PDE6G (phosphodiesterase 6G)

Gene

• Entrez ID: 5148
• Gene name: Phosphodiesterase 6G
• Gene symbol: PDE6G
• Synonyms (NCBI Gene): PDEG, RP57
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1598717056	C>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018578	hsa-miR-335-5p	Microarray	18185580
MIRT2063730	hsa-miR-1200	CLIP-seq
MIRT2063731	hsa-miR-1303	CLIP-seq
MIRT2063732	hsa-miR-2278	CLIP-seq
MIRT2063733	hsa-miR-378	CLIP-seq
MIRT2063734	hsa-miR-378b	CLIP-seq
MIRT2063735	hsa-miR-378c	CLIP-seq
MIRT2063736	hsa-miR-378d	CLIP-seq
MIRT2063737	hsa-miR-378e	CLIP-seq
MIRT2063738	hsa-miR-378f	CLIP-seq
MIRT2063739	hsa-miR-378h	CLIP-seq
MIRT2063740	hsa-miR-378i	CLIP-seq
MIRT2063741	hsa-miR-422a	CLIP-seq
MIRT2063742	hsa-miR-4324	CLIP-seq
MIRT2063743	hsa-miR-4459	CLIP-seq
MIRT2063744	hsa-miR-4468	CLIP-seq
MIRT2063745	hsa-miR-4779	CLIP-seq
MIRT2063746	hsa-miR-544b	CLIP-seq
MIRT2063747	hsa-miR-629	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004857	Function	Enzyme inhibitor activity	TAS	7828894
GO:0005515	Function	Protein binding	IPI	16357825, 25416956, 32296183, 32814053
GO:0005886	Component	Plasma membrane	TAS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	7828894
GO:0016787	Function	Hydrolase activity	IEA
GO:0030507	Function	Spectrin binding	IEA
GO:0030553	Function	CGMP binding	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IBA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 180073
• HGNC: 8789
• e!Ensembl: ENSG00000185527

Protein

• UniProt ID: P18545
• Protein name: Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.1.4.35)
• Protein function: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
• PDB: 3JWR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04868	PDE6_gamma	5 → 87	Retinal cGMP phosphodiesterase, gamma subunit	Family

• Sequence:

  MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPKKGVQGFGDDIPGMEGL
  GTDITVICPWEAFNHLELHELAQYGII

• Sequence length: 87

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Phototransduction

Reactome:

Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
Ca2+ pathway

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Retinitis pigmentosa	Pathogenic	rs1598717056	RCV001003119
Retinitis pigmentosa 57	Pathogenic	rs1598717056	RCV000013981

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Melanoma	Likely benign	rs764442587	RCV005928368
Retinal dystrophy	Uncertain significance; Benign; Likely benign	rs766951952, rs2509807318, rs1283123496, rs2509807363, rs117011954, rs776737209	RCV003888957 RCV003890364 RCV003890365 RCV003890366 RCV003890034 RCV001074964
Retinitis Pigmentosa, Recessive	Likely benign; Uncertain significance	rs58894371, rs56125934, rs781480768	RCV000378202 RCV000309615 RCV000390472

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Juvenile	Associate	35967305
Diabetic Retinopathy	Associate	37318461
Idiopathic Pulmonary Fibrosis	Inhibit	20979602
Macular Edema	Associate	20655036
Prostatic Neoplasms	Associate	38297388
Retinitis Pigmentosa	Associate	20655036
Spondylitis Ankylosing	Associate	37667381