| GENE NAME | PKD2 |
| CHROMOSOME | 4 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000118762 |
| UNIPROT ACCESSION NUMBER | Q13563 |
| GO MOLECULAR FUNCTION | ['calcium-induced calcium release activity', 'actinin binding', 'cytoskeletal protein binding', 'muscle alpha-actinin binding', 'cation channel activity', 'phosphoprotein binding', 'potassium channel activity', 'voltage-gated sodium channel activity', 'identical protein binding', 'protein homodimerization activity', 'outward rectifier potassium channel activity', 'HLH domain binding', 'calcium ion binding', 'voltage-gated ion channel activity', 'voltage-gated cation channel activity', 'signaling receptor binding', 'voltage-gated potassium channel activity', 'voltage-gated calcium channel activity', 'protein binding', 'ATPase binding', 'transmembrane transporter binding', 'calcium channel activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620916; R-HSA-5620920 |
| 4 combinations linked to PKD2 | OLI1705; OLI148; OLI326; OLI327 |
| 4 variants linked to PKD2 | PKD2:c.715_718dupTACG, p.Gly240fs; PKD2:c.991_992delTGinsAC, p.Cys331Thr; PKD2:p.Arg872Gly; PKD2:c.2614C>T, p.Arg872Ter |
| 1 disease linked to PKD2 | Autosomal dominant polycystic kidney disease |