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Aliases for WASH2P Gene

Aliases for WASH2P Gene

  • WAS Protein Family Homolog 2 Pseudogene 2 3 5
  • Family With Sequence Similarity 39, Member B 2 3
  • FAM39B 3 4
  • CXYorf1-Like Protein On Chromosome 2 4
  • Protein FAM39B 4

External Ids for WASH2P Gene

Previous HGNC Symbols for WASH2P Gene

  • FAM39B

Previous GeneCards Identifiers for WASH2P Gene

  • GC02P114060
  • GC02P114341

Summaries for WASH2P Gene

GeneCards Summary for WASH2P Gene

WASH2P (WAS Protein Family Homolog 2 Pseudogene) is a Pseudogene.

UniProtKB/Swiss-Prot for WASH2P Gene

  • Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T-cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).

Additional gene information for WASH2P Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASH2P Gene

Genomics for WASH2P Gene

GeneHancer (GH) Regulatory Elements for WASH2P Gene

Promoters and enhancers for WASH2P Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I113582 Promoter/Enhancer 1.6 Ensembl ENCODE 564.6 +0.2 231 2.9 HDGF SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B WASH2P MIR1302-3 RABL2A RPS20P11 RNU6-744P ENSG00000233479 DDX11L2
GH02I113885 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +307.2 307186 9.8 MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ACTR3 LOC101060091 ENSG00000270019 SLC35F5 WASH2P ENSG00000244063 LINC01191 RPL23AP7 DDX11L2 CBWD2
GH02I112867 Enhancer 1.4 Ensembl ENCODE dbSUPER 23.1 -714.4 -714413 3.6 PKNOX1 CLOCK SMAD1 ATF1 FEZF1 ZNF2 ZNF121 ZNF213 KLF7 FOS IL1B WASH2P IL1A RABL2A IL37 RGPD8 CKAP2L ZC3H8 PIR40727 XIAPP3
GH02I113056 Enhancer 0.3 ENCODE 11.7 -526.7 -526735 1.6 ZNF707 IL36RN IL36B WASH2P ENSG00000270019 POLR1B
GH02I113603 Enhancer 0.4 ENCODE 0.4 +19.2 19205 0.1 POLR2A NR2C2 DDX11L2 bA395L14.12 ACTR3 WASH2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WASH2P on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WASH2P gene promoter:

Genomic Locations for WASH2P Gene

Genomic Locations for WASH2P Gene
chr2:113,583,653-113,599,043
(GRCh38/hg38)
Size:
15,391 bases
Orientation:
Plus strand
chr2:114,341,230-114,356,655
(GRCh37/hg19)

Genomic View for WASH2P Gene

Genes around WASH2P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASH2P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASH2P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASH2P Gene

Proteins for WASH2P Gene

  • Protein details for WASH2P Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6VEQ5-WASH2_HUMAN
    Recommended name:
    WAS protein family homolog 2
    Protein Accession:
    Q6VEQ5

    Protein attributes for WASH2P Gene

    Size:
    465 amino acids
    Molecular mass:
    50312 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts (via WHD1 region) with WASHC2C; the interaction is direct. Interacts with alpha-tubulin. Interacts with BECN1; WASHC1 and AMBRA1 can competetively interact with BECN1. Interacts with BLOC1S2; may associate with the BLOC-1 complex. Interacts with tubulin gamma chain (TUBG1 or TUBG2). Interacts with EXOC1, EXOC4, EXOC8; in MMP14-positive endosomes in breast tumor cells; indicative for an association with the exocyst complex (By similarity).
    Miscellaneous:
    • WASH genes duplicated to multiple chromosomal ends during primate evolution, with highest copy number reached in humans, whose WASH repertoires probably vary extensively among individuals (PubMed:18159949). It is therefore difficult to determine which gene is functional or not. The telomeric region of chromosome 9p is paralogous to the pericentromeric regions of chromosome 9 as well as to 2q. Paralogous regions contain 7 transcriptional units. Duplicated WASH genes are also present in the Xq/Yq pseudoautosomal region, as well as on chromosome 1 and 15. The chromosome 16 copy seems to be a pseudogene.
    SequenceCaution:
    • Sequence=AL078621; Type=Erroneous termination; Positions=25; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=AL078621; Type=Erroneous termination; Positions=180; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for WASH2P Gene

Post-translational modifications for WASH2P Gene

No Post-translational modifications

No data available for DME Specific Peptides for WASH2P Gene

Domains & Families for WASH2P Gene

Gene Families for WASH2P Gene

Protein Domains for WASH2P Gene

Suggested Antigen Peptide Sequences for WASH2P Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6VEQ5

UniProtKB/Swiss-Prot:

WASH2_HUMAN :
  • The VCA (verprolin, cofilin, acidic) domain promotes actin polymerization by the Arp2/3 complex in vitro.
  • Belongs to the WASH1 family.
Domain:
  • The VCA (verprolin, cofilin, acidic) domain promotes actin polymerization by the Arp2/3 complex in vitro.
Family:
  • Belongs to the WASH1 family.
genes like me logo Genes that share domains with WASH2P: view

