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 dopamin... See more...

Aliases for NPTX2 Gene

Aliases for NPTX2 Gene

  • Neuronal Pentraxin 2 2 3 5
  • Neuronal Pentraxin II 2 3 4
  • Neuronal Pentraxin-2 3 4
  • Apexin 2 3
  • NP-II 3 4
  • NP2 3 4
  • Neuronal Activity-Regulated Pentaxin 3
  • NPTX2 5
  • NARP 3

External Ids for NPTX2 Gene

Previous GeneCards Identifiers for NPTX2 Gene

  • GC07P096781
  • GC07P097844
  • GC07P097858
  • GC07P097891
  • GC07P098084
  • GC07P098246
  • GC07P092845

Summaries for NPTX2 Gene

Entrez Gene Summary for NPTX2 Gene

  • 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]

GeneCards Summary for NPTX2 Gene

NPTX2 (Neuronal Pentraxin 2) is a Protein Coding gene. Diseases associated with NPTX2 include Neuropathy, Ataxia, And Retinitis Pigmentosa and Narcolepsy. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is NPTX1.

UniProtKB/Swiss-Prot Summary for NPTX2 Gene

  • Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity).

Gene Wiki entry for NPTX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPTX2 Gene

Genomics for NPTX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPTX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J098616 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 +0.7 664 2.3 KDM1A ZNF174 ZIC2 POLR2A PATZ1 EZH2 CTCF ZNF600 ZNF561 KLF9 HSALNG0059831 NPTX2 ENSG00000228335 TRRAP ZKSCAN5 ASNS RF00017-6460 TMEM130
GH07J098619 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.7 +2.8 2750 0.7 CEBPG ATF7 REST SP1 PBX2 CEBPA SOX13 CEBPB CTCF FOXA2 NPTX2 RNU6-393P RF00017-6460 TMEM130
GH07J098568 Enhancer 1 Ensembl ENCODE dbSUPER 19.3 -46.7 -46706 4 IKZF1 ZNF24 SOX6 NR3C1 NFIC POLR2A RCOR1 NFIB ZFP91 TCF12 NPTX2 PDAP1 piR-47675-105 HSALNG0059828 BAIAP2L1
GH07J098841 Enhancer 1 Ensembl ENCODE 10.8 +224.1 224127 1.6 HNRNPL CTCF ZNF629 ZNF143 PATZ1 REST RAD21 ZNF501 TRIM22 SCRT2 NPTX2 BAIAP2L1 RF00017-6464 lnc-SMURF1-2 TMEM130
GH07J098641 Enhancer 0.8 Ensembl ENCODE 12.5 +24.9 24851 1.8 RFX1 ZIC2 TCF12 IKZF2 DPF2 RUNX3 CBFB BCL11A NBN IKZF1 NPTX2 RF00017-6460 TMEM130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPTX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPTX2

Top Transcription factor binding sites by QIAGEN in the NPTX2 gene promoter:
  • C/EBPalpha
  • IRF-2
  • MyoD
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • POU3F2 (N-Oct-5b)
  • S8
  • Sox9

Genomic Locations for NPTX2 Gene

Genomic Locations for NPTX2 Gene
chr7:98,617,285-98,629,869
(GRCh38/hg38)
Size:
12,585 bases
Orientation:
Plus strand
chr7:98,246,597-98,259,181
(GRCh37/hg19)
Size:
12,585 bases
Orientation:
Plus strand

Genomic View for NPTX2 Gene

Genes around NPTX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPTX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPTX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPTX2 Gene

Proteins for NPTX2 Gene

  • Protein details for NPTX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47972-NPTX2_HUMAN
    Recommended name:
    Neuronal pentraxin-2
    Protein Accession:
    P47972
    Secondary Accessions:
    • A4D267
    • Q86XV7
    • Q96G70

    Protein attributes for NPTX2 Gene

    Size:
    431 amino acids
    Molecular mass:
    47042 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homooligomer or heterooligomer (probably pentamer) with neuronal pentraxin receptor (NPTXR).

neXtProt entry for NPTX2 Gene

Post-translational modifications for NPTX2 Gene

  • Glycosylation at Asn148, Asn189, and Asn393
  • Modification sites at PhosphoSitePlus

Other Protein References for NPTX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NPTX2
  • Boster Bio Antibodies for NPTX2

No data available for DME Specific Peptides for NPTX2 Gene

Domains & Families for NPTX2 Gene

Gene Families for NPTX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for NPTX2 Gene

InterPro:
Blocks:
  • Pentaxin
ProtoNet:

Suggested Antigen Peptide Sequences for NPTX2 Gene

GenScript: Design optimal peptide antigens:
  • Neuronal pentraxin II (NPTX2_HUMAN)
genes like me logo Genes that share domains with NPTX2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NPTX2 Gene

Function for NPTX2 Gene

Molecular function for NPTX2 Gene

UniProtKB/Swiss-Prot Function:
Likely to play role in the modification of cellular properties that underlie long-term plasticity. Binds to agar matrix in a calcium-dependent manner (By similarity).
GENATLAS Biochemistry:
pentaxin (pentraxin) 2,expressed in brain and other tissues,mediating the uptake of synaptic material and presynaptic toxins

