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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cone dystrophy 3	Uncertain significance	rs533569725	RCV000341610
PDE6H-related disorder	Conflicting classifications of pathogenicity	rs200311463	RCV000779093
Retinal cone dystrophy 3A	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs564659543, rs11056264, rs114575851, rs2230872, rs886049109, rs886049110, rs558075003, rs3748304, rs571862339, rs144778897, rs77796036, rs886049108, rs200311463, rs188351941, rs955172114, rs775561506, rs199740819	RCV005629602 RCV005629542 RCV005629543 RCV005629544 RCV005629547 RCV005629548 RCV005629551 RCV005629550 RCV005629552 RCV005629546 RCV005629549 RCV005629545 RCV005629479 RCV005629590 RCV005629591 RCV005629592 RCV005629589
Retinal dystrophy	Conflicting classifications of pathogenicity	rs200311463	RCV004794348

Associations from Text Mining
Disease Name	Relationship Type	References
Color Vision Defects	Associate	22901948, 31237654, 32913385, 34360608, 36980963, 37372476
Cone Dystrophy	Associate	22901948
Leukemia Lymphocytic Chronic B Cell	Associate	8104536
Lymphoma Non Hodgkin	Associate	8104536
Myopia	Associate	36980963
Neoplasms	Inhibit	8104536
Parkinson Disease	Associate	38272954