Details for Gene PDE6B

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

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