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The protein encoded by this gene 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. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Kin of IRRE-like protein 3; Kin of irregular chiasm-like protein 3; membrane protein mKirre; mKirre; nephrin-like 2; Nephrin-like protein 2; X kin of IRRE like 3
基因别名: 1500010O20Rik; 2900036G11Rik; KIAA1867; KIRRE; KIRREL3; mKIAA1867; MRD4; NEPH2; PRO4502; SST4; UNQ5923/PRO4502/PRO19814
UniProt ID: (Human) Q8IZU9, (Mouse) Q8BR86
Entrez Gene ID: (Human) 84623, (Mouse) 67703, (Rat) 315546