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Aliases for NPTX2 Gene

Aliases for NPTX2 Gene

  • Neuronal Pentraxin 2 2 3 5
  • Neuronal Pentraxin II 2 3 4
  • Apexin 2 3
  • NP-II 3 4
  • NP2 3 4
  • Neuronal Activity-Regulated Pentaxin 3
  • Neuronal Pentraxin-2 3
  • 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 Narcolepsy and Kearns-Sayre Syndrome. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is NPTX1.

UniProtKB/Swiss-Prot 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

Additional gene information for NPTX2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPTX2 Gene

Genomics for NPTX2 Gene

Regulatory Elements for NPTX2 Gene

Enhancers for NPTX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H098568 0.9 ENCODE dbSUPER 19.2 -46.7 -46706 3 NFIB SOX6 NR3C1 ZNF121 TCF12 NFIC POLR2A IKZF1 KDM1A ZNF24 NPTX2 PDAP1 RPS26P33
GH07H098470 1.4 FANTOM5 Ensembl ENCODE 10.6 -146.6 -146574 1 KLF1 ATF1 ZFP64 MAX ZNF140 ZNF266 ZNF697 ZNF664 ZNF791 POLR2A TRRAP LOC101927550 LOC100131859 LOC100419643 RPS3AP26 PTCD1 SMURF1 NPTX2 BAIAP2L1 ENSG00000272950
GH07H098841 1.1 Ensembl ENCODE 10.8 +224.3 224316 1 RB1 FEZF1 ZNF2 RAD21 RFX5 ZNF121 SCRT2 ZNF143 FOS ATF7 NPTX2 BAIAP2L1 TMEM130 GC07M098795 RNU6-393P
GH07H098433 0.9 ENCODE 10.9 -183.8 -183792 0 HDGF PKNOX1 RB1 ARNT SIN3A FEZF1 BMI1 ZNF2 RAD21 ZEB1 BAIAP2L1 NPTX2 ENSG00000272950 PIR35529
GH07H098641 0.7 ENCODE 12.4 +24.9 24851 1 TBL1XR1 BMI1 EBF1 ZIC2 POLR2A RUNX3 IKZF2 SMARCA5 RFX1 NR2F1 NPTX2 LOC105375419
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPTX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NPTX2 Gene

Chromosome:
7
Start:
98,617,285 bp from pter
End:
98,629,869 bp from pter
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

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

Suggested Antigen Peptide Sequences for NPTX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NPTX2: view

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

Function for NPTX2 Gene

Molecular function for NPTX2 Gene

GENATLAS Biochemistry:
pentaxin (pentraxin) 2,expressed in brain and other tissues,mediating the uptake of synaptic material and presynaptic toxins
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).

Gene Ontology (GO) - Molecular Function for NPTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
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

Clone Products

  • Applied Biological Materials Clones for NPTX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
mitochondrion 2
endoplasmic reticulum 2
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NPTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with NPTX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPTX2 Gene

Pathways & Interactions for NPTX2 Gene

SuperPathways for NPTX2 Gene

No Data Available

Interacting Proteins for NPTX2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000265634%0d%0a9606.ENSP00000327545%0d%0a
Selected Interacting proteins: ENSP00000265634 P47972-NPTX2_HUMAN for NPTX2 Gene via STRING IID

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 --
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 0

(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

Unigene Clusters for NPTX2 Gene

Neuronal pentraxin II:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NPTX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for NPTX2 Gene

GeneLoc Exon Structure for
NPTX2
ECgene alternative splicing isoforms for
NPTX2

Expression for NPTX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of NPTX2 Gene:

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(4.6)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with NPTX2: view

Primer Products

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 33 34
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia NPTX2 33 34
  • 90.98 (n)
dog
(Canis familiaris)
Mammalia NPTX2 33 34
  • 90.18 (n)
mouse
(Mus musculus)
Mammalia Nptx2 33 16 34
  • 88.81 (n)
rat
(Rattus norvegicus)
Mammalia Nptx2 33
  • 88.33 (n)
oppossum
(Monodelphis domestica)
Mammalia NPTX2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPTX2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPTX2 33 34
  • 75.97 (n)
lizard
(Anolis carolinensis)
Reptilia NPTX2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nptx2 33
  • 69.98 (n)
zebrafish
(Danio rerio)
Actinopterygii nptx2a 33 34
  • 70.03 (n)
nptx2b 34
  • 63 (a)
OneToMany
Dr.18755 33
Species where no ortholog for NPTX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for NPTX2 Gene

Paralogs for NPTX2 Gene

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

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

Variants for NPTX2 Gene

Sequence variations from dbSNP and Humsavar for NPTX2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000018280 -- 98,628,909(+) CAAGT(A/G)GAGGC utr-variant-3-prime
rs1000180672 -- 98,624,249(+) ACTGC(A/G)CTTGG intron-variant
rs1000347891 -- 98,617,735(+) AGCTA(A/G)CGCGC reference, missense
rs1000474776 -- 98,629,084(+) CCCGC(C/T)GGTGA utr-variant-3-prime
rs1000694831 -- 98,617,298(+) GAGCA(G/T)CGCGG utr-variant-5-prime

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)

Relevant External Links for NPTX2 Gene

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

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

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

Disorder Aliases PubMed IDs
narcolepsy
  • narcolepsy, without cataplexy
kearns-sayre syndrome
  • ophthalmoplegia
leber optic atrophy
  • leber hereditary optic neuropathy
mitochondrial metabolism disease
  • mitochondrial diseases
3-methylglutaconic aciduria, type v
  • 3-methylglutaconic aciduria type 5
- elite association - COSMIC cancer census association via MalaCards
Search NPTX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NPTX2

Genetic Association Database (GAD)
NPTX2
Human Genome Epidemiology (HuGE) Navigator
NPTX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPTX2
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 22 60
  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 22 45 60
  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 45 60
  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 22 60
  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 22 60

Products for NPTX2 Gene

Sources for NPTX2 Gene

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