KIRREL3 explained
Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or NEPH2 is a protein that in humans is encoded by the KIRREL3 gene.[1]
NEPH2 is a member of the NEPH protein family of transmembrane proteins, which includes NEPH1 (KIRREL) and NEPH3 (KIRREL2). The NEPH proteins can interact with nephrin and CASK.
Function
NEPH2 has been implicated in synapse formation.[2] Disruption of KIRREL3 gene function had been associated with abnormal brain function.[3]
NEPH1 and NEPH2 are involved in the blood filtration function of the kidney and are located in the slit diaphragm.[4]
Further reading
- Davila S, Froeling FE, Tan A, Bonnard C, Boland GJ, Snippe H, Hibberd ML, Seielstad M . New genetic associations detected in a host response study to hepatitis B vaccine . Genes and Immunity . 11 . 3 . 232–8 . Apr 2010 . 20237496 . 10.1038/gene.2010.1 . free .
- Anney RJ, Lasky-Su J, O'Dúshláine C, Kenny E, Neale BM, Mulligan A, Franke B, Zhou K, Chen W, Christiansen H, Arias-Vásquez A, Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen H, Asherson P, Faraone SV, Gill M . Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study . American Journal of Medical Genetics Part B . 147B . 8 . 1369–78 . Dec 2008 . 18951430 . 10.1002/ajmg.b.30871 . 30325260 .
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR . Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . Molecular Medicine . 16 . 7–8 . 247–53 . 20379614 . 2896464 . 10.2119/molmed.2009.00159 . 2010 .
- Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J . Web-based, participant-driven studies yield novel genetic associations for common traits . PLOS Genetics . 6 . 6 . e1000993 . Jun 2010 . 20585627 . 2891811 . 10.1371/journal.pgen.1000993 . free .
- Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . Sep 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
- Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment . Genome Research . 13 . 10 . 2265–70 . Oct 2003 . 12975309 . 403697 . 10.1101/gr.1293003 .
- Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G . NEPH1 defines a novel family of podocin interacting proteins . FASEB Journal . 17 . 1 . 115–7 . Jan 2003 . 12424224 . 10.1096/fj.02-0242fje . free . 17732086 .
- Adkins DE, Aberg K, McClay JL, Bukszár J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF, van den Oord EJ . Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs . Molecular Psychiatry . 16 . 3 . 321–32 . Mar 2011 . 20195266 . 2891163 . 10.1038/mp.2010.14 .
Notes and References
- Web site: Entrez Gene: kin of IRRE like 3 (Drosophila).
- Gerke P, Benzing T, Höhne M, Kispert A, Frotscher M, Walz G, Kretz O . Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis . The Journal of Comparative Neurology . 498 . 4 . 466–75 . Oct 2006 . 16874800 . 10.1002/cne.21064 . 16564474 .
- Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK . Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability . American Journal of Human Genetics . 83 . 6 . 703–13 . Dec 2008 . 19012874 . 2668064 . 10.1016/j.ajhg.2008.10.020 .
- Neumann-Haefelin E, Kramer-Zucker A, Slanchev K, Hartleben B, Noutsou F, Martin K, Wanner N, Ritter A, Gödel M, Pagel P, Fu X, Müller A, Baumeister R, Walz G, Huber TB . A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis . Human Molecular Genetics . 19 . 12 . 2347–59 . Jun 2010 . 20233749 . 10.1093/hmg/ddq108 . free .