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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]
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 Integrin Pathway and Signaling by GPCR. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,TAS | -- |
GO:0005096 | GTPase activator activity | TAS | 10523675 |
GO:0005154 | epidermal growth factor receptor binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 12577067 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IDA | 15708849 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | p75 NTR receptor-mediated signalling |
.36
|
|
3 | TCR Signaling (Qiagen) |
PKC-Theta Pathway
.68
TCR Signaling
.68
|
ITK and TCR Signaling
.54
Fc-EpsilonRI Pathway
.49
|
4 | Signaling by GPCR | ||
5 | Focal Adhesion |
.61
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
DG(16:0/24:0/0:0) |
|
|
||||
Diglycerides Group A |
|
|
||||
Diglycerides Group B |
|
257891-89-7 |
|
|||
Diglycerides Group C |
|
91125-76-7, 29541-66-0, 51621-26-2 |
|
|||
Diglycerides Group D |
|
|
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VAV3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | VAV3 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | VAV3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VAV3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Vav3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Vav3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | VAV3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | VAV3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | vav3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | VAV3 (1 of 3) 31 |
|
OneToMany | |
vav3b 30 31 |
|
OneToMany | |||
vav3a 31 |
|
OneToMany | |||
wufk86g11 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | vav 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | vav-1 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC24 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1542 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12072686 | Benign: not provided | 107,874,927(-) |
A/G NM_006113.5(VAV3):c.295T>C (p.Leu99=) |
SYNONYMOUS | |
rs138170759 | Likely Benign: not provided | 107,964,797(-) |
A/G NM_006113.5(VAV3):c.73T>C (p.Trp25Arg) |
MISSENSE | |
rs138334746 | Likely Benign: not provided | 107,609,935(-) |
G/T NM_006113.5(VAV3):c.2011C>A (p.Pro671Thr) |
MISSENSE | |
rs142245622 | Likely Benign: not provided | 107,574,093(-) |
G/A NM_006113.5(VAV3):c.2456C>T (p.Thr819Ile) |
MISSENSE | |
rs142499589 | Likely Benign: not provided. Benign: not provided | 107,964,861(-) |
C/GC/T NM_006113.5(VAV3):c.9G>C (p.Pro3=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
anterior foramen magnum meningioma |
|
|
glaucoma, normal tension |
|
|
foramen magnum meningioma |
|
|
osteopetrosis |
|
|
prostatitis |
|
|