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NEPH2 / KIRREL3
kin of IRRE like 3 (Drosophila)
NEPH2 / KIRREL3 is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
| Gene Name: | kin of IRRE like 3 (Drosophila) |
| Synonyms: | KIRREL3, KIAA1867, KIRRE, Nephrin-like protein 2, NEPH2, Kin of IRRE-like protein 3, MRD4, Nephrin-like 2, PRO4502 |
| Target Sequences: | Q8IZU9 Q8IZU9 |
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