Details for Gene ATP2B2

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

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