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Genes
CACNA1C
Gene - CACNA1C
full name
calcium voltage-gated channel subunit alpha1 C
synonyms
CACH2, CACN2, CACNL1A1, CaV1.2, CCHL1A1, LQT8, TS, CACNA1C, ENSG00000151067
HGNC
HGNC:1390
Entrez Gene
Gene:775
ENSEMBL
ENSG00000151067
location
chr: 12
start: 2079952
stop: 2807115
strand: +
OMIM
OMIM:114205
: CACNA1C
(Autosomal dominant inheritance)
OMIM:611875
: Brugada syndrome 3
OMIM:618447
: Long QT syndrome 8
OMIM:601005
: Timothy syndrome
transcripts
NM_001167624.1
NM_001167623.1
NM_001167625.1
NM_001129840.1
NM_199460.2
NM_001129827.1
NM_001129832.1
NM_001129831.1
NM_001129833.1
NM_001129842.1
NM_001129829.1
NM_001129834.1
NM_000719.6
NM_001129837.1
NM_001129839.1
NM_001129836.1
NM_001129841.1
NM_001129835.1
NM_001129830.1
NM_001129843.1
NM_001129838.1
NM_001129846.1
NM_001129844.1
pathways
Adrenaline,noradrenaline inhibits insulin secretion
[NCBI:1270103]
[REACTOME:R-HSA-400042]
[PUBMED:12684222]
[PUBMED:7641683]
[PUBMED:8997178]
[PUBMED:18162464]
[PUBMED:10449730]
[PUBMED:17900700]
[PUBMED:14514350]
Adrenergic signaling in cardiomyocytes
[NCBI:908257]
[KEGG:hsa04261]
[PUBMED:15232578]
[PUBMED:20923637]
[PUBMED:10571541]
[PUBMED:11604549]
[PUBMED:17988210]
[PUBMED:11805843]
[PUBMED:15142747]
[PUBMED:21212391]
[PUBMED:20658186]
[PUBMED:16765984]
[PUBMED:19874988]
[PUBMED:19883653]
[PUBMED:15979723]
[PUBMED:18407781]
[PUBMED:22022314]
[PUBMED:12439640]
[PUBMED:17826821]
[PUBMED:15765137]
Aldosterone synthesis and secretion
[NCBI:1272485]
[KEGG:hsa04925]
[PUBMED:15044681]
[PUBMED:10536682]
[PUBMED:24944029]
[PUBMED:25788893]
[PUBMED:15026188]
[PUBMED:22689262]
[PUBMED:22364774]
[PUBMED:18406824]
[PUBMED:14645496]
[PUBMED:21839803]
[PUBMED:22395411]
[PUBMED:23628605]
[PUBMED:21962440]
Alzheimer's disease
[NCBI:83097]
[KEGG:hsa05010]
[PUBMED:18782350]
[PUBMED:18035450]
[PUBMED:15177383]
[PUBMED:10527810]
[PUBMED:15363492]
[PUBMED:16677790]
[PUBMED:15295589]
[PUBMED:17055782]
[PUBMED:15864339]
[PUBMED:15750290]
[PUBMED:18675468]
[PUBMED:15232608]
[PUBMED:9848086]
[PUBMED:11484003]
[PUBMED:10830966]
[PUBMED:16529745]
[PUBMED:17568632]
Amphetamine addiction
[NCBI:547607]
[KEGG:hsa05031]
[PUBMED:16776597]
[PUBMED:18617632]
[PUBMED:16724157]
[PUBMED:19222557]
[PUBMED:14746512]
[PUBMED:18632938]
[PUBMED:8630246]
[PUBMED:14622123]
[PUBMED:21338876]
[PUBMED:