Function for WASH2P Gene

Molecular function for WASH2P Gene

UniProtKB/Swiss-Prot Function:
Acts as a nucleation-promoting factor at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Involved in endocytic trafficking of EGF. Its assembly in the WASH core complex seems to inhibit its NPF activity and via WASHC2 is required for its membrane targeting. Involved in transferrin receptor recycling. Regulates the trafficking of endosomal alpha5beta1 integrin to the plasma membrane and involved in invasive cell migration. In T-cells involved in endosome-to-membrane recycling of receptors including T-cell receptor (TCR), CD28 and ITGAL; proposed to be implicated in T-cell proliferation and effector function. In dendritic cells involved in endosome-to-membrane recycling of major histocompatibility complex (MHC) class II probably involving retromer and subsequently allowing antigen sampling, loading and presentation during T-cell activation. Involved in Arp2/3 complex-dependent actin assembly driving Salmonella typhimurium invasion independent of ruffling. Involved in the exocytosis of MMP14 leading to matrix remodeling during invasive migration and implicating late endosome-to-plasma membrane tubular connections and cooperation with the exocyst complex. Involved in negative regulation of autophagy independently from its role in endosomal sorting by inhibiting BECN1 ubiquitination to inactivate PIK3C3/Vps34 activity (By similarity).

Phenotypes for WASH2P Gene

GenomeRNAi human phenotypes for WASH2P:
genes like me logo Genes that share phenotypes with WASH2P: view

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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for WASH2P Gene

Localization for WASH2P Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASH2P Gene

Early endosome membrane. Recycling endosome membrane. Late endosome. Cytoplasmic vesicle, autophagosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the endosome membrane is mediated via its interaction with WASHC2. {ECO:0000250 UniProtKB:A8K0Z3}.

No data available for Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for WASH2P Gene

Pathways & Interactions for WASH2P Gene

SuperPathways for WASH2P Gene

No Data Available

Interacting Proteins for WASH2P Gene

Selected Interacting proteins: Q6VEQ5-WASH2_HUMAN for WASH2P Gene via IID MINT

Gene Ontology (GO) - Biological Process for WASH2P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WASH2P Gene

Drugs & Compounds for WASH2P Gene

No Compound Related Data Available

Transcripts for WASH2P Gene

mRNA/cDNA for WASH2P Gene

(1) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(287) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WASH2P Gene

WAS protein family homolog 2 pseudogene:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASH2P Gene

No ASD Table

Relevant External Links for WASH2P Gene

GeneLoc Exon Structure for
WASH2P
ECgene alternative splicing isoforms for
WASH2P

Expression for WASH2P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WASH2P Gene

Protein differential expression in normal tissues from HIPED for WASH2P Gene

This gene is overexpressed in Lung (56.5) and Peripheral blood mononuclear cells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for WASH2P Gene



Protein tissue co-expression partners for WASH2P Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WASH2P Gene:

WASH2P

SOURCE GeneReport for Unigene cluster for WASH2P Gene:

Hs.446466
genes like me logo Genes that share expression patterns with WASH2P: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASH2P Gene

Orthologs for WASH2P Gene

Evolution for WASH2P Gene

ENSEMBL:
Gene Tree for WASH2P (if available)
TreeFam:
Gene Tree for WASH2P (if available)

No data available for Orthologs for WASH2P Gene

Paralogs for WASH2P Gene

(8) SIMAP similar genes for WASH2P Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with WASH2P: view

No data available for Paralogs for WASH2P Gene

Variants for WASH2P Gene

Sequence variations from dbSNP and Humsavar for WASH2P Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1005383668 -- 113,593,142(+) G/A intron_variant
rs1005475163 -- 113,582,600(+) C/G upstream_transcript_variant
rs1011199433 -- 113,597,332(+) A/G intron_variant
rs1011234191 -- 113,599,411(+) T/C/G downstream_transcript_variant
rs1013324896 -- 113,589,969(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WASH2P Gene

Variant ID Type Subtype PubMed ID
nsv954795 CNV duplication 24416366
nsv821507 CNV duplication 20802225
nsv582714 CNV gain 21841781
nsv1154012 CNV duplication 26484159
nsv1132504 CNV duplication 24896259
nsv1132503 CNV duplication 24896259
nsv1124810 CNV duplication 24896259
nsv1077890 CNV duplication 25765185
nsv1076494 CNV duplication 25765185
nsv10133 CNV gain 18304495
esv3592016 CNV gain 21293372
esv3584028 CNV loss 25503493
esv3349788 CNV duplication 20981092
esv2759085 CNV gain+loss 17122850
esv24774 CNV gain 19812545
dgv2216e59 CNV duplication 20981092
dgv1165e212 CNV loss 25503493
dgv1164e212 CNV loss 25503493
nsv961641 CNV duplication 23825009
nsv961640 CNV duplication 23825009
nsv961493 CNV duplication 23825009

Additional Variant Information for WASH2P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASH2P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for WASH2P Gene

Disorders for WASH2P Gene

Additional Disease Information for WASH2P

No disorders were found for WASH2P Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for WASH2P Gene

Publications for WASH2P Gene

  1. Human subtelomeric WASH genes encode a new subclass of the WASP family. (PMID: 18159949) Linardopoulou EV … Trask BJ (PLoS genetics 2007) 2 3 4 58
  2. Diverse fates of paralogs following segmental duplication of telomeric genes. (PMID: 15233989) Wong A … Ledbetter DH (Genomics 2004) 3 4 58
  3. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. (PMID: 10655549) Ciccodicola A … D'Urso M (Human molecular genetics 2000) 3 4 58
  4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. (PMID: 21244100) Virok DP … Fülöp L (Journal of proteome research 2011) 3 58
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for WASH2P Gene

Sources for WASH2P Gene

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