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WASF2 WASP family member 2 [ Homo sapiens (human) ]

Gene ID: 10163, updated on 2-Mar-2021

Summary

Official Symbol
WASF2provided by HGNC
Official Full Name
WASP family member 2provided by HGNC
Primary source
HGNC:HGNC:12733
See related
Ensembl:ENSG00000158195 MIM:605875
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]
Expression
Ubiquitous expression in esophagus (RPKM 43.4), ovary (RPKM 33.8) and 25 other tissues See more
Orthologs
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Genomic context

See WASF2 in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (27404230..27490167, complement)
105.20201022 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 molecule like 2 Neighboring gene G protein-coupled receptor 3 Neighboring gene uncharacterized LOC105376892 Neighboring gene AT-hook DNA binding motif containing 1

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
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of WASF2 PubMed
HIV-1 VLP production/release from Jurkat T lymphocytes requires an intact RAC1-WASF2-BAIAP2-ARP3 pathway as demonstrated by siRNA knockdown experiments PubMed

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
Nef nef HIV-1-mediated effects on podosomes and migration involve Nef-HCK interaction, and HCK-mediated phosphorylation of WASP at podosomes PubMed
Pr55(Gag) gag HIV-1 Gag intracellular localization is modulated by WASF2 and BAIAP2 as demonstrated by double siRNA knockdowns of these cellular proteins (in Jurkat T cells) PubMed
gag HIV-1 Gag is required by RAC1-WASF2-BAIAP2-ARP3 pathway for HIV VLP production/release from Jurkat T lymphocytes 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
Arp2/3 complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase A regulatory subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
Rac protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament-based movement IEA
Inferred from Electronic Annotation
more info
 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ameboidal-type cell migration IEA
Inferred from Electronic Annotation
more info
 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
lamellipodium assembly IEA
Inferred from Electronic Annotation
more info
 
lamellipodium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
megakaryocyte development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Arp2/3 complex-mediated actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
postsynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
vascular endothelial growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SCAR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SCAR complex IDA
Inferred from Direct Assay
more info
PubMed 
SCAR complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
lamellipodium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
wiskott-Aldrich syndrome protein family member 2
Names
WAS protein family member 2
WASP family Verprolin-homologous protein 2
WASP family protein member 2
WASP family protein member 4
protein WAVE-2
putative Wiskott-Aldrich syndrome protein family member 4
suppressor of cyclic-AMP receptor (WASP-family)
verprolin homology domain-containing protein 2

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.

mRNA and Protein(s)

  1. NM_001201404.3NP_001188333.1  wiskott-Aldrich syndrome protein family member 2 isoform 2

    See identical proteins and their annotated locations for 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)
    AA736923, AK303011, FO393419, HY001891
    Consensus CDS
    CCDS55582.1
    UniProtKB/Swiss-Prot
    Q9Y6W5
    Related
    ENSP00000439883.1, ENST00000536657.1
  2. NM_006990.5NP_008921.1  wiskott-Aldrich syndrome protein family member 2 isoform 1

    See identical proteins and their annotated locations for NP_008921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA736923, BC040943, DC300388, FO393419
    Consensus CDS
    CCDS304.1
    UniProtKB/Swiss-Prot
    Q9Y6W5
    Related
    ENSP00000483313.1, ENST00000618852.5
    Conserved Domains (1) summary
    pfam02205
    Location:434460
    WH2; WH2 motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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