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FLASH GENE

Symbol

CNGA3

contributors: mct/npt/shn/pgu - updated : 21-06-2016

HGNC name	cyclic nucleotide gated channel alpha 3
HGNC id	2150

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACHM2 achromatopsia 2
Location	2q11.2      Physical location : 98.962.617 - 99.015.057
Synonym name	cone photoreceptor cGMP-gated channel subunit alpha
	cone photoreceptor cGMP-gated channel alpha subunit
	cyclic nucleotide-gated cation channel alpha-3
	cyclic nucleotide-gated channel alpha-3
	CNG channel alpha-3
	CCNCalpha
Synonym symbol(s)	CNCGCA, CCNC1, CNCG3, CNG3, CNG-3, CCNCa, ACHM2, CCNCalpha

DNA

TYPE	functioning gene
STRUCTURE	52.44 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D2S2222 - D2S2175 - CNGA3 - D2S2311 - D2S2187 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001079878 7 - 3794 NP_001073347 76 676 - 2007 17018579 lacking an alternate in-frame exon in the coding region NM_001298 8 - 3848 NP_001289 78 694 - 2007 17018579

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 Cardiovascular heart         endocrine brain diencephalon pituitary     Hearing/Equilibrium ear inner cochlea Corti   Homo sapiens Nervous brain diencephalon hypothalamus       spinal cord posterior horn     highly Homo sapiens Reproductive male system testis     highly Homo sapiens Urinary kidney       highly Homo sapiens Visual eye retina     predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial sensory olfactory

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Homo sapiens Visual bipolar cell Visual cone photoreceptor Visual ganglion cell Visual Muller cell

cell lineage
cell lines
fluid/secretion	sperm

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six transmembrane segments
	a pore domain between TM5 and TM6
	a cytoplasmic N terminal tail
	a C terminal comprising a cNMP binding site, a C-linker (a region that connects the CNBD to the sixth transmembrane segment in the pore region), and the distal C-terminus
	a leucine zipper homology domain (CLZ)

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	ortholog to Cnga3, Mus musculus
	ortholog to Cnga3, Rattus norvegicus
	ortholog to CNGA3, Pan troglodytes

Homologene

FAMILY

cyclic nucleotide gated ion channel family

CATEGORY

signaling , receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	localized to inhibitory neurons of the dorsal horn of the spinal cord, whereas its distribution in dorsal root ganglia is restricted to non-neuronal cells

basic FUNCTION	ligand gated ion channel involved in depolarization of cone photoreceptors
	crucial component of the phototransduction cascade in cone outer segments
	putative cGMP target in nociceptive processing (
	contributes in an inhibitory manner to the central sensitization of pain pathways during inflammatory pain as a target of NO/cGMP signaling (
	ER stress might play a crucial role in cone degeneration in CNG channel deficiency (CNGA3, CNGB3)
	play a pivotal role in cone phototransduction, which is a process essential for daylight vision, color vision, and visual acuity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction , sensory transduction/vision

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

a component

forming an heterotetramer with CNGB1 formed by three A and one B subunits

INTERACTION

DNA

RNA

small molecule	nucleotide,
	CNMP
	cation K+

protein	interacting with CNGB3 (essential role of CNGB3 in the biosynthesis of CNGA3)
	interacts with stereocilia tip-link CDH23 + exon 68 or alternatively with MYO7A, two proteins required for hair cell mechanotransduction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACHM2

related resource

Retinal Information Network

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes a complete loss of cone phototransduction

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	CNGA3(-/-) mice) exhibited an increased nociceptive behavior in models of inflammatory pain, whereas their behavior in models of acute or neuropathic pain was normal