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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 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]
NPTX2 (Neuronal Pentraxin 2) is a Protein Coding gene. Diseases associated with NPTX2 include Narcolepsy and Diabetes Insipidus. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is NPTX1.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0098978 | glutamatergic synapse | IMP | 27986928 |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NPTX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NPTX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NPTX2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nptx2 30 17 31 |
|
OneToOne | |
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 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NPTX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nptx2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nptx2a 30 31 |
|
OneToMany | |
nptx2b 31 |
|
OneToMany | |||
Dr.18755 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs148118941 | Likely Benign: not provided | 98,619,790(+) |
T/A NM_002523.3(NPTX2):c.574T>A (p.Ser192Thr) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
narcolepsy |
|
|
diabetes insipidus |
|
|
diabetes insipidus, neurohypophyseal |
|
|
frontotemporal dementia |
|
|
autism spectrum disorder |
|
|