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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VAV2 orchestrates the interplay between regenerative proliferation and ribogenesis in both keratinocytes and oral squamous cell carcinoma.
Title: VAV2 orchestrates the interplay between regenerative proliferation and ribogenesis in both keratinocytes and oral squamous cell carcinoma.
Vav2 promotes ductus arteriosus anatomic closure via the remodeling of smooth muscle cells by Rac1 activation.
Title: Vav2 promotes ductus arteriosus anatomic closure via the remodeling of smooth muscle cells by Rac1 activation.
AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway.
Title: AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway.
The tRNA-Cys-GCA Derived tsRNAs Suppress Tumor Progression of Gliomas via Regulating VAV2.
Title: The tRNA-Cys-GCA Derived tsRNAs Suppress Tumor Progression of Gliomas via Regulating VAV2.
Potentially functional genetic variants of VAV2 and PSMA4 in the immune-activation pathway and non-small cell lung cancer survival.
Title: Potentially functional genetic variants of VAV2 and PSMA4 in the immune-activation pathway and non-small cell lung cancer survival.
VAV2 is required for DNA repair and implicated in cancer radiotherapy resistance.
Title: VAV2 is required for DNA repair and implicated in cancer radiotherapy resistance.
SNHG3 silencing suppresses the malignant development of triple-negative breast cancer cells by regulating miRNA-326/integrin alpha5 axis and inactivating Vav2/Rac1 signaling pathway.
Title: SNHG3 silencing suppresses the malignant development of triple-negative breast cancer cells by regulating miRNA-326/integrin α5 axis and inactivating Vav2/Rac1 signaling pathway.
Biochemical and NMR characterization of the interactions of Vav2-SH2 domain with lipids and the EphA2 juxtamembrane region on membrane.
Title: Biochemical and NMR characterization of the interactions of Vav2-SH2 domain with lipids and the EphA2 juxtamembrane region on membrane.
VAV2 signaling promotes regenerative proliferation in both cutaneous and head and neck squamous cell carcinoma.
Title: VAV2 signaling promotes regenerative proliferation in both cutaneous and head and neck squamous cell carcinoma.
Both erb-b2 receptor tyrosine kinase 2 (ErbB2) and vav guanine nucleotide exchange factor 2 (VAV2 )are direct targets of miR-331-3p.
Title: MicroRNA-331-3p inhibits epithelial-mesenchymal transition by targeting ErbB2 and VAV2 through the Rac1/PAK1/β-catenin axis in non-small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31720 (e-PCR)
- UniSTS:24100

G60137 (e-PCR)
- UniSTS:137257

D9S10 (e-PCR)
- UniSTS:153135

G59448 (e-PCR)
- UniSTS:136756

D9S1347 (e-PCR)
- UniSTS:153151

D9S1350 (e-PCR)
- UniSTS:153154

D9S1351 (e-PCR)
- UniSTS:153155

D9S1336 (e-PCR)
- UniSTS:153159

D9S1358 (e-PCR)
- UniSTS:153162

D9S1361 (e-PCR)
- UniSTS:153165

D9S10 (e-PCR)
- UniSTS:153166

D9S1337 (e-PCR)
- UniSTS:153169

D9S1339 (e-PCR)
- UniSTS:153171

G59645 (e-PCR)
- UniSTS:136801

RH47757 (e-PCR)
- UniSTS:51593

G59976 (e-PCR)
- UniSTS:137112

GL4-1 (e-PCR)
- UniSTS:241050

D9S66 (e-PCR)
- UniSTS:147105

SHGC-85362 (e-PCR)
- UniSTS:104889

VAV2_8717 (e-PCR)
- UniSTS:468167

D9S66 (e-PCR)
- UniSTS:25561

G54584 (e-PCR)
- UniSTS:117721

G54588 (e-PCR)
- UniSTS:117725

SHGC-2757 (e-PCR)
- UniSTS:56289

RH65704 (e-PCR)
- UniSTS:73443

WI-16717 (e-PCR)
- UniSTS:43511

G54622 (e-PCR)
- UniSTS:117755

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

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Preferred Names: guanine nucleotide exchange factor VAV2

