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FLASH GENE

Symbol

PDE6G

contributors: mct - updated : 15-12-2020

HGNC name	phosphodiesterase 6G, cGMP-specific, rod, gamma
HGNC id	8789

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP19 retinitis pigmentosa autosomal recessive, 19
Location	17q25.3      Physical location : 79.617.488 - 79.623.607
Synonym name	retinal rod rhodopsin-sensitive cgmp 3', 5' cyclic phosphodiesterase subunit
	gamma
	GMP-PDE gamma
Synonym symbol(s)	PDEG, CNRG, MGC125749, DKFZp686C0587, RP57
EC.number	3.1.4.17/ 3.1.4.35

DNA

TYPE	functioning gene
STRUCTURE	12.67 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D17S40 - (0.25) - D17S4 - (0.16) - PDE6G /D17S24 - qter
Authors	Dollfus (93)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001365724 4 - 1007 NP_001352653 - 87 - 2010 20979602 NM_002602 4 - 1064 NP_002593 9.5 87 - 2010 20979602 NM_001365725 4 - 982 NP_001352654 - 87 - 2010 20979602

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve cranial nerve     highly Respiratory lung         Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cGMP binding domains
	a C terminal catalytic domain

mono polymer

tetramer , octamer , polymer

HOMOLOGY

interspecies

homolog to murine Pde6g

Homologene

FAMILY

rod/cone cGMP-PDE gamma subunit family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus

basic FUNCTION	participating in processes of transmission and amplification of the visual signal and critical role in regulating MAPK3 signaling
	functioning to link SRC and GPRK2 in a signaling unit that regulates MAPK3 by epidermal growth factor
	key regulator of phototransduction (Janisch 2009)
	positive role in maintaining PDE activity (Dvir 2010)
	with RHO, GNAT1, GNB1, are active in phototransduction in rods only
	PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6A and PDE6B code for the catalytic and PDE6G the inhibitory subunits in rods

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

photoreception

a component

oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma), and the delta chain

INTERACTION

DNA

RNA

small molecule

protein

effector of the G-protein GNAT1 (Janisch 2009)

cell & other

REGULATION

Other	phosphorylated by G-protein-coupled receptor kinase 2 on threonine 62
	phosphorylation of PDE6G may increase or decrease its ability to deactivate phototransduction (Janisch 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

ARRP19

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS