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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
External Ids for NPTX2 Gene
- HGNC: 7953
- Entrez Gene: 4885
- Ensembl: ENSG00000106236
- OMIM: 600750
- UniProtKB: P47972
Previous GeneCards Identifiers for NPTX2 Gene
- GC07P096781
- GC07P097844
- GC07P097858
- GC07P097891
- GC07P098084
- GC07P098246
- GC07P092845
Summaries 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. 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).
Additional gene information for NPTX2 Gene
- Monarch Initiative
- Search for NPTX2 at DataMed
- Search for NPTX2 at HumanCyc
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 for NPTX2 Gene
Promoters and enhancers for NPTX2 Gene
- 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 UCSC Golden Path with GeneCards custom track
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:
-
- 7q22.1 by HGNC
- 7q22.1 by Entrez Gene
- 7q22.1 by Ensembl
NPTX2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for NPTX2 Gene
Post-translational modifications for NPTX2 Gene
Other Protein References for NPTX2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences NPTX2 Antibody (LS-B2694) and NPTX2 Antibody (LS-B9779)
- Creative Diagnostics Anti-NPTX2 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for NPTX2
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-
Abcam antibodies for NPTX2
- Invitrogen Antibodies for NPTX2 (AFLGC-NPTX2)
-
Biorbyt antibodies for NPTX2
-
Custom Antibody ServicesProSci Antibodies for NPTX2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NPTX2
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- antibodies-online: Show 9 available NPTX2 Proteins ranked by validation data
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-
Quality Products:
-
Abcam proteins for NPTX2
Assay Products
- Aviva Systems Biology NPTX2 ELISA Kit (Human) (OKDD00434) and NPTX2 ELISA Kit (Human) (OKCD00234)
- Novus Biologicals ELISA Kits for NPTX2
- antibodies-online: Show 17 available NPTX2 Elisa Kits ranked by validation data
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-
Quality Products:
-
Signalway ELISA kits 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
- Blocks:
-
- Pentaxin
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NPTX2 Gene
- GenScript: Design optimal peptide antigens:
-
- Neuronal pentraxin II (NPTX2_HUMAN)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for NPTX2 Gene
- MGI mutant phenotypes for NPTX2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NPTX2:
Animal Model Products
-
Taconic Biosciences Mouse Models for NPTX2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NPTX2 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for NPTX2
miRNA for NPTX2 Gene
- miRTarBase miRNAs that target NPTX2
-
- hsa-mir-423-3p (MIRT042492)
- hsa-mir-135b-3p (MIRT447581)
- hsa-mir-3686 (MIRT447582)
- hsa-mir-20b-3p (MIRT447583)
- hsa-mir-3137 (MIRT447584)
- hsa-mir-148b-5p (MIRT447585)
- hsa-mir-6874-3p (MIRT447586)
- hsa-mir-9500 (MIRT447587)
- hsa-mir-6822-5p (MIRT447588)
- hsa-mir-6750-5p (MIRT447589)
- hsa-mir-5584-5p (MIRT447590)
- hsa-mir-4659b-3p (MIRT719423)
- hsa-mir-4659a-3p (MIRT719424)
- hsa-mir-576-5p (MIRT719425)
- hsa-mir-920 (MIRT719426)
- hsa-mir-6726-5p (MIRT719427)
- hsa-mir-5591-5p (MIRT719428)
- hsa-mir-4300 (MIRT719429)
- hsa-mir-6090 (MIRT719430)
- hsa-mir-6827-5p (MIRT719431)
- hsa-mir-4778-3p (MIRT719432)
- hsa-mir-1248 (MIRT719433)
- hsa-mir-6871-5p (MIRT719434)
- hsa-mir-3614-3p (MIRT719435)
- hsa-mir-5197-5p (MIRT719436)
- hsa-mir-4762-3p (MIRT719437)
- hsa-mir-4303 (MIRT719438)
- hsa-mir-4279 (MIRT719439)
- hsa-mir-6886-3p (MIRT719440)
- hsa-mir-6751-3p (MIRT719441)
- hsa-mir-1199-5p (MIRT719442)
- hsa-mir-5088-3p (MIRT719443)
- hsa-mir-129-2-3p (MIRT719444)
- hsa-mir-129-1-3p (MIRT719445)
- hsa-mir-6856-3p (MIRT719446)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for NPTX2 - Select products 50% OFF >
- * NPTX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Sino Biological Human cDNA Clone for NPTX2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NPTX2
- genomics-online: cdna clones - Search results for available NPTX2 gene related products
- orf clones - Search results for available NPTX2 gene related products
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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Actin filaments (2)
- Centrosome (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0098978 | glutamatergic synapse | IMP | 27986928 |
Pathways & Interactions for NPTX2 Gene
Interacting Proteins for NPTX2 Gene
GPS-Prot Interaction Network for NPTX2
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for NPTX2 Gene
Drugs & Compounds for NPTX2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Approved | Nutra | 7884 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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 :
-
- ENST00000265634 2713 bps (ENST00000265634.4)
- ENST00000466102 843 bps (ENST00000466102.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NPTX2 - Select products 50% OFF >
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-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NPTX2
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-
Santa Cruz Biotechnology (SCBT) CRISPR for NPTX2
miRNA Products
Inhibitory RNA Products
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Clone Products
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- * NPTX2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NPTX2
- genomics-online: cdna clones - Search results for available NPTX2 gene related products
- orf clones - Search results for available NPTX2 gene related products
Relevant External Links for NPTX2 Gene
- GeneLoc Exon Structure for
- NPTX2
Expression for NPTX2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Bone (Muscoskeletal System)
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
- Seminiferous Tubules
- Cartilage (Muscoskeletal System)
-
Gonad
- XY Germ Cells Testis Cord
- Neural Crest (Gastrulation Derivatives)
- Neurons
- Neural Tube (Nervous System)
-
Adrenal Gland (Endocrine System)
-
Pancreas (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for NPTX2 Gene
This gene is overexpressed in Pituitary (x10.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPTX2
SOURCE GeneReport for Unigene cluster for NPTX2 Gene:
Hs.3281mRNA 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(2.2)
Primer Products
-
OriGene qPCR primer pairs for NPTX2
-
OriGene qPCR primer pairs and template standards for NPTX2
- genomics-online: primer clones - Search results for available NPTX2 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NPTX2 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NPTX2 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NPTX2 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nptx2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nptx2 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NPTX2 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NPTX2 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NPTX2 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NPTX2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nptx2 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nptx2a 31 30 |
|
OneToMany | |
| nptx2b 31 |
|
OneToMany | |||
| Dr.18755 30 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NPTX2: view image
Paralogs for NPTX2 Gene
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 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| narcolepsy |
|
|
| kearns-sayre syndrome |
|
|
| diabetes insipidus |
|
|
| pearson marrow-pancreas syndrome |
|
|
| diabetes insipidus, neurohypophyseal |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for NPTX2 Gene
Publications for NPTX2 Gene
- Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization. (PMID: 8530029) Hsu YC … Perin MS (Genomics 1995) 2 3 4 23 54
- 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 54
- 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 54
- 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 54
- 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 54
ExternalLinks
Products for NPTX2 Gene
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- antibodies-online: Show 21 available NPTX2 Antibodies ranked by validation data
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- Search for NPTX2 Proteins at Signalway
Sources for NPTX2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
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