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FLASH GENE

Symbol

PDE6C

contributors: mct/npt - updated : 14-12-2022

HGNC name	phosphodiesterase 6C, cGMP-specific, cone, alpha prime
HGNC id	8787

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RCD7 retinal cone dystrophy 7
Location	10q23.33      Physical location : 95.372.344 - 95.425.427
Synonym name	cGMP phosphodiesterase 6C
Synonym symbol(s)	PDEA2
EC.number	3.1.4.35

DNA

TYPE	functioning gene
STRUCTURE	53.08 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	enhancer located in a PDE6C intron drives transient expression in the cone photoreceptors of developing human retina

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006204 22 - 3358 NP_006195 - 858 - 2022 35644251

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 Hearing/Equilibrium ear inner cochlea Corti   Homo sapiens Visual eye retina fovea

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 Hearing / Equilibrium cochlea cell Homo sapiens Visual cone photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cGMP binding domains
	two GAF domains (GAF-A and GAF-B)
	a C terminal catalytic domain

HOMOLOGY

Homologene

FAMILY

cyclic nucleotide phosphodiesterase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

converts cGMP to 5prime-GMP, and thereby plays an essential role in cone phototransduction (Thiadens 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

	molecular pathway linking CNGA3, its binding partner EMILIN1 and PDE6C, which is potentially replicated in cochlear outer hair cells, given stereociliary immunolocalizations of CNGA3, EMILIN1 and PDE6C
	is an essential effector enzyme in vertebrate photoreceptor cells
	PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6C codes for the catalytic and PDE6H the inhibitory subunits in cones
	encodes the catalytic alpha prime-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade

a component

two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa

INTERACTION

DNA

RNA

small molecule

protein

AIPL1 was unexpectedly capable of inducing the maturation of unprenylated cone PDE6C, whereas mutant AIPL1 deficient in prenyl binding competently cochaperoned prenylated PDE6C

cell & other

REGULATION

activated by

TH (Liu 2007)

ASSOCIATED DISORDERS

corresponding disease(s)

RCD7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

spontaneous mouse mutant cpfl1, featuring a lack of cone function and rapid cone photoreceptor degeneration, represents a homologous mouse model for PDE6C associated achromatopsia (Chang 2009)