| GENE NAME | ATP7B |
| CHROMOSOME | 13 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000123191 |
| UNIPROT ACCESSION NUMBER | P35670 |
| GO MOLECULAR FUNCTION | ['P-type monovalent copper transporter activity', 'copper ion transmembrane transporter activity', 'P-type divalent copper transporter activity', 'ATP binding', 'copper ion binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa01524; hsa04978; hsa01524; hsa04978; hsa01524; hsa04978; R-HSA-382551; R-HSA-936837; R-HSA-983712 |
| 3 combinations linked to ATP7B | OLI1246; OLI1562; OLI1480 |
| 3 variants linked to ATP7B | ATP7B:c.3207C>A, p.His1069Gln; ATP7B:c.2333G>T, p.Arg778Leu; ATP7B:c.4301C>T, p.Thr1434Met |
| 5 diseases linked to ATP7B | Progressive non-fluent aphasia; Syndrome with 46,XY disorder of sex development; Corticobasal syndrome; Duchenne muscular dystrophy; Wilson disease |