Names: vav 2 oncogene

NCBI Reference Sequences (RefSeq)

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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

NG_029725.1 RefSeqGene

Range

5001..235431

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001134398.2 → NP_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:667 → 769

SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins

cd11977
Location:819 → 876

SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein

cd11980
Location:590 → 649

SH3_VAV2_1; First Src homology 3 domain of VAV2 protein

smart00325
Location:202 → 375

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01223
Location:389 → 516

PH_Vav; Vav pleckstrin homology (PH) domain

cd21263
Location:2 → 120

CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins

cd20868
Location:519 → 576

C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
NM_001411028.1 → NP_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
NM_003371.4 → NP_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:657 → 759

SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins

cd11977
Location:780 → 837

SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein

cd11980
Location:580 → 639

SH3_VAV2_1; First Src homology 3 domain of VAV2 protein

smart00325
Location:197 → 370

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01223
Location:384 → 506

PH_Vav; Vav pleckstrin homology (PH) domain

cd21263
Location:2 → 120

CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins

cd20868
Location:509 → 566

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133761894..133992324 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (7) summary

cd10406
Location:680 → 782

SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins

cd11977
Location:832 → 889

SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein

cd11980
Location:603 → 662

SH3_VAV2_1; First Src homology 3 domain of VAV2 protein

smart00325
Location:197 → 370

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01223
Location:384 → 529

PH_Vav; Vav pleckstrin homology (PH) domain

cd21263
Location:2 → 120

CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins

cd20868
Location:532 → 589

C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
XM_017015110.2 → XP_016870599.1 guanine nucleotide exchange factor VAV2 isoform X4

Conserved Domains (7) summary

cd10406
Location:662 → 764

SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins

cd11977
Location:814 → 871

SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein

cd11980
Location:585 → 644

SH3_VAV2_1; First Src homology 3 domain of VAV2 protein

smart00325
Location:202 → 375

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01223
Location:389 → 511

PH_Vav; Vav pleckstrin homology (PH) domain

cd21263
Location:2 → 120

CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins

cd20868
Location:514 → 571

C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
XM_017015108.2 → XP_016870597.1 guanine nucleotide exchange factor VAV2 isoform X2

Conserved Domains (7) summary

cd10406
Location:685 → 787

SH2_Vav2; Src homology 2 (SH2) domain found in the Vav2 proteins

cd11977
Location:837 → 894

SH3_VAV2_2; C-terminal (or second) Src homology 3 domain of VAV2 protein

cd11980
Location:608 → 667

SH3_VAV2_1; First Src homology 3 domain of VAV2 protein

smart00325
Location:202 → 375

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases

cd01223
Location:389 → 534

PH_Vav; Vav pleckstrin homology (PH) domain

cd21263
Location:2 → 120

CH_VAV2; calponin homology (CH) domain found in VAV2 protein and similar proteins

cd20868
Location:537 → 594

C1_VAV2; protein kinase C conserved region 1 (C1 domain) found in VAV2 protein
XM_047423845.1 → XP_047279801.1 guanine nucleotide exchange factor VAV2 isoform X1
XM_017015113.2 → XP_016870602.1 guanine nucleotide exchange factor VAV2 isoform X5
XM_047423847.1 → XP_047279803.1 guanine nucleotide exchange factor VAV2 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145977670..146207128 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363748.1 → XP_054219723.1 guanine nucleotide exchange factor VAV2 isoform X3
XM_054363751.1 → XP_054219726.1 guanine nucleotide exchange factor VAV2 isoform X8
XM_054363749.1 → XP_054219724.1 guanine nucleotide exchange factor VAV2 isoform X4
XM_054363750.1 → XP_054219725.1 guanine nucleotide exchange factor VAV2 isoform X7
XM_054363747.1 → XP_054219722.1 guanine nucleotide exchange factor VAV2 isoform X2
XM_054363753.1 → XP_054219728.1 guanine nucleotide exchange factor VAV2 isoform X6
XM_054363752.1 → XP_054219727.1 guanine nucleotide exchange factor VAV2 isoform X5