GENE NAME | ATP2B3 |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000067842 |
ENTREZ ID | 492 |
UNIPROT ACCESSION NUMBER | Q16720 |
GO MOLECULAR FUNCTION | ATPase-coupled cation transmembrane transporter activity; PDZ domain binding; protein binding; P-type calcium transporter activity; ATP binding; nucleotide binding; calcium ion transmembrane transporter activity; calmodulin binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04978; R-HSA-418359; R-HSA-382551; R-HSA-109582; R-HSA-397014; R-HSA-936837; hsa04970; hsa04022; hsa04961; R-HSA-418346; hsa04972; R-HSA-418360; hsa04261; R-HSA-5576891; R-HSA-5578775; R-HSA-5576891; R-HSA-5578775; hsa04261; R-HSA-418360; hsa04972; hsa04961; R-HSA-418346; hsa04022; hsa04970; R-HSA-936837; R-HSA-109582; R-HSA-397014; hsa04024; hsa04925; hsa04020; R-HSA-382551; R-HSA-983712; hsa04978; R-HSA-418359; R-HSA-983712; hsa04020; hsa04024; hsa04925 |
2 combinations linked to ATP2B3 | OLI503; OLI118 |
2 variants linked to ATP2B3 | ATP2B3:c.1445G>A, p.Arg482His; ATP2B3:c.2197G>A, p.Gly733Arg |
1 disease linked to ATP2B3 | X-linked cerebellar ataxia |