NRXN3

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Neurexin 3
Identifiers
Symbols NRXN3 ; C14orf60
External IDs OMIM600567 MGI1096389 HomoloGene88711 GeneCards: NRXN3 Gene
RNA expression pattern
PBB GE NRXN3 205795 at tn.png
PBB GE NRXN3 215021 s at tn.png
PBB GE NRXN3 215020 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9369 18191
Ensembl ENSG00000021645 ENSMUSG00000066392
UniProt Q9HDB5 n/a
RefSeq (mRNA) NM_001105250 NM_172544
RefSeq (protein) NP_001098720 NP_766132
Location (UCSC) Chr 14:
78.71 – 80.33 Mb
Chr 12:
89.31 – 90.74 Mb
PubMed search [1] [2]

Neurexin-3-alpha is a protein that in humans is encoded by the NRXN3 gene.[1][2][3]

Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins.[3] NRXN3 is thought to be involved in synaptic plasticity, and polymorphisms in NRXN3 have been linked to genetic predisposition towards a number of conditions such as alcohol or drug addiction,[4][5][6] or obesity.[7]

References[edit]

  1. ^ Rowen L, Young J, Birditt B, Kaur A, Madan A, Philipps DL, Qin S, Minx P, Wilson RK, Hood L, Graveley BR (Apr 2002). "Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity". Genomics 79 (4): 587–97. doi:10.1006/geno.2002.6734. PMID 11944992. 
  2. ^ Occhi G, Rampazzo A, Beffagna G, Antonio Danieli G (Oct 2002). "Identification and characterization of heart-specific splicing of human neurexin 3 mRNA (NRXN3)". Biochem Biophys Res Commun 298 (1): 151–5. doi:10.1016/S0006-291X(02)02403-8. PMID 12379233. 
  3. ^ a b "Entrez Gene: NRXN3 neurexin 3". 
  4. ^ Lachman HM, Fann CS, Bartzis M, Evgrafov OV, Rosenthal RN, Nunes EV, Miner C, Santana M, Gaffney J, Riddick A, Hsu CL, Knowles JA (June 2007). "Genomewide suggestive linkage of opioid dependence to chromosome 14q". Human Molecular Genetics 16 (11): 1327–34. doi:10.1093/hmg/ddm081. PMID 17409192. 
  5. ^ Hishimoto A, Liu QR, Drgon T, Pletnikova O, Walther D, Zhu XG, Troncoso JC, Uhl GR (December 2007). "Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms". Human Molecular Genetics 16 (23): 2880–91. doi:10.1093/hmg/ddm247. PMID 17804423. 
  6. ^ Kelai S, Maussion G, Noble F, Boni C, Ramoz N, Moalic JM, Peuchmaur M, Gorwood P, Simonneau M (May 2008). "Nrxn3 upregulation in the globus pallidus of mice developing cocaine addiction". Neuroreport 19 (7): 751–5. doi:10.1097/WNR.0b013e3282fda231. PMID 18418251. 
  7. ^ Heard-Costa NL, Zillikens MC, Monda KL, Johansson A, Harris TB, Fu M, Haritunians T, Feitosa MF, Aspelund T, Eiriksdottir G, Garcia M, Launer LJ, Smith AV, Mitchell BD, McArdle PF, Shuldiner AR, Bielinski SJ, Boerwinkle E, Brancati F, Demerath EW, Pankow JS, Arnold AM, Chen YD, Glazer NL, McKnight B, Psaty BM, Rotter JI, Amin N, Campbell H, Gyllensten U, Pattaro C, Pramstaller PP, Rudan I, Struchalin M, Vitart V, Gao X, Kraja A, Province MA, Zhang Q, Atwood LD, Dupuis J, Hirschhorn JN, Jaquish CE, O'Donnell CJ, Vasan RS, White CC, Aulchenko YS, Estrada K, Hofman A, Rivadeneira F, Uitterlinden AG, Witteman JC, Oostra BA, Kaplan RC, Gudnason V, O'Connell JR, Borecki IB, van Duijn CM, Cupples LA, Fox CS, North KE (June 2009). "NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium". In Dermitzakis, Emmanouil T. PLoS Genetics 5 (6): e1000539. doi:10.1371/journal.pgen.1000539. PMC 2695005. PMID 19557197. 

Further reading[edit]