KIRREL3

类IRRE3系属(果蝇)
(Kin of IRRE like 3)
类IRRE3系属(果蝇); (Kin of IRRE like 3)
有效结构
PDB	直系同源检索：PDBe, RCSB
PDB查询代码列表
	2CRY
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
基因本体论描述
分子功能	· protein binding;
细胞成分	· extracellular region; · plasma membrane; · integral to membrane; · axon; · dendritic shaft;
生物过程	· neuron migration; · principal sensory nucleus of trigeminal nerve development; · hemopoiesis;
	Sources: Amigo / QuickGO
直系同源体
物种	人类
Entrez	84623
Ensembl	ENSG00000149571
UniProt	Q8IZU9
mRNA序列	NM_001161707
蛋白序列	NP_001155179
基因位置	Chr 11:; 126.29 – 126.87 Mb
PubMed查询	[1]
	查; 论; 编;

KIRREL（Kin of IRRE-like protein 3、类IRRE蛋白3系属、不规则类视交叉蛋白3系属（kin of irregular chiasm-like protein 3）、类肾蛋白2（NEPH2））是一种由KIRREL3基因所编码的人类蛋白质。^[1]

NEPH2是类跨膜蛋白肾病蛋白之蛋白质家族的成员，它包括NEPH1（KIRREL）及NEPH3（KIRREL2（英语：KIRREL2））。所述之类肾病蛋白之蛋白质可与肾病蛋白及CASK（英语：CASK）进行蛋白质交互作用。

功能

NEPH2牵涉突触的形成。^[2] KIRREL3基因功能的破坏和脑功能异常有关。^[3]

NEPH1及NEPH2都参与了肾脏血液过滤(Ultrafiltration (renal))的功能，且位于滤过裂隙中。^[4]

注释

^ Entrez Gene: kin of IRRE like 3 (Drosophila).
^ Peter Gerke, Thomas Benzing, Martin Höhne, Andreas Kispert, Michael Frotscher, Gerd Walz, Oliver Kretz. Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis. 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. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. 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. A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis. 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）.

延伸阅读

Davila S; Froeling FE; Tan A; et al. New genetic associations detected in a host response study to hepatitis B vaccine.. 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. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.. 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.. Mol. Med.: 247–53. PMC 2896464  . PMID 20379614. doi:10.2119/molmed.2009.00159.
Eriksson N; Macpherson JM; Tung JY; et al. Web-based, participant-driven studies yield novel genetic associations for common traits.. PLoS Genet. 2010, 6 (6): e1000993. PMC 2891811  . PMID 20585627. doi:10.1371/journal.pgen.1000993.
Bonaldo MF, Lennon G, Soares MB. Normalization and subtraction: two approaches to facilitate gene discovery.. Genome Res. 1996, 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791.
Clark HF; Gurney AL; Abaya E; et al. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.. Genome Res. 2003, 13 (10): 2265–70. PMC 403697  . PMID 12975309. doi:10.1101/gr.1293003.
Sellin L; Huber TB; Gerke P; et al. NEPH1 defines a novel family of podocin interacting proteins.. FASEB J. 2003, 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje.
Adkins DE; Aberg K; McClay JL; et al. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.. Mol. Psychiatry. 2011, 16 (3): 321–32. PMC 2891163  . PMID 20195266. doi:10.1038/mp.2010.14.

[entrez-1] Entrez Gene: kin of IRRE like 3 (Drosophila).

[2] Peter Gerke, Thomas Benzing, Martin Höhne, Andreas Kispert, Michael Frotscher, Gerd Walz, Oliver Kretz. Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis. 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）.

[3] 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. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. 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）.

[4] 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. A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis. 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）.

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