KIRREL3
KIRREL（、類IRRE蛋白3系屬、不規則類視交叉蛋白3系屬（kin of irregular chiasm-like protein 3）、類腎蛋白2（NEPH2））是一種由KIRREL3基因所編碼的人類蛋白質。[1]
| 類IRRE3系屬(果蠅) (Kin of IRRE like 3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| 标识 | |||||||||||||
| 代号 | KIRREL3; KIRRE; MRD4; NEPH2; PRO4502 | ||||||||||||
| 扩展标识 | 遗传学：607761 鼠基因：1914953 同源基因：57050 GeneCards: KIRREL3 Gene | ||||||||||||
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| 直系同源体 | |||||||||||||
| 物种 | 人类 | 小鼠 | |||||||||||
| Entrez | 84623 | 67703 | |||||||||||
| Ensembl | ENSG00000149571 | ENSMUSG00000032036 | |||||||||||
| UniProt | Q8IZU9 | Q8BR86 | |||||||||||
| mRNA序列 | NM_001161707 | NM_001190911 | |||||||||||
| 蛋白序列 | NP_001155179 | NP_001177840 | |||||||||||
| 基因位置 |
Chr 11: 126.29 – 126.87 Mb |
Chr 9: 34.49 – 35.04 Mb | |||||||||||
| PubMed查询 | |||||||||||||
NEPH2是類跨膜蛋白腎病蛋白之蛋白質家族的成員，它包括NEPH1（KIRREL）及NEPH3（KIRREL2）。所述之類腎病蛋白之蛋白質可與腎病蛋白及CASK進行蛋白質交互作用。
功能
NEPH2牽涉突觸的形成。[2] KIRREL3基因功能的破壞和腦功能異常有關。[3]
NEPH1及NEPH2都參與了腎臟血液過濾(Ultrafiltration (renal))的功能，且位於濾過裂隙中。[4]
註釋
- .
- Peter Gerke, Thomas Benzing, Martin Höhne, Andreas Kispert, Michael Frotscher, Gerd Walz, Oliver Kretz. . The Journal of Comparative Neurology. 2006-10-01, 498 (4): 466–475 [2019-02-12]. ISSN 0021-9967. PMID 16874800. doi:10.1002/cne.21064. （原始内容存档于2020-03-02）.
- Kavita Bhalla, Yue Luo, Tim Buchan, Michael A. Beachem, Gregory F. Guzauskas, Sydney Ladd, Shelly J. Bratcher, Richard J. Schroer, Janne Balsamo, Barbara R. DuPont, Jack Lilien, Anand K. Srivastava. . American Journal of Human Genetics. 2008-12, 83 (6): 703–713 [2019-02-12]. ISSN 1537-6605. PMC 2668064
. PMID 19012874. doi:10.1016/j.ajhg.2008.10.020. （原始内容存档于2015-07-04）. - Elke Neumann-Haefelin, Albrecht Kramer-Zucker, Krasimir Slanchev, Björn Hartleben, Foteini Noutsou, Katrin Martin, Nicola Wanner, Alexander Ritter, Markus Gödel, Philip Pagel, Xiao Fu, Alexandra Müller, Ralf Baumeister, Gerd Walz, Tobias B. Huber. . Human Molecular Genetics. 2010-06-15, 19 (12): 2347–2359 [2019-02-12]. ISSN 1460-2083. PMID 20233749. doi:10.1093/hmg/ddq108. （原始内容存档于2019-07-28）.
延伸閱讀
- Davila S; Froeling FE; Tan A; et al. . Genes Immun. 2010, 11 (3): 232–8. PMID 20237496. doi:10.1038/gene.2010.1.
- Anney RJ; Lasky-Su J; O'Dúshláine C; et al. . Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008, 147B (8): 1369–78. PMID 18951430. doi:10.1002/ajmg.b.30871.
- Rose JE; Behm FM; Drgon T; et al. . Mol. Med.: 247–53. PMC 2896464 . PMID 20379614. doi:10.2119/molmed.2009.00159.
- Eriksson N; Macpherson JM; Tung JY; et al. . PLoS Genet. 2010, 6 (6): e1000993. PMC 2891811 . PMID 20585627. doi:10.1371/journal.pgen.1000993.
- Bonaldo MF, Lennon G, Soares MB. . Genome Res. 1996, 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791.
- Clark HF; Gurney AL; Abaya E; et al. . Genome Res. 2003, 13 (10): 2265–70. PMC 403697 . PMID 12975309. doi:10.1101/gr.1293003.
- Sellin L; Huber TB; Gerke P; et al. . FASEB J. 2003, 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje.
- Adkins DE; Aberg K; McClay JL; et al. . Mol. Psychiatry. 2011, 16 (3): 321–32. PMC 2891163 . PMID 20195266. doi:10.1038/mp.2010.14.
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