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 |