Details for Gene SLC8A3

GENE NAME SLC8A3
CHROMOSOME 14
ENSEMBL ID None
ENTREZ ID ENSG00000100678
UNIPROT ACCESSION NUMBER P57103
GO MOLECULAR FUNCTION ['calmodulin binding', 'cation:cation antiporter activity', 'ion antiporter activity involved in regulation of postsynaptic membrane potential', 'calcium:sodium antiporter activity', 'metal ion binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04020; hsa04022; hsa04260; hsa04261; hsa04371; hsa04740; hsa04961; hsa04974; hsa04978; hsa05410; hsa05412; hsa05414; R-HSA-109582; R-HSA-382551; R-HSA-397014; R-HSA-418346; R-HSA-418359; R-HSA-418360; R-HSA-425393; R-HSA-425407; R-HSA-425561; R-HSA-5576891; R-HSA-5578775; R-HSA-8949215
1 combination linked to SLC8A3 OLI1675
1 variant linked to SLC8A3 SLC8A3:c.56T>C, p.Val19Ala
1 disease linked to SLC8A3 Non-Syndromic genetic keratoconus

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