PDE6H (phosphodiesterase 6H)

Gene

• Entrez ID: 5149
• Gene name: Phosphodiesterase 6H
• Gene symbol: PDE6H
• Synonyms (NCBI Gene): ACHM6, RCD3
• Chromosome: 12
• Chromosome location: 12p12.3
• Summary: This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is i

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017528	hsa-miR-335-5p	Microarray	18185580
MIRT1220882	hsa-miR-421	CLIP-seq
MIRT1220883	hsa-miR-4709-5p	CLIP-seq
MIRT2292169	hsa-miR-488	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	8786098
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	8786098
GO:0016787	Function	Hydrolase activity	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

Other IDs

• MIM: 601190
• HGNC: 8790
• e!Ensembl: ENSG00000139053

Protein

• UniProt ID: Q13956
• Protein name: Retinal cone 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04868	PDE6_gamma	2 → 83	Retinal cGMP phosphodiesterase, gamma subunit	Family

• Sequence:

  MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDI
  TVICPWEAFSHLELHELAQFGII

• Sequence length: 83

Pathways

KEGG:

Purine metabolism
Metabolic pathways

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACHROMATOPSIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DEFECTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone dystrophy 3	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PDE6H-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal cone dystrophy 3A	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	22901948, 26063662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achromatopsia	Achromatopsia	GENOMICS_ENGLAND_DG	22901948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achromatopsia	Achromatopsia	CTD_human_DG	25739440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achromatopsia	Achromatopsia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achromatopsia	Achromatopsia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Achromatopsia	Achromatopsia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ACHROMATOPSIA 6	Achromatopsia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	25739440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color blindness	Color Blindness	CTD_human_DG	25739440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Color Blindness, Acquired	Color blindness	CTD_human_DG	25739440		★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	CTD_human_DG	25739440		★☆☆☆☆ Found in Text Mining only
Color Blindness, Inherited	Color blindness	CTD_human_DG	25739440		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red	Color blindness	CTD_human_DG	25739440		★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	CTD_human_DG	25739440		★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	22901948, 31237654, 32913385, 34360608, 36980963, 37372476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone Dystrophy	BEFREE	15629837		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	22901948	Associate	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	BEFREE	22901948		★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	25739440		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	BEFREE	25739440		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8104536		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	36980963	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8104536		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38272954	Associate	★☆☆☆☆ Found in Text Mining only
Pendular Nystagmus	Pendular nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Cone Dystrophy 3A	Retinal Cone Dystrophy	GENOMICS_ENGLAND_DG	22901948, 25739440		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Cone Dystrophy 3A	Retinal Cone Dystrophy	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Cone Dystrophy 3A	Retinal Cone Dystrophy	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	BEFREE	18235024		★☆☆☆☆ Found in Text Mining only