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FLASH GENE

Symbol

CACNA1G

contributors: mct/npt - updated : 08-12-2016

HGNC name	calcium channel, voltage-dependent, T type, alpha 1G subunit
HGNC id	1394

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018896 38 - 8254 NP_061496 262 2377 - 2006 16671074 NM_198376 35 - 7646 NP_938190 - 2171 - 2006 16671074 NM_198377 37 - 8231 NP_938191 - 2366 - 2006 16671074 NM_198378 35 - 7952 NP_938192 - 2273 - 2006 16671074 NM_198379 35 - 8025 NP_938193 - 2298 - 2006 16671074 NM_198380 36 - 8096 NP_938194 - 2321 - 2006 16671074 NM_198382 36 - 7916 NP_938196 - 2261 - 2006 16671074 NM_198383 36 - 8051 NP_938197 - 2306 - 2006 16671074 NM_198384 36 - 7985 NP_938198 - 2284 - 2006 16671074 NM_198385 37 - 8129 NP_938199 - 2332 - 2006 16671074 NM_198386 35 - 7931 NP_938200 - 2266 - 2006 16671074 NM_198387 34 - 7883 NP_938201 - 2250 - 2006 16671074 NM_198388 34 - 7862 NP_938202 - 2243 - 2006 16671074 NM_198396 36 - 8162 NP_938406 - 2343 - 2006 16671074 NM_001256325 36 - 8006 NP_001243254 - 2291 - 2006 16671074 NM_001256333 37 - 7748 NP_001243262 - 2205 - 2006 16671074 NM_001256334 36 - 7715 NP_001243263 - 2194 - 2006 16671074 NM_001256327 36 - 7964 NP_001243256 - 2277 - 2006 16671074 NM_001256324 36 - 8075 NP_001243253 - 2314 - 2006 16671074 NM_001256328 35 - 7910 NP_001243257 - 2259 - 2006 16671074 NM_001256360 35 - 7877 NP_001243289 - 2248 - 2006 16671074 NM_001256361 35 - 7871 NP_001243290 - 2246 - 2006 16671074 NM_001256359 36 - 7904 NP_001243288 - 2257 - 2006 16671074 NM_001256326 36 - 7994 NP_001243255 - 2287 - 2006 16671074 NM_001256330 35 - 7850 NP_001243259 - 2239 - 2006 16671074 NM_001256331 35 - 7829 NP_001243260 - 2232 - 2006 16671074 NM_001256329 35 - 7883 NP_001243258 - 2250 - 2006 16671074 NM_001256332 35 - 7814 NP_001243261 - 2227 - 2006 16671074

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 Cardiovascular heart         Hearing/Equilibrium ear         Nervous brain       predominantly   brain hindbrain cerebellum   highly Homo sapiens Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth uterus myometrium highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four domains of homology
	each with six alpha helical membrane spanning segments including several isoforms (CAV31C)

HOMOLOGY

Homologene

FAMILY

calcium channel alpha-1 subunit family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	calcium low activated (LVA) voltage-gated channel, T (fast inactivation, small conductance) type
	producing large and transient currents
	KCNC2, CACNA1G regulate thalamic relay neuron sensory transmission and each channel subtype controls a different stimulus-response curve property

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	inhibited by G protein beta2gamma2 subunit
	CACNA1G, CACNA1H are substrates for EHD3-dependent protein trafficking in heart, implicating EHD3 as a key player in the regulation of atrial myocyte excitability and cardiac conduction

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA42 , CHCA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   aberrantly methylated and inactivated in colon and gastric carcinomas and leukemia

Susceptibility

to idiopathic generalized epilepsies

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS