• Gene id: 5148

Gene Summary

• Gene Symbol: PDE6G   Gene   UCSC   Ensembl
• Aliases: PDEG, RP57
• Gene name: phosphodiesterase 6G
• Alternate names: retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma, GMP-PDE gamma, phosphodiesterase 6G, cGMP-specific, rod, gamma, rod cG-PDE G,
• Gene location: 17q25.3 (81663126: 81650458)     Exons: 6     NC_000017.11
• Gene summary(Entrez): This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction
• OMIM: 614316

Protein Summary

• Protein general information: P18545  
  • Name: Retinal rod rhodopsin sensitive cGMP 3',5' cyclic phosphodiesterase subunit gamma (GMP PDE gamma) (EC 3.1.4.35)
  • Length: 87  
  • Mass: 9643
• Sequence:

  MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPKKGVQGFGDDIPGMEGLGTDITVICPWEAFNH
  LELHELAQYGII

• Structural information:
  • Interpro: IPR006952  IPR037030  
  • PDB: 3JWR
  • PDBsum: 3JWR
  • STRING: ENSP00000328412
• Other Databases: GeneCards:  PDE6G  Malacards:  PDE6G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000187	activation of MAPK activity	IBA	biological process
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IBA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0042622	photoreceptor outer segment membrane	IBA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA	molecular function
GO:0030553	cGMP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0004857	enzyme inhibitor activity	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0047555	3',5'-cyclic-GMP phosphodiesterase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0016056	rhodopsin mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IEA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0030507	spectrin binding	IEA	molecular function
GO:0043086	negative regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04744	Phototransduction

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881