| Entrez Gene ID | 4885 |
|---|---|
| Official Gene Symbol | NPTX2 (GeneCards) |
| Full name | neuronal pentraxin 2 |
| Location | 7q22.1 |
| Other ids | Vega : OTTHUMG00000154369 MIM : 600750 HGNC : HGNC:7953 Ensembl : ENSG00000106236 |
| Other names | 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] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10569 | 4885 | NPTX2 | 7 | 98382802 | 98382802 | Asymptomatic | HiSeq X Ten |
| 11174 | 4885 | NPTX2 | 7 | 98390465 | 98390465 | Asymptomatic | HiSeq X Ten |
| 11295 | 4885 | NPTX2 | 7 | 98442826 | 98442826 | Asymptomatic | HiSeq X Ten |
| 11313 | 4885 | NPTX2 | 7 | 98275942 | 98275942 | Asymptomatic | HiSeq X Ten |
| 26397 | 4885 | NPTX2 | 7 | 98268485 | 98268485 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29807 | 4885 | NPTX2 | 7 | 98256629 | 98256629 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |