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

    Gene ID: 7410, updated on 8-Jul-2021

    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
    NEW
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    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
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133761894..133992374, complement)
    105.20201022 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 SARDH intron CAGE-defined T cell enhancer Neighboring gene sarcosine dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 10163 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

    Associated conditions

    Description Tests
    Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
    GeneReviews: Not available
    Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.
    GeneReviews: Not available
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available

    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
    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 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 
    Component Evidence Code Pubs
    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
      P52735
      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_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: Homo sapiens Updated Annotation Release 109.20210514

    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 (7) 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
      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
    2. XM_017015109.1XP_016870598.1  guanine nucleotide exchange factor VAV2 isoform X2

      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
    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

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

      Conserved Domains (7) summary
      cd10406
      Location:685787
      SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins
      cd11977
      Location:808865
      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
    6. XM_017015108.1XP_016870597.1  guanine nucleotide exchange factor VAV2 isoform X1

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

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