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NPTX2 neuronal pentraxin 2 [ Homo sapiens (human) ]

Gene ID: 4885, updated on 28-Oct-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
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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: HPA RNA-seq normal tissues 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 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)

Genotypes

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 molecular_function ND
No biological Data available
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

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