Protein-coding gene in the species Homo sapiens
NPTX2 |
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Identifiers |
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Aliases | NPTX2, NARP, NP-II, NP2, neuronal pentraxin 2 |
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External IDs | OMIM: 600750; MGI: 1858209; HomoloGene: 1892; GeneCards: NPTX2; OMA:NPTX2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 7 (human)[1] |
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| Band | 7q22.1 | Start | 98,617,285 bp[1] |
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End | 98,629,869 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5 G2|5 84.58 cM | Start | 144,482,712 bp[2] |
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End | 144,494,288 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - beta cell
- anterior pituitary
- orbitofrontal cortex
- Brodmann area 46
- lateral nuclear group of thalamus
- postcentral gyrus
- prefrontal cortex
- right testis
- Brodmann area 10
- Descending thoracic aorta
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| Top expressed in | - lumbar spinal ganglion
- superior frontal gyrus
- primary visual cortex
- primary oocyte
- secondary oocyte
- prefrontal cortex
- neural layer of retina
- zygote
- habenula
- epiblast
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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Molecular function | - metal ion binding
- carbohydrate binding
- molecular function
| Cellular component | - extracellular region
- cellular component
- plasma membrane
- cytoplasmic side of plasma membrane
- filopodium
- dendrite
- growth cone
- neuronal cell body
- glutamatergic synapse
| Biological process | - associative learning
- chemical synaptic transmission
- neuron projection development
- regulation of postsynaptic neurotransmitter receptor activity
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 7: 98.62 – 98.63 Mb | Chr 5: 144.48 – 144.49 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Neuronal pentraxin-2 is a protein that in humans is encoded by the NPTX2 gene.[5][6]
Function
This gene encodes a member of the family of neuronal pentraxins, 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.[6]
Clinical significance
Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000106236 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059991 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Hsu YC, Perin MS (Feb 1996). "Human neuronal pentraxin II (NPTX2): conservation, genomic structure, and chromosomal localization". Genomics. 28 (2): 220–7. doi:10.1006/geno.1995.1134. PMID 8530029.
- ^ a b "Entrez Gene: NPTX2 neuronal pentraxin II".
Further reading
- Park JK, Ryu JK, Lee KH, et al. (2007). "Quantitative analysis of NPTX2 hypermethylation is a promising molecular diagnostic marker for pancreatic cancer". Pancreas. 35 (3): e9–15. doi:10.1097/MPA.0b013e318153fa42. PMID 17895837. S2CID 31006962.
- Marui T, Koishi S, Funatogawa I, et al. (2007). "No association between the neuronal pentraxin II gene polymorphism and autism". Prog. Neuropsychopharmacol. Biol. Psychiatry. 31 (4): 940–3. doi:10.1016/j.pnpbp.2007.02.016. PMID 17408830. S2CID 23877321.
- Poulsen TT, Pedersen N, Perin MS, et al. (2006). "Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin". Lung Cancer. 50 (3): 329–37. doi:10.1016/j.lungcan.2005.06.011. PMID 16115696.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
- Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kirkpatrick LL, Matzuk MM, Dodds DC, Perin MS (2000). "Biochemical interactions of the neuronal pentraxins. Neuronal pentraxin (NP) receptor binds to taipoxin and taipoxin-associated calcium-binding protein 49 via NP1 and NP2". J. Biol. Chem. 275 (23): 17786–92. doi:10.1074/jbc.M002254200. PMID 10748068.
- Dodds DC, Omeis IA, Cushman SJ, et al. (1997). "Neuronal pentraxin receptor, a novel putative integral membrane pentraxin that interacts with neuronal pentraxin 1 and 2 and taipoxin-associated calcium-binding protein 49". J. Biol. Chem. 272 (34): 21488–94. doi:10.1074/jbc.272.34.21488. PMID 9261167.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.