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WASF2 WAS protein family, member 2 [ Homo sapiens (human) ]

Gene ID: 10163, updated on 7-Dec-2014
Official Symbol
WASF2provided by HGNC
Official Full Name
WAS protein family, member 2provided by HGNC
Primary source
HGNC:HGNC:12733
See related
Ensembl:ENSG00000158195; HPRD:05796; MIM:605875; Vega:OTTHUMG00000003393
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
IMD2; SCAR2; WASF4; WAVE2; dJ393P12.2
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
See WASF2 in Epigenomics, MapViewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (27404230..27490167, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27730734..27816678, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CD164 sialomucin-like 2 Neighboring gene G protein-coupled receptor 3 Neighboring gene AT hook, DNA binding motif, containing 1 Neighboring gene FGR proto-oncogene, Src family tyrosine kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-mediated phosphorylation of WAVE2 requires both G(alpha)i-dependent and -independent pathways, and is conserved both in X4 and R5 viral infection of resting CD4 T cells and primary macrophages PubMed
env HIV-1 triggers WAVE2 phosphorylation at serine 351 through HIV-1 gp120 binding to the chemokine coreceptor CXCR4 or CCR5 during entry PubMed
env Downregulation of the Wave2 signaling complex (Tiam-1, Abl, Rac, IRSp53, Wave2, and Arp3) with siRNA reduces HIV-1 Env-mediated cell-cell fusion and virus-cell fusion PubMed

Go to the HIV-1, Human Interaction Database

  • Adherens junction, organism-specific biosystem (from KEGG)
    Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Adherens junction, conserved biosystem (from KEGG)
    Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
    Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
    Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
  • E-cadherin signaling in the nascent adherens junction, organism-specific biosystem (from Pathway Interaction Database)
    E-cadherin signaling in the nascent adherens junction, organism-specific biosystem
    E-cadherin signaling in the nascent adherens junction
  • ErbB1 downstream signaling, organism-specific biosystem (from Pathway Interaction Database)
    ErbB1 downstream signaling, organism-specific biosystem
    ErbB1 downstream signaling
  • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
    Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    RAC1 signaling pathway, organism-specific biosystem
    RAC1 signaling pathway
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Shigellosis, organism-specific biosystem (from KEGG)
    Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein complex binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
SCAR complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
wiskott-Aldrich syndrome protein family member 2
Names
wiskott-Aldrich syndrome protein family member 2
protein WAVE-2
WASP family protein member 2
WASP family protein member 4
WASP family Verprolin-homologous protein 2
verprolin homology domain-containing protein 2
suppressor of cyclic-AMP receptor (WASP-family)
putative Wiskott-Aldrich syndrome protein family member 4

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.

mRNA and Protein(s)

  1. NM_001201404.1NP_001188333.1  wiskott-Aldrich syndrome protein family member 2 isoform 2

    See proteins identical to NP_001188333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK303011, AY007122, DC376823, FO393419
    Consensus CDS
    CCDS55582.1
    UniProtKB/Swiss-Prot
    Q9Y6W5
  2. NM_006990.3NP_008921.1  wiskott-Aldrich syndrome protein family member 2 isoform 1

    See proteins identical to NP_008921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB026542, AY007122, BC040943, DC376823, FO393419
    Consensus CDS
    CCDS304.1
    UniProtKB/Swiss-Prot
    Q9Y6W5
    Related
    ENSP00000483313, OTTHUMP00000275743, ENST00000618852, OTTHUMT00000009516
    Conserved Domains (1) summary
    pfam02205
    Location:434460
    WH2; WH2 motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    27404230..27490167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    27845480..27932073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    25986791..26072767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)