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NPTX2 neuronal pentraxin 2 [ Homo sapiens (human) ]

Gene ID: 4885, updated on 23-Nov-2021

Summary

Official Symbol
NPTX2provided by HGNC
Official Full Name
neuronal pentraxin 2provided by HGNC
Primary source
HGNC:HGNC:7953
See related
Ensembl:ENSG00000106236 MIM:600750
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

See NPTX2 in Genome Data Viewer
Location:
7q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (98617285..98629869)
105.20201022 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 ribosomal protein S26 pseudogene 33 Neighboring gene uncharacterized LOC105375419 Neighboring gene uncharacterized LOC105375418

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 
located_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 glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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_002523.3NP_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
    P47972
    Related
    ENSP00000265634.3, ENST00000265634.4
    Conserved Domains (3) summary
    smart00159
    Location:219424
    PTX; Pentraxin / C-reactive protein / pentaxin family
    pfam15070
    Location:117189
    GOLGA2L5; Putative golgin subfamily A member 2-like protein 5
    cl25732
    Location:52213
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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