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

NYAP2 Gene

protein-coding   GIFtS: 40
GCID: GC02P226265

Neuronal Tyrosine-Phosphorylated Phosphoinositide-3-Kinase...

(Previous name: KIAA1486)
(Previous symbol: KIAA1486)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Neuronal Tyrosine-Phosphorylated Phosphoinositide-3-Kinase Adaptor
21 2
KIAA14861 2 3
Neuronal Tyrosine-Phosphorylated Phosphoinositide-3-Kinase Adapter 22

External Ids:    HGNC: 292911   Entrez Gene: 576242   Ensembl: ENSG000001444607   UniProtKB: Q9P2423   

Export aliases for NYAP2 gene to outside databases


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

GeneCards Summary for NYAP2 Gene: 
NYAP2 (neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2) is a protein-coding gene. Diseases associated with NYAP2 include neuronitis. An important paralog of this gene is NYAP1.

UniProtKB/Swiss-Prot: NYAP2_HUMAN, Q9P242
Function: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates
neuronal morphogenesis (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NYAP2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NYAP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NYAP2


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

Entrez Gene cytogenetic band: 2q36.3   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36.3

NYAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NYAP2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P226265:  view genomic region     (about GC identifiers)

Start:
226,265,364 bp from pter      End:
226,518,734 bp from pter
Size:
253,371 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NYAP2_HUMAN, Q9P242 (See protein sequence)
Recommended Name: Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2  
Size: 653 amino acids; 70548 Da
Subunit: Interacts with ACOT9, ARHGAP26 and PIK3R2. Interacts with components of the WAVE1 complex, CYFIP1 and
NCKAP1; this interaction mediates PI3K-WAVE1 association and actin cytoskeleton remodeling (By similarity)
Sequence caution: Sequence=BAA96010.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2RRN4 Q96NL2
Alternative splicing: 3 isoforms:  Q9P242-1   Q9P242-2   Q9P242-3   

Explore the universe of human proteins at neXtProt for NYAP2: NX_Q9P242

Explore proteomics data for NYAP2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues by FYN upon stimulation with CNTN5 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P242

  • NYAP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NYAP2 Protein Expression
    REFSEQ proteins: NP_065915.1  
    ENSEMBL proteins: 
     ENSP00000272907   ENSP00000386437  

    Human Recombinant Protein Products for NYAP2: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026723 NYAP2
     IPR026722 NYAP1/NYAP2

    Graphical View of Domain Structure for InterPro Entry Q9P242

    ProtoNet protein and cluster: Q9P242

    UniProtKB/Swiss-Prot: NYAP2_HUMAN, Q9P242
    Similarity: Belongs to the NYAP family


    NYAP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NYAP2_HUMAN, Q9P242
    Function: Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates
    neuronal morphogenesis (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    NYAP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NYAP2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NYAP2 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NYAP2

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014065phosphatidylinositol 3-kinase cascade ISS--
    GO:0048812neuron projection morphogenesis ISS--

    NYAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 NYAP2

    Search CenterWatch for drugs/clinical trials and news about NYAP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NYAP2 gene: 
    NM_020864.1  

    Unigene Cluster for NYAP2:

    Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2
    Hs.224409  [show with all ESTs]
    Unigene Representative Sequence: NM_020864
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272907(uc002voe.2 uc010fxa.1 uc002vof.1) ENST00000409269

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    Additional mRNA sequence: 

    AB040919.1 AK055226.1 BC131727.1 

    3 DOTS entries:

    DT.120955947  DT.70103142  DT.97799197 

    8 AceView cDNA sequences:

    AK055226 BI828006 AB040919 AI825640 AI825189 C15204 BQ338801 AW235426 

    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

    NYAP2 expression in normal human tissues (normalized intensities)      NYAP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTCCTATA
    NYAP2 Expression
    About this image


    NYAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See NYAP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NYAP2

    SOURCE GeneReport for Unigene cluster: Hs.224409
        SABiosciences Custom PCR Arrays for NYAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NYAP2

    (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 chordates.

    Orthologs for NYAP2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nyap21 , 5 RIKEN cDNA 9430031J16 gene5
    neuronal tyrosine-phophorylated phosphoinositide 3-kinase more1
    83.94(n)1
    91.42(a)1
      1 (41.75 cM)5
    2411341  NM_172849.31  NP_766437.21 
     810769505 
    chicken
    (Gallus gallus)
    Aves KIAA14861 KIAA1486 78.91(n)
    84.46(a)
      424802  XM_422618.3  XP_422618.2 
    lizard
    (Anolis carolinensis)
    Reptilia NYAP26
    neuronal tyrosine-phosphorylated phosphoinositide-...
    69(a)
    1 ↔ 1
    3(24114255-24276004)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000007971 uncharacterized protein KIAA1486-like 59.99(n)
    60.76(a)
      100000797  XM_001340889.2  XP_001340925.2 


    ENSEMBL Gene Tree for NYAP2 (if available)
    TreeFam Gene Tree for NYAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NYAP2 gene
    NYAP12  
    1 SIMAP similar gene for NYAP2 using alignment to 2 protein entries:     NYAP2_HUMAN (see all proteins):
    MYO16

    NYAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/4816 SNPs in NYAP2 are shown (see all 4816)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs612328161,2
    C--225863318(+) AAAAA-/A/AA  
            
    TCTAG
    1 -- int11NA 2
    rs1453087731,2
    --226263967(+) TATCAC/TAGTGC 1 -- us2k10--------
    rs1179019941,2
    F--226264030(+) GTATGA/TGAAAA 1 -- us2k11Minor allele frequency- T:0.04EA 120
    rs1872598491,2
    --226264082(+) TATAAA/GTTGTG 1 -- us2k10--------
    rs1413083681,2
    C--226264154(+) CTTTGA/GGAAAT 1 -- us2k10--------
    rs775968471,2
    C,F--226264201(+) CTATAG/AGAATT 1 -- us2k13Minor allele frequency- A:0.07WA NA EA 358
    rs1450282911,2
    --226264314(+) TTTCTA/TAGTGG 1 -- us2k10--------
    rs1467897691,2
    --226264535(+) CATTTC/TCATTA 1 -- us2k10--------
    rs1908380061,2
    --226264554(+) AGGGGC/TGAAAT 1 -- us2k10--------
    rs1405006741,2
    --226264564(+) TGCTTA/GTAACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NYAP2 (226265364 - 226515364 bp, first 250kb of NYAP2)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NYAP2: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NYAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for NYAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for NYAP2:    About MalaCards
    neuronitis    


    NYAP2 for disorders           About GeneDecksing


    Export disorders for NYAP2 gene to outside databases

    (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 NYAP2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with NYAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. NYAP: a phosphoprotein family that links PI3K to WAVE 1 signalling in neurons. (PubMed id 21946561)1, 3 Yokoyama K....Yamamoto T. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A genome-wide association study of early menopause and the combined impact of identified variants. (PubMed id 23307926)1 Perry J.R....Murray A. (2013)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide pol ymorphisms. (PubMed id 20889853)1 de Miguel-Yanes J.M....Meigs J.B. (2010)
    7. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. 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)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)

    (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: 57624 HGNC: 29291 AceView: KIAA1486 Ensembl:ENSG00000144460 euGenes: HUgn57624
    ECgene: NYAP2 H-InvDB: NYAP2

    (According to HUGE)
    About This Section
    HUGE: KIAA1486

    (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
    NameDescription
    PharmGKB entry for NYAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NYAP2 gene:
    Search GeneIP for patents involving NYAP2

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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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