

    Alternative splice isoforms for VAV3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VAV3 Gene

Post-translational modifications for VAV3 Gene

  • Phosphorylated. Phosphorylation can be mediated by ROS1. In osteoclasts, undergoes tyrosine phosphorylation in response to CSF1 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for VAV3 Gene

Domains & Families for VAV3 Gene

Protein Domains for VAV3 Gene

Blocks:
  • DH domain
  • Pleckstrin-like
  • SH3 domain signature
  • Variant SH3
  • SH2 domain signature
  • Calponin-like actin-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VAV3 Gene

GenScript: Design optimal peptide antigens:
  • VAV3 protein (B7ZLR1_HUMAN)
  • Guanine nucleotide exchange factor VAV3 (VAV3_HUMAN)
genes like me logo Genes that share domains with VAV3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for VAV3 Gene

Function for VAV3 Gene

Molecular function for VAV3 Gene

UniProtKB/Swiss-Prot 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 EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a crucial event for osteoclast proper cytoskeleton organization and function. This signaling pathway involves RAC1, but not RHO, activation. Necessary for proper wound healing. In the course of wound healing, required for the phagocytotic cup formation preceding macrophage phagocytosis of apoptotic neutrophils. Responsible for integrin beta-2 (ITGB2)-mediated macrophage adhesion and, to a lesser extent, contributes to beta-3 (ITGB3)-mediated adhesion. Does not affect integrin beta-1 (ITGB1)-mediated adhesion (By similarity).
UniProtKB/Swiss-Prot Induction:
Down-regulated by EGF and TGF-beta.

Phenotypes From GWAS Catalog for VAV3 Gene

Gene Ontology (GO) - Molecular Function for VAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 10523675
GO:0005085 guanyl-nucleotide exchange factor activity TAS,IEA --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity TAS 10523675
GO:0005154 epidermal growth factor receptor binding IEA --
genes like me logo Genes that share ontologies with VAV3: view
genes like me logo Genes that share phenotypes with VAV3: view

Animal Models for VAV3 Gene

MGI Knock Outs for VAV3:

miRNA for VAV3 Gene

miRTarBase miRNAs that target VAV3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VAV3 Gene

Localization for VAV3 Gene

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 VAV3 gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for VAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with VAV3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for VAV3 Gene

Pathways & Interactions for VAV3 Gene

genes like me logo Genes that share pathways with VAV3: view

Pathways by source for VAV3 Gene

1 GeneGo (Thomson Reuters) pathway for VAV3 Gene
  • Immune response Role of DAP12 receptors in NK cells
16 Qiagen pathways for VAV3 Gene
  • EGF Pathway
  • EphB-EphrinB Signaling
  • Fc-EpsilonRI Pathway
  • Fc-GammaR Pathway
  • Fc-GammaR-Mediated Phagocytosis in Macrophages
1 Cell Signaling Technology pathway for VAV3 Gene

SIGNOR curated interactions for VAV3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for VAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006906 vesicle fusion IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 17875758
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with VAV3: view

Drugs & Compounds for VAV3 Gene

(3) Drugs for VAV3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for VAV3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with VAV3: view

Transcripts for VAV3 Gene

mRNA/cDNA for VAV3 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for VAV3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: - - -
SP2:

ExUns: 27 ^ 28 ^ 29 ^ 30
SP1:
SP2:

Relevant External Links for VAV3 Gene

GeneLoc Exon Structure for
VAV3

Expression for VAV3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VAV3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VAV3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x6.3), Esophagus - Mucosa (x5.6), Skin - Sun Exposed (Lower leg) (x5.5), and Kidney - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for VAV3 Gene

This gene is overexpressed in Monocytes (15.4), Peripheral blood mononuclear cells (15.3), Plasma (14.8), and Lymph node (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VAV3 Gene



Protein tissue co-expression partners for VAV3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VAV3

SOURCE GeneReport for Unigene cluster for VAV3 Gene:

Hs.267659

mRNA Expression by UniProt/SwissProt for VAV3 Gene:

Q9UKW4-VAV3_HUMAN
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, bone marrow, spleen, fetal brain and spinal chord; in these tissues, isoform 1 is readily detectable.

