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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WASH2P Gene

pseudogene   GIFtS: 33
GCID: GC02P114341

WAS protein family homolog 2 pseudogene

(Previous names: family with sequence similarity 39, member B )
(Previous symbol: FAM39B)
  Search for WASH2P
in our new
 Human Malady Compendium 
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
WAS Protein Family Homolog 2 Pseudogene1 2
FAM39B1 2 3
MGC520001
Family With Sequence Similarity 39, Member B1
CXYorf1-Like Protein On Chromosome 23
Protein FAM39B3

External Ids:    HGNC: 331451   Entrez Gene: 3752602   Ensembl: ENSG000001465567   UniProtKB: Q6VEQ53   
ORGUL members:         
NONCODE:n406569 n345916 n345972    

Export aliases for WASH2P gene to outside databases

Previous GC identifer: GC02P114060


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: WASH2_HUMAN, Q6VEQ5
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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WASH2P gene promoter:
         Pbx1a   MEF-2   POU3F1   STAT5A   HNF-3beta   E4BP4   MEF-2A   S8   aMEF-2   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for WASH2P

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WASH2P


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q13   Ensembl cytogenetic band:  2q13   HGNC cytogenetic band: 2q13

WASH2P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WASH2P gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P114341:  view genomic region     (about GC identifiers)

Start:
114,341,230 bp from pter      End:
114,356,655 bp from pter
Size:
15,426 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

  • n406569
  • n345916
  • n345972
114341229 114348921 114356613 chr2

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: WASH2_HUMAN, Q6VEQ5 (See protein sequence)
Recommended Name: WAS protein family homolog 2  
Size: 465 amino acids; 50312 Da
Subunit: Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3),
F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P or WASH6P), FAM21 (FAM21A, FAM21B or
FAM21C), KIAA1033, KIAA0196 and CCDC53. Interacts (via WHD1 region) with FAM21C; the interaction is direct (By
similarity)
Subcellular location: Early endosome membrane (By similarity). Recycling endosome membrane (By similarity).
Note=Localization to the endodome membrane is mediated via its interaction with FAM21 (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
Sequence caution: Sequence=AL078621; Type=Erroneous termination; Positions=25; Note=Translated as Arg;
Sequence=AL078621; Type=Erroneous termination; Positions=180; Note=Translated as Glu;

Explore the universe of human proteins at neXtProt for WASH2P: NX_Q6VEQ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6VEQ5

  • WASH2P Protein expression data from MOPED and PaxDb: --

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    WASH2P for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003124 WH2_dom
     IPR021854 WASH_WASD

    Graphical View of Domain Structure for InterPro Entry Q6VEQ5

    ProtoNet protein and cluster: Q6VEQ5

    1 Blocks protein family: IPB003124 Actin-binding WH2

    UniProtKB/Swiss-Prot: WASH2_HUMAN, Q6VEQ5
    Similarity: Belongs to the WASH1 family
    Similarity: Contains 1 WH2 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: WASH2_HUMAN, Q6VEQ5
    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 (By similarity)

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WASH2P

    2 Interacting proteins for WASH2P (Q6VEQ52, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNAP23O001612, 3MINT-8271762 I2D: score=1 
    TNFRSF21O755092, 3MINT-8274621 I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WASH2P
    Search CenterWatch for drugs/clinical trials and news about WASH2P 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for WASH2P gene: 
    NM_198943.1  

    Unigene Clusters for WASH2P:

    WAS protein family homolog 2 pseudogene
    Hs.446466  [show with all ESTs], Hs.709408  [show with all ESTs]
    Unigene Representative Sequences: AK292759, BC063893
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453662 ENST00000326632(uc010fkx.1 uc002tka.3 uc002tkd.3 uc002tkh.3)
    ENST00000538033(uc010fkz.1 uc002tkf.2) ENST00000542901(uc002tke.1)


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    Additional cDNA sequence: 

    AK289708.1 AK296182.1 AK302089.1 AY217347.1 AY341936.1 AY341937.1 BC014406.1 BC015400.1 
    BC041177.1 BC063459.1 BC063893.1 BC064371.1 BC073149.1 BC100279.1 BC106020.1 BX537637.1 
    NR_024077.2 

    24/67 DOTS entries (see all 67):

    DT.92460094  DT.95126574  DT.100864588  DT.100848231  DT.100641128  DT.454253  DT.95243425  DT.95172025 
    DT.107395  DT.120654009  DT.121302921  DT.100851542  DT.121020052  DT.100059382  DT.120654001  DT.100653448 
    DT.100829692  DT.100803430  DT.121020043  DT.95172022  DT.97768357  DT.100059380  DT.120653989  DT.121020035 

    24/287 AceView cDNA sequences (see all 287):

    BM977707 BI768939 CR610039 AY341936 CB266858 BC082240 BM546593 AI571605 
    F10620 AI207037 BV202282 AL539403 BU171764 BI753043 BI759058 BQ933504 
    BI763839 BV174799 BV201955 BV202491 BM928610 BV201949 CD107763 AA278412 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WASH2P expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for WASH2P

    SOURCE GeneReport for Unigene clusters: Hs.446466 Hs.709408
        SABiosciences Custom PCR Arrays for WASH2P
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WASH2P

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for WASH2P gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wash5 open reading frame 19   --   17 (35.26 cM) 66111546 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/477 NCBI SNPs in WASH2P are shown (see all 477    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs24186781,2
    C,H--114339247(+) GGCATC/TGTGGA 1 -- us2k10--------
    rs1382910711,2
    C,--114339306(+) AGTAC-/TCTTTT 1 -- us2k10--------
    rs1472404791,2
    C,--114340065(+) TCACT-/TGGTGGGA 2 -- us2k1 ds50010--------
    rs799576651,2
    C--114340116(+) AGAGAG/TAGAGA 2 -- us2k1 ds50011Minor allele frequency- T:0.50CSA 2
    rs785917501,2
    F--114340139(+) AGAGAG/TAGAGA 2 -- ds5001 us2k12Minor allele frequency- T:0.50NA 6
    rs81797431,2
    C--114340258(+) CCTACC/GAAAGG 2 -- ds5001 us2k10--------
    rs76025221,2
    C--114340260(+) TACCAA/GAGGCC 2 -- us2k1 ds50010--------
    rs5361971,2
    A--114340311(-) CAAATG/TCTTAT 2 -- us2k1 ds50010--------
    rs5360551,2
    C,A--114340367(-) GGTAAG/AGAAGA 2 -- ds5001 us2k11Minor allele frequency- A:0.50NA 2
    rs1112450881,2
    C--114340376(+) CCTCTA/GGTAAG 2 -- us2k1 ds50010--------

    HapMap Linkage Disequilibrium report for WASH2P (114341230 - 114356655 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for WASH2P
         5 CNVs: 74220 89901 89903 31000 3386

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WASH2P gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with WASH2P)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human subtelomeric WASH genes encode a new subclass of the WASP family. (PubMed id 18159949)1, 2, 3 Linardopoulou E.V.... Trask B.J. (2007)
    2. Diverse fates of paralogs following segmental duplication of telomeric genes. (PubMed id 15233989)1, 2 Wong A....Ledbetter D.H. (2004)
    3. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. (PubMed id 10655549)1, 2 Ciccodicola A.... D'Urso M. (2000)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    6. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    7. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 375260 HGNC: 33145 AceView: MGC52000 Ensembl:ENSG00000146556 euGenes: HUgn375260
    ECgene: WASH2P H-InvDB: WASH2P

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for WASH2P gene:
    Search GeneIP for patents involving WASH2P

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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