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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Retinitis pigmentosa	Pathogenic	rs1598717056	RCV001003119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 57	Pathogenic	rs1598717056	RCV000013981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Juvenile	Juvenile arthritis	Pubtator	35967305	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	37318461	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	20979602		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	20979602	Inhibit	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38297388	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20655036, 9385361		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	20655036	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 57	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	20655036		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 57	Retinitis Pigmentosa	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	37667381	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	31073882		★☆☆☆☆ Found in Text Mining only