KIRREL3

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External IDs	GeneCards: [1]
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	Wikidata
View/Edit Human

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]

References

↑ "Entrez Gene: kin of IRRE like 3 (Drosophila)".
↑ Gerke P, Benzing T, Höhne M, Kispert A, Frotscher M, Walz G, Kretz O (Oct 2006). "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. doi:10.1002/cne.21064. PMID 16874800.
↑ Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK (Dec 2008). "Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability". American Journal of Human Genetics. 83 (6): 703–13. doi:10.1016/j.ajhg.2008.10.020. PMC 2668064. PMID 19012874.
↑ 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 (Jun 2010). "A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis". Human Molecular Genetics. 19 (12): 2347–59. doi:10.1093/hmg/ddq108. PMID 20233749.

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Sellin L, Huber TB, Gerke P, Quack I, Pavenstädt H, Walz G (Jan 2003). "NEPH1 defines a novel family of podocin interacting proteins". FASEB Journal. 17 (1): 115–7. doi:10.1096/fj.02-0242fje. PMID 12424224.
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[entrez-1] "Entrez Gene: kin of IRRE like 3 (Drosophila)".

[2] Gerke P, Benzing T, Höhne M, Kispert A, Frotscher M, Walz G, Kretz O (Oct 2006). "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. doi:10.1002/cne.21064. PMID 16874800.

[3] Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK (Dec 2008). "Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability". American Journal of Human Genetics. 83 (6): 703–13. doi:10.1016/j.ajhg.2008.10.020. PMC 2668064. PMID 19012874.

[4] 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 (Jun 2010). "A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis". Human Molecular Genetics. 19 (12): 2347–59. doi:10.1093/hmg/ddq108. PMID 20233749.

[1]

[2]

[3]

[4]

KIRREL3

Function

References

Further reading

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