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

    Gene ID: 7410, updated on 18-Sep-2024

    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; AllianceGenome:HGNC:12658
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VAV2 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133761894..133992324, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145977670..146207128, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136627016..136857446, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene DBH antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136550530-136551030 Neighboring gene dopamine beta-hydroxylase Neighboring gene sarcosine dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136576505-136577208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136581429-136582130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136580725-136581428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136592563-136593073 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136608197-136608347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29248 Neighboring gene Sharpr-MPRA regulatory region 10163 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136640028-136640254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136644953-136645920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136652072-136652624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29250 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136666341-136666861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136667983-136668505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136668506-136669028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136676904-136677659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136677660-136678414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136679171-136679924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136689618-136690614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136690615-136691612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136699176-136699998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136704646-136705596 Neighboring gene Sharpr-MPRA regulatory region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136715018-136715999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136714035-136715017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136717779-136718308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719038-136719538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719539-136720039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136722620-136723471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136726902-136727725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136727726-136728548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136732543-136733366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737072-136737572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737573-136738073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:136739070-136740269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741055-136741790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741791-136742524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136747665-136748398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136749133-136749866 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:136753100-136754299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136779963-136780912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136780913-136781861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136784581-136785360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136795832-136796480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136809459-136810312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136813513-136814022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136814023-136814532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136815043-136815553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822320-136822896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822897-136823473 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136823474-136824051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136824052-136824628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825783-136826360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825207-136825782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136835167-136836051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136836052-136836935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136843801-136844318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136844835-136845350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136848313-136849057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136853577-136854304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136854305-136855032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136855033-136855760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136855761-136856488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136856489-136857216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136857945-136858672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20473 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 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

    EBI GWAS Catalog

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables epidermal growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to xenobiotic stimulus TAS
    Traceable Author Statement
    more info
     
    involved_in immune response-regulating cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet activation TAS
    Traceable Author Statement
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of GTPase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in small GTPase-mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      A2RUM4, A8MQ12, B6ZDF5, P52735, Q5SYV3, Q5SYV4, Q5SYV5, Q6N012, Q6PIJ9, Q6Q317
      Related
      ENSP00000360916.3, ENST00000371850.8
      Conserved Domains (7) 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
      smart00325
      Location:202375
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:389516
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21263
      Location:2120
      CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins
      cd20868
      Location:519576
      C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
    2. NM_001411028.1NP_001397957.1  guanine nucleotide exchange factor VAV2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL357934, AL445931, AL590710
      Consensus CDS
      CCDS94524.1
      Related
      ENSP00000360917.1, ENST00000371851.1
    3. 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 (7) 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
      smart00325
      Location:197370
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:384506
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21263
      Location:2120
      CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins
      cd20868
      Location:509566
      C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133761894..133992324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015109.2XP_016870598.1  guanine nucleotide exchange factor VAV2 isoform X3

      Conserved Domains (7) summary
      cd10406
      Location:680782
      SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
      cd11977
      Location:832889
      SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
      cd11980
      Location:603662
      SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
      smart00325
      Location:197370
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:384529
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21263
      Location:2120
      CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins
      cd20868
      Location:532589
      C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
    2. XM_017015110.2XP_016870599.1  guanine nucleotide exchange factor VAV2 isoform X4

      Conserved Domains (7) summary
      cd10406
      Location:662764
      SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
      cd11977
      Location:814871
      SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
      cd11980
      Location:585644
      SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
      smart00325
      Location:202375
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:389511
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21263
      Location:2120
      CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins
      cd20868
      Location:514571
      C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
    3. XM_017015108.2XP_016870597.1  guanine nucleotide exchange factor VAV2 isoform X2

      Conserved Domains (7) summary
      cd10406
      Location:685787
      SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
      cd11977
      Location:837894
      SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein
      cd11980
      Location:608667
      SH3_VAV2_1; First Src homology 3 domain of VAV2 protein
      smart00325
      Location:202375
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd01223
      Location:389534
      PH_Vav; Vav pleckstrin homology (PH) domain
      cd21263
      Location:2120
      CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins
      cd20868
      Location:537594
      C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
    4. XM_047423845.1XP_047279801.1  guanine nucleotide exchange factor VAV2 isoform X1

    5. XM_017015113.2XP_016870602.1  guanine nucleotide exchange factor VAV2 isoform X5

    6. XM_047423847.1XP_047279803.1  guanine nucleotide exchange factor VAV2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145977670..146207128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363748.1XP_054219723.1  guanine nucleotide exchange factor VAV2 isoform X3

    2. XM_054363751.1XP_054219726.1  guanine nucleotide exchange factor VAV2 isoform X8

    3. XM_054363749.1XP_054219724.1  guanine nucleotide exchange factor VAV2 isoform X4

    4. XM_054363750.1XP_054219725.1  guanine nucleotide exchange factor VAV2 isoform X7

    5. XM_054363747.1XP_054219722.1  guanine nucleotide exchange factor VAV2 isoform X2

    6. XM_054363753.1XP_054219728.1  guanine nucleotide exchange factor VAV2 isoform X6

    7. XM_054363752.1XP_054219727.1  guanine nucleotide exchange factor VAV2 isoform X5