Evidence on tissue expression from TISSUES for VAV3 Gene

  • Skin(4.3)
  • Nervous system(2.8)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with VAV3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for VAV3 Gene

Orthologs for VAV3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for VAV3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VAV3 31
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAV3 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VAV3 31 30
  • 93.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia VAV3 31 30
  • 91.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Vav3 17 31 30
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Vav3 30
  • 89.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves VAV3 31 30
  • 81.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VAV3 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vav3 30
  • 71.97 (n)
zebrafish
(Danio rerio)
Actinopterygii VAV3 (1 of 3) 31
  • 76 (a)
OneToMany
vav3b 31 30
  • 68.21 (n)
OneToMany
vav3a 31
  • 67 (a)
OneToMany
wufk86g11 30
fruit fly
(Drosophila melanogaster)
Insecta vav 31 32
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vav-1 31 30
  • 46.46 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC24 31
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1542 31
  • 35 (a)
OneToMany
Species where no ortholog for VAV3 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)
  • 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 VAV3 Gene

ENSEMBL:
Gene Tree for VAV3 (if available)
TreeFam:
Gene Tree for VAV3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VAV3: view image

Paralogs for VAV3 Gene

(9) SIMAP similar genes for VAV3 Gene using alignment to 6 proteins:

  • VAV3_HUMAN
  • E9PMJ5_HUMAN
  • F5GXH7_HUMAN
  • H0YCG7_HUMAN
  • H0YDG2_HUMAN
  • H9KV67_HUMAN
genes like me logo Genes that share paralogs with VAV3: view

Variants for VAV3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VAV3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709763 Likely Benign: not provided 107,964,797(-) A/G MISSENSE_VARIANT
713322 Benign: not provided 107,874,927(-) A/G SYNONYMOUS_VARIANT
717806 Benign: not provided 107,574,039(-) C/T INTRON_VARIANT
721213 Benign: not provided 107,766,560(-) G/A INTRON_VARIANT
723111 Benign: not provided 107,964,861(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for VAV3 Gene

Structural Variations from Database of Genomic Variants (DGV) for VAV3 Gene

Variant ID Type Subtype PubMed ID
dgv248n100 CNV gain 25217958
dgv469n54 CNV gain 21841781
dgv470n54 CNV loss 21841781
dgv471n54 CNV loss 21841781
dgv472n54 CNV loss 21841781
dgv473n54 CNV loss 21841781
dgv474n54 CNV loss 21841781
esv24324 CNV loss 19812545
esv24698 CNV loss 19812545
esv25310 CNV gain 19812545
esv2657612 CNV deletion 23128226
esv2667617 CNV deletion 23128226
esv2669654 CNV deletion 23128226
esv2675258 CNV deletion 23128226
esv2715862 CNV deletion 23290073
esv2715873 CNV deletion 23290073
esv2715884 CNV deletion 23290073
esv2764218 CNV loss 21179565
esv3303346 CNV mobile element insertion 20981092
esv3310095 CNV mobile element insertion 20981092
esv3330588 CNV insertion 20981092
esv3377289 CNV insertion 20981092
esv33860 CNV gain 17666407
esv3387276 CNV insertion 20981092
esv3389211 CNV duplication 20981092
esv3567126 CNV deletion 23714750
esv3567159 CNV deletion 23714750
esv3578059 CNV loss 25503493
esv3587112 CNV loss 21293372
esv3587113 CNV loss 21293372
esv3587115 CNV loss 21293372
esv3587116 CNV loss 21293372
esv3587117 CNV loss 21293372
esv3587118 CNV loss 21293372
nsv1011093 CNV gain 25217958
nsv1137791 CNV deletion 24896259
nsv463073 CNV loss 19166990
nsv463084 CNV loss 19166990
nsv523448 CNV loss 19592680
nsv524680 CNV gain 19592680
nsv547337 CNV loss 21841781
nsv547354 CNV loss 21841781
nsv823831 CNV loss 20364138
nsv830993 CNV gain 17160897
nsv831004 CNV gain 17160897
nsv831015 CNV gain 17160897
nsv950534 CNV duplication 24416366
nsv997312 CNV loss 25217958

Variation tolerance for VAV3 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.00; 74.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VAV3 Gene

Human Gene Mutation Database (HGMD)
VAV3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VAV3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAV3 Gene

Disorders for VAV3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for VAV3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anterior foramen magnum meningioma
  • meningioma of the anterior foramen magnum
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
prostatitis
osteopetrosis
  • albers-schonberg osteopetrosis
foramen magnum meningioma
  • meningioma of the foramen magnum
- elite association - COSMIC cancer census association via MalaCards
Search VAV3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VAV3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with VAV3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VAV3 Gene

Publications for VAV3 Gene

  1. Adaptor protein APS binds the NH2-terminal autoinhibitory domain of guanine nucleotide exchange factor Vav3 and augments its activity. (PMID: 12400014) Yabana N … Shibuya M (Oncogene 2002) 3 4 23 54
  2. Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins. (PMID: 10523675) Movilla N … Bustelo XR (Molecular and cellular biology 1999) 3 4 23 54
  3. Novel associations for hypothyroidism include known autoimmune risk loci. (PMID: 22493691) Eriksson N … Do CB (PloS one 2012) 3 41 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for VAV3 Gene