GENE NAME | ATP2B2 |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000157087 |
ENTREZ ID | 491 |
UNIPROT ACCESSION NUMBER | Q01814 |
GO MOLECULAR FUNCTION | ATPase-coupled cation transmembrane transporter activity; PDZ domain binding; P-type calcium transporter activity; ATP binding; glutamate receptor binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04261; R-HSA-418360; hsa04020; hsa04972; hsa04024; hsa04925; R-HSA-936837; hsa04970; hsa04022; R-HSA-109582; R-HSA-397014; hsa04961; R-HSA-418346; R-HSA-382551; hsa04978; R-HSA-418359; R-HSA-5576891; R-HSA-5578775; R-HSA-983712 |
1 combination linked to ATP2B2 | OLI497 |
1 variant linked to ATP2B2 | ATP2B2:c.1756G>A, p.Val586Met |
1 disease linked to ATP2B2 | Non-syndromic genetic deafness |