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FLASH GENE

Symbol

CACNG3

contributors: - updated : 23-04-2007

HGNC name	calcium channel, voltage-dependent, gamma subunit 3
HGNC id	1407

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type	restricted

constitutive of

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 Urinary kidney         Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

glycosylated transmembrane subunit, tightly linked to alpha 1 subunit

HOMOLOGY

interspecies

ortholog to mouse stargazin protein

Homologene

FAMILY

neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	calcium voltage-gated channel (VDCC), L type
	dihydropyridine (DPH) sensitive, gamma regulatory subunit 3, may be stabilizing the calcium channel in an inactivated state

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to childhood absence epilepsy

Variant & Polymorphism other	four variants are predicted to affect exonic splicing, and increasing the risk of childhood absence epilepsy

Candidate gene	for a familial infantile convulsive disorder with paroxysomal choreoathetosis
Marker
Therapy target

ANIMAL & CELL MODELS