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FLASH GENE

Symbol

PDE6H

contributors: mct - updated : 20-12-2022

HGNC name	phosphodiesterase 6H, cGMP-specific, cone, gamma
HGNC id	8790

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RCD6 retinal cone dystrophy 6
Location	12p12.3      Physical location : 15.125.955 - 15.134.797
Synonym symbol(s)	ACHM6, RCD3
EC.number	3.1.4.35

DNA

TYPE	functioning gene
STRUCTURE	8.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006205 4 - 727 NP_006196 - 83 - 2007 17286855

EXPRESSION

Type	restricted

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 brain         Visual eye         Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens

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, important in conferring inhibition

mono polymer

tetramer

HOMOLOGY

Homologene

FAMILY

rod/cone cGMP-PDE gamma subunit family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	participating in processes of transmission and amplification of the visual signal
	effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones
	PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6C codes for the catalytic and PDE6H the inhibitory subunits in cones

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

two catalytic chains (alpha and beta), and two inhibitory chains (gamma)

INTERACTION

DNA

RNA

small molecule

protein

MEF2D is required for the expression of various genes in photoreceptor and bipolar cells, including ARR3, GUCA1B, PDE6H and CACNA1S, which encode outer segment and synapse proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RCD6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mef2c knock-down in murine 661W cells reduced the expression of Arr3 and Opn1mw but increased transcript levels of Mapk15 and Pde6h