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VAV2 vav guanine nucleotide exchange factor 2 [ Homo sapiens (human) ]

Gene ID: 7410, updated on 1-Jun-2020

Summary

Official Symbol
VAV2provided by HGNC
Official Full Name
vav guanine nucleotide exchange factor 2provided by HGNC
Primary source
HGNC:HGNC:12658
See related
Ensembl:ENSG00000160293 MIM:600428
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VAV-2
Summary
VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in adrenal (RPKM 10.2), small intestine (RPKM 8.2) and 25 other tissues See more
Orthologs

Genomic context

See VAV2 in Genome Data Viewer
Location:
9q34.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133761894..133992374, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136627016..136857496, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376308 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene sarcosine dehydrogenase Neighboring gene uncharacterized LOC100130548 Neighboring gene BRD3 opposite strand Neighboring gene bromodomain containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
NHGRI GWA Catalog
Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 alone or CD4/gp160 cross-linking induces tyrosine phosphorylation of intracellular substrates p59fyn, zap 70, and p95vav and also leads to ras activation PubMed
Nef nef The C-terminal SH3 domain of Vav binds to the PXXP motif in HIV-1 Nef and this interaction activates Vav and its downstream effectors, leading to morphological changes, cytoskeletal rearrangements, and the activation of the JNK/SAPK cascade PubMed
nef The interaction of HIV-1 Nef with Vav is detected by pull-down assays; mutations in the Nef PXXP motif maintain some residual binding capacity to Vav PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
epidermal growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
positive regulation of phosphatidylinositol 3-kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of GTPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of cell size IGI
Inferred from Genetic Interaction
more info
PubMed 
NOT regulation of cell size IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
guanine nucleotide exchange factor VAV2
Names
vav 2 oncogene

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029725.1 RefSeqGene

    Range
    5001..235431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134398.2NP_001127870.1  guanine nucleotide exchange factor VAV2 isoform 1

    See identical proteins and their annotated locations for NP_001127870.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC033187, BC043615, BC132965, S76992
    Consensus CDS
    CCDS48053.1
    UniProtKB/Swiss-Prot
    P52735
    Related
    ENSP00000360916.3, ENST00000371850.8
    Conserved Domains (8) summary
    cd10406
    Location:667769
    SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
    cd11977
    Location:819876
    SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
    cd11980
    Location:590649
    SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
    cd00029
    Location:524571
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01223
    Location:389516
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:406512
    PH; PH domain
    pfam00621
    Location:202375
    RhoGEF; RhoGEF domain
    pfam11971
    Location:18103
    CAMSAP_CH; CAMSAP CH domain
  2. NM_003371.4NP_003362.2  guanine nucleotide exchange factor VAV2 isoform 2

    See identical proteins and their annotated locations for NP_003362.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three single exons in the CDS, as compared to variant 1. The reading frame is not changed and the resulting isoform (2) lacks three internal segments, as compared to isoform 1.
    Source sequence(s)
    BC043615, BC132965
    Consensus CDS
    CCDS6979.1
    UniProtKB/Swiss-Prot
    P52735
    Related
    ENSP00000385362.3, ENST00000406606.7
    Conserved Domains (8) summary
    cd10406
    Location:657759
    SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
    cd11977
    Location:780837
    SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
    cd11980
    Location:580639
    SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
    cd00029
    Location:514561
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01223
    Location:384506
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:401502
    PH; PH domain
    pfam00621
    Location:197370
    RhoGEF; RhoGEF domain
    pfam11971
    Location:18103
    CAMSAP_CH; CAMSAP CH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    133761894..133992374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272213.1XP_005272270.1  guanine nucleotide exchange factor VAV2 isoform X4

    See identical proteins and their annotated locations for XP_005272270.1

    UniProtKB/Swiss-Prot
    P52735
    Related
    ENSP00000360917.1, ENST00000371851.1
    Conserved Domains (8) summary
    cd10406
    Location:657759
    SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
    cd11977
    Location:809866
    SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
    cd11980
    Location:580639
    SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
    cd00029
    Location:514561
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd01223
    Location:384506
    PH_Vav; Vav pleckstrin homology (PH) domain
    pfam00169
    Location:401502
    PH; PH domain
    pfam00621
    Location:197370
    RhoGEF; RhoGEF domain
    pfam11971
    Location:18103
    CAMSAP_CH; CAMSAP CH domain
  2. XM_017015109.1XP_016870598.1  guanine nucleotide exchange factor VAV2 isoform X2

  3. XM_017015112.1XP_016870601.1  guanine nucleotide exchange factor VAV2 isoform X6

  4. XM_017015110.1XP_016870599.1  guanine nucleotide exchange factor VAV2 isoform X3

  5. XM_017015111.1XP_016870600.1  guanine nucleotide exchange factor VAV2 isoform X5

  6. XM_017015108.1XP_016870597.1  guanine nucleotide exchange factor VAV2 isoform X1

  7. XM_017015113.1XP_016870602.1  guanine nucleotide exchange factor VAV2 isoform X7

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