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    NPTX2 neuronal pentraxin 2 [ Homo sapiens (human) ]

    Gene ID: 4885, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NPTX2provided by HGNC
    Official Full Name
    neuronal pentraxin 2provided by HGNC
    Primary source
    HGNC:HGNC:7953
    See related
    Ensembl:ENSG00000106236 MIM:600750; AllianceGenome:HGNC:7953
    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
    NP2; NARP; NP-II
    Summary
    This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]
    Expression
    Biased expression in brain (RPKM 31.6), testis (RPKM 20.6) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NPTX2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98617285..98629869)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99848957..99861534)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98246597..98259181)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 82 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98104799-98105345 Neighboring gene ribosomal protein S26 pseudogene 33 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98247425-98248051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98255648-98256154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98258243-98258856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26308 Neighboring gene uncharacterized LOC105375419 Neighboring gene uncharacterized LOC105375418

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A model of human neural networks reveals NPTX2 pathology in ALS and FTLD. Hruska-Plochan M, et al. Nature, 2024 Feb. PMID 38355792, Free PMC Article
    2. Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization. Hsu YC, et al. Genomics, 1995 Jul 20. PMID 8530029
    3. No association between the neuronal pentraxin II gene polymorphism and autism. Marui T, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2007 May 9. PMID 17408830
    4. Quantitative analysis of NPTX2 hypermethylation is a promising molecular diagnostic marker for pancreatic cancer. Park JK, et al. Pancreas, 2007 Oct. PMID 17895837
    5. Neuronal pentraxin II is highly upregulated in Parkinson's disease and a novel component of Lewy bodies. Moran LB, et al. Acta Neuropathol, 2008 Apr. PMID 17987278, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
      Title: A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
    2. NPTX2 in Cerebrospinal Fluid Predicts the Progression From Normal Cognition to Mild Cognitive Impairment.
      Title: NPTX2 in Cerebrospinal Fluid Predicts the Progression From Normal Cognition to Mild Cognitive Impairment.
    3. Assessments of the Utilities of CSF NPTX2 for Disease Progression in Cognitively Normal Individuals Who Progress to Clinical MCI and AD.
      Title: Assessments of the Utilities of CSF NPTX2 for Disease Progression in Cognitively Normal Individuals Who Progress to Clinical MCI and AD.
    4. NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine Methylation of SNAIL.
      Title: NPTX2 Promotes Epithelial-Mesenchymal Transition in Cutaneous Squamous Cell Carcinoma through METTL3-Mediated N6-Methyladenosine Methylation of SNAIL.
    5. A Combination of Neurofilament Light, Glial Fibrillary Acidic Protein, and Neuronal Pentraxin-2 Discriminates Between Frontotemporal Dementia and Other Dementias.
      Title: A Combination of Neurofilament Light, Glial Fibrillary Acidic Protein, and Neuronal Pentraxin-2 Discriminates Between Frontotemporal Dementia and Other Dementias.
    6. Neuronal pentraxin-2 (NPTX2) serum levels during an acute psychotic episode in patients with schizophrenia.
      Title: Neuronal pentraxin-2 (NPTX2) serum levels during an acute psychotic episode in patients with schizophrenia.
    7. Silencing circular RNA circ_0054537 and upregulating microRNA-640 suppress malignant progression of renal cell carcinoma via regulating neuronal pentraxin-2 (NPTX2).
      Title: Silencing circular RNA circ_0054537 and upregulating microRNA-640 suppress malignant progression of renal cell carcinoma via regulating neuronal pentraxin-2 (NPTX2).
    8. Do pentraxin 3 and neural pentraxin 2 have different facet function in hepatocellular carcinoma?
      Title: Do pentraxin 3 and neural pentraxin 2 have different facet function in hepatocellular carcinoma?
    9. Neuronal pentraxin II (NPTX2) hypermethylation promotes cell proliferation but inhibits cell cycle arrest and apoptosis in gastric cancer cells by suppressing the p53 signaling pathway.
      Title: Neuronal pentraxin II (NPTX2) hypermethylation promotes cell proliferation but inhibits cell cycle arrest and apoptosis in gastric cancer cells by suppressing the p53 signaling pathway.
    10. Diagnostic value of neuronal pentraxin II methylation in patients with pancreatic cancer: Meta-analysis.
      Title: Diagnostic value of neuronal pentraxin II methylation in patients with pancreatic cancer: Meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-10)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in associative learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neuronal pentraxin-2
    Names
    apexin
    neuronal activity-regulated pentaxin
    neuronal pentraxin II

    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.

    Genomic

    1. NG_009905.1 RefSeqGene

      Range
      5001..17585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002523.3 → NP_002514.1  neuronal pentraxin-2 precursor

      See identical proteins and their annotated locations for NP_002514.1

      Status: REVIEWED

      Source sequence(s)
      BC009924, BI561105
      Consensus CDS
      CCDS5657.1
      UniProtKB/Swiss-Prot
      A4D267, P47972, Q86XV7, Q96G70
      Related
      ENSP00000265634.3, ENST00000265634.4
      Conserved Domains (3) summary
      smart00159
      Location:219 → 424
      PTX; Pentraxin / C-reactive protein / pentaxin family
      pfam15070
      Location:117 → 189
      GOLGA2L5; Putative golgin subfamily A member 2-like protein 5
      cl25732
      Location:52 → 213
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      98617285..98629869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      99848957..99861534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P47972.2 GenPept UniProtKB/Swiss-Prot:P47972

    Gene LinkOut

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

    Chemical Information
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