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    NYAP2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 [ Homo sapiens (human) ]

    Gene ID: 57624, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NYAP2provided by HGNC
    Official Full Name
    neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2provided by HGNC
    Primary source
    HGNC:HGNC:29291
    See related
    Ensembl:ENSG00000144460 MIM:615478; AllianceGenome:HGNC:29291
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1486
    Summary
    Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase signaling. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See NYAP2 in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (225397939..225703654)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (225879790..226185592)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (226264426..226568370)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 10 Neighboring gene uncharacterized LOC124906121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12386 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:225965176-225966375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:225968140-225969339 Neighboring gene microRNA 4439 Neighboring gene NANOG hESC enhancer GRCh37_chr2:226182976-226183547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:226331677-226332177 Neighboring gene MPRA-validated peak4058 silencer Neighboring gene MPRA-validated peak4060 silencer Neighboring gene MPRA-validated peak4061 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12387 Neighboring gene uncharacterized LOC105373914 Neighboring gene uncharacterized LOC107985992 Neighboring gene Sharpr-MPRA regulatory region 10559 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:226980528-226981354 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:226989173-226989719 Neighboring gene Sharpr-MPRA regulatory region 2716 Neighboring gene uncharacterized LOC646736

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A genome-wide association study of early menopause and the combined impact of identified variants. Perry JR, et al. Hum Mol Genet, 2013 Apr 1. PMID 23307926, Free PMC Article
    2. NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. Yokoyama K, et al. EMBO J, 2011 Sep 23. PMID 21946561, Free PMC Article
    3. Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms. de Miguel-Yanes JM, et al. Diabetes Care, 2011 Jan. PMID 20889853, Free PMC Article
    4. 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. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
    5. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of early menopause and the combined impact of identified variants.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1486, AC067961.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 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_001371273.1 → NP_001358202.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC016717, AC019231, AC067961
      Consensus CDS
      CCDS92950.1
      UniProtKB/TrEMBL
      A0A8V8N5G5
      Related
      ENSP00000272907.7, ENST00000272907.8
      Conserved Domains (2) summary
      pfam15439
      Location:56 → 431
      NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
      pfam15452
      Location:472 → 719
      NYAP_C; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

    2. NM_020864.2 → NP_065915.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform 2

      See identical proteins and their annotated locations for NP_065915.1

      Status: VALIDATED

      Source sequence(s)
      AB040919, AC019231, AC067961, DA230522
      Consensus CDS
      CCDS46529.1
      UniProtKB/Swiss-Prot
      A2RRN4, Q96NL2, Q9P242
      Related
      ENSP00000490942.1, ENST00000636099.1
      Conserved Domains (2) summary
      pfam15439
      Location:56 → 431
      NYAP_N; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter
      pfam15452
      Location:472 → 647
      NYAP_C; Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      225397939..225703654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445201.1 → XP_047301157.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform X1

      UniProtKB/TrEMBL
      A0A8V8N5G5

    2. XM_047445200.1 → XP_047301156.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform X1

      UniProtKB/TrEMBL
      A0A8V8N5G5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      225879790..226185592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343189.1 → XP_054199164.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform X1

    2. XM_054343188.1 → XP_054199163.1  neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P242.3 GenPept UniProtKB/Swiss-Prot:Q9P242

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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