GENE NAME | PDE6B |
CHROMOSOME | 4 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000133256 |
UNIPROT ACCESSION NUMBER | P35913 |
GO MOLECULAR FUNCTION | ["3',5'-cyclic-GMP phosphodiesterase activity", "3',5'-cyclic-nucleotide phosphodiesterase activity", 'metal ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa00230; hsa01100; hsa04744; R-HSA-162582; R-HSA-195721; R-HSA-2187338; R-HSA-2485179; R-HSA-2514856; R-HSA-2514859; R-HSA-372790; R-HSA-3858494; R-HSA-388396; R-HSA-4086398; R-HSA-418594 |
3 combinations linked to PDE6B | OLI1453; OLI1450; OLI1444 |
3 variants linked to PDE6B | PDE6B:c.1798G>A, p.Asp600Asn; PDE6B:c.292C>T, p.Arg98Cys; PDE6B:c.1055G>T, p.Gly352Val |
1 disease linked to PDE6B | Bardet-Biedl syndrome |