NPTX2

Protein-coding gene in the species Homo sapiens
NPTX2
Identifiers
AliasesNPTX2, NARP, NP-II, NP2, neuronal pentraxin 2
External IDsOMIM: 600750; MGI: 1858209; HomoloGene: 1892; GeneCards: NPTX2; OMA:NPTX2 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for NPTX2
Genomic location for NPTX2
Band7q22.1Start98,617,285 bp[1]
End98,629,869 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for NPTX2
Genomic location for NPTX2
Band5 G2|5 84.58 cMStart144,482,712 bp[2]
End144,494,288 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
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
More reference expression data
BioGPS
More reference expression data
Gene ontology
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
Orthologs
SpeciesHumanMouse
Entrez

4885

53324

Ensembl

ENSG00000106236

ENSMUSG00000059991

UniProt

P47972

O70340

RefSeq (mRNA)

NM_002523

NM_016789

RefSeq (protein)

NP_002514

NP_058069

Location (UCSC)Chr 7: 98.62 – 98.63 MbChr 5: 144.48 – 144.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106236 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000059991 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.



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