Phenotypes From GWAS Catalog for NPTX2 Gene

Gene Ontology (GO) - Molecular Function for NPTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 30833544
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NPTX2: view
genes like me logo Genes that share phenotypes with NPTX2: view

Animal Models for NPTX2 Gene

MGI Knock Outs for NPTX2:

Animal Model Products

  • Taconic Biosciences Mouse Models for NPTX2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPTX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPTX2 Gene

Localization for NPTX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPTX2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPTX2 gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Centrosome (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0098978 glutamatergic synapse IMP 27986928
genes like me logo Genes that share ontologies with NPTX2: view

Pathways & Interactions for NPTX2 Gene

PathCards logo

SuperPathways for NPTX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NPTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 chemical synaptic transmission NAS 8530029
GO:0008306 associative learning IEA --
GO:0098962 regulation of postsynaptic neurotransmitter receptor activity IMP 27986928
genes like me logo Genes that share ontologies with NPTX2: view

No data available for Pathways by source and SIGNOR curated interactions for NPTX2 Gene

Drugs & Compounds for NPTX2 Gene

(1) Drugs for NPTX2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556

(1) Additional Compounds for NPTX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPTX2: view

Transcripts for NPTX2 Gene

mRNA/cDNA for NPTX2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPTX2

Alternative Splicing Database (ASD) splice patterns (SP) for NPTX2 Gene

No ASD Table

Relevant External Links for NPTX2 Gene

GeneLoc Exon Structure for
NPTX2

Expression for NPTX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPTX2 Gene

mRNA differential expression in normal tissues according to GTEx for NPTX2 Gene

This gene is overexpressed in Pituitary (x10.7).

Protein differential expression in normal tissues from HIPED for NPTX2 Gene

This gene is overexpressed in Vitreous humor (30.0), Islet of Langerhans (20.9), and Frontal cortex (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPTX2 Gene



Protein tissue co-expression partners for NPTX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPTX2

SOURCE GeneReport for Unigene cluster for NPTX2 Gene:

Hs.3281

mRNA Expression by UniProt/SwissProt for NPTX2 Gene:

P47972-NPTX2_HUMAN
Tissue specificity: Brain, pancreas, liver, heart and skeletal muscle. Highest levels are seen in the testis.

Evidence on tissue expression from TISSUES for NPTX2 Gene

  • Nervous system(4.7)
  • Pancreas(2.6)
  • Skin(2.1)
  • Heart(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with NPTX2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NPTX2 Gene

Orthologs for NPTX2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPTX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NPTX2 30 31
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NPTX2 30 31
  • 90.98 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NPTX2 30 31
  • 90.18 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nptx2 30 17 31
  • 88.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nptx2 30
  • 88.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia NPTX2 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NPTX2 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NPTX2 30 31
  • 75.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NPTX2 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nptx2 30
  • 69.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii nptx2a 30 31
  • 70.03 (n)
OneToMany
nptx2b 31
  • 63 (a)
OneToMany
Dr.18755 30
Species where no ortholog for NPTX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NPTX2 Gene

ENSEMBL:
Gene Tree for NPTX2 (if available)
TreeFam:
Gene Tree for NPTX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPTX2: view image

Paralogs for NPTX2 Gene

Paralogs for NPTX2 Gene

(2) SIMAP similar genes for NPTX2 Gene using alignment to 1 proteins:

  • NPTX2_HUMAN
genes like me logo Genes that share paralogs with NPTX2: view

Variants for NPTX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPTX2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
731605 Likely Benign: not provided 98,619,790(+) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NPTX2 Gene

Variation tolerance for NPTX2 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPTX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPTX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NPTX2 Gene

Disorders for NPTX2 Gene

MalaCards: The human disease database

(30) MalaCards diseases for NPTX2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, ataxia, and retinitis pigmentosa
  • narp syndrome
narcolepsy
  • narcolepsy, without cataplexy
pearson marrow-pancreas syndrome
  • sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction
kearns-sayre syndrome
  • kss
diabetes insipidus
- elite association - COSMIC cancer census association via MalaCards
Search NPTX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPTX2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NPTX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPTX2 Gene

Publications for NPTX2 Gene

  1. Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization. (PMID: 8530029) Hsu YC … Perin MS (Genomics 1995) 2 3 4 23
  2. No association between the neuronal pentraxin II gene polymorphism and autism. (PMID: 17408830) Marui T … Sasaki T (Progress in neuro-psychopharmacology & biological psychiatry 2007) 3 23 41
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 41
  4. Neuronal pentraxin II is highly upregulated in Parkinson's disease and a novel component of Lewy bodies. (PMID: 17987278) Moran LB … Graeber MB (Acta neuropathologica 2008) 3 23
  5. Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin. (PMID: 16115696) Poulsen TT … Poulsen HS (Lung cancer (Amsterdam, Netherlands) 2005) 3 23

Products for NPTX2 Gene

  • Signalway ELISA kits for NPTX2

Sources for NPTX2 Gene