호모 사피엔스 종의 단백질 코드 유전자
디스크대관련단백질2 는 DLGAP2유전자 에 [5] [6] [7] 단백질 이다.
기능. 이 유전자의 산물은 신경세포에서 시냅스 후 밀도로 국소화된 막 관련 구아닐산 키나아제 중 하나이다. 이러한 키나아제들은 다양한 막하 도메인에서 발현되는 시그널링 분자의 계열이며 PDZ, SH3 및 구아닐산 키나아제 도메인을 포함한다. 이 단백질은 시냅스의 분자 구성과 신경 세포 신호 전달에 역할을 할 수 있습니다. 다른 Isoform을 코드하는 대체 스플라이스된 전사 변종이 확인되었지만,[7]
상호 작용 DLGAP2는 N-Methyl-d-aspartate(NMDA) 수용체와 셰이커형 K+ [8] DLG4 와 상호작용하는 것 으로 나타났다.
임상적 의의 결합 파트너 Shank2를 포함한 많은 다른 시냅스 유전자와 마찬가지로 DLGAP2는 [9]
레퍼런스 ^ a b c ENSG00000282152, ENSG00000282318, ENSG00000198010, ENSG00000282103 GRCh38: Ensembl 릴리스 89: ENSG00000274161, ENSG000282152, ENSG00000282318, ENSG00000000000000000000000010, ENSG^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000047495 - 앙상블 , 2017년 5월^ "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 .^ Satoh K, Yanai H, Senda T, Kohu K, Nakamura T, Okumura N, Matsumine A, Kobayashi S, Toyoshima K, Akiyama T (Oct 1997). "DAP-1, a novel protein that interacts with the guanylate kinase-like domains of hDLG and PSD-95" . Genes Cells . 2 (6): 415–24. doi :10.1046/j.1365-2443.1997.1310329.x PMID 9286858 . S2CID 8934092 . ^ Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Sep 2000). "Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation" . Eur J Hum Genet . 8 (5): 381–4. doi :10.1038/sj.ejhg.5200440 PMID 10854099 . ^ a b "Entrez Gene: DLGAP2 discs, large (Drosophila) homolog-associated protein 2" .^ Takeuchi M, Hata Y, Hirao K, Toyoda A, Irie M, Takai Y (1997). "SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density" . J. Biol. Chem . 272 (18): 11943–51. doi :10.1074/jbc.272.18.11943 PMID 9115257 . ^ Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. (2010). "Functional impact of global rare copy number variation in autism spectrum disorders" . Nature . 466 (7304): 368–72. doi :10.1038/nature09146 . PMC 3021798 PMID 20531469 .
추가 정보 Takeuchi M, Hata Y, Hirao K, et al. (1997). "SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density" . J. Biol. Chem . 272 (18): 11943–51. doi :10.1074/jbc.272.18.11943 PMID 9115257 . Naisbitt S, Kim E, Weinberg RJ, et al. (1997). "Characterization of guanylate kinase-associated protein, a postsynaptic density protein at excitatory synapses that interacts directly with postsynaptic density-95/synapse-associated protein 90" . J. Neurosci . 17 (15): 5687–96. doi :10.1523/JNEUROSCI.17-15-05687.1997 PMC 6573205 PMID 9221768 . Ranta S, Lehesjoki AE, de Fatima Bonaldo M, et al. (1997). "High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p" . Genome Res . 7 (9): 887–96. doi :10.1101/gr.7.9.887 PMID 9314494 . Hirao K, Hata Y, Ide N, et al. (1998). "A novel multiple PDZ domain-containing molecule interacting with N-methyl-D-aspartate receptors and neuronal cell adhesion proteins" . J. Biol. Chem . 273 (33): 21105–10. doi :10.1074/jbc.273.33.21105 PMID 9694864 . Kawabe H, Hata Y, Takeuchi M, et al. (1999). "nArgBP2, a novel neural member of ponsin/ArgBP2/vinexin family that interacts with synapse-associated protein 90/postsynaptic density-95-associated protein (SAPAP)" . J. Biol. Chem . 274 (43): 30914–8. doi :10.1074/jbc.274.43.30914 PMID 10521485 . Hirao K, Hata Y, Deguchi M, et al. (2000). "Association of synapse-associated protein 90/ postsynaptic density-95-associated protein (SAPAP) with neurofilaments" . Genes Cells . 5 (3): 203–10. doi :10.1046/j.1365-2443.2000.00318.x PMID 10759891 . S2CID 2712385 . Wang P, Zhang Q, Tochio H, et al. (2000). "Formation of a native-like beta-hairpin finger structure of a peptide from the extended PDZ domain of neuronal nitric oxide synthase in aqueous solution" . Eur. J. Biochem . 267 (11): 3116–22. doi :10.1046/j.1432-1327.2000.01318.x PMID 10824095 . Bolliger MF, Frei K, Winterhalter KH, Gloor SM (2001). "Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression" . Biochem. J . 356 (Pt 2): 581–8. doi :10.1042/0264-6021:3560581 . PMC 1221872 PMID 11368788 . Hu LA, Chen W, Premont RT, et al. (2002). "G protein-coupled receptor kinase 5 regulates beta 1-adrenergic receptor association with PSD-95" . J. Biol. Chem . 277 (2): 1607–13. doi :10.1074/jbc.M107297200 PMID 11700307 . Ohtakara K, Nishizawa M, Izawa I, et al. (2003). "Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1" . Genes Cells . 7 (11): 1149–60. doi :10.1046/j.1365-2443.2002.00589.x PMID 12390249 . S2CID 17177670 . Verhoeven K, De Jonghe P, Van de Putte T, et al. (2003). "Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10" . Am. J. Hum. Genet . 73 (4): 926–32. doi :10.1086/378159 . PMC 1180612 PMID 14508709 . Ying Z, Bingaman W, Najm IM (2004). "Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia". Epilepsia . 45 (4): 314–21. doi :10.1111/j.0013-9580.2004.37703.x . PMID 15030493 . S2CID 46018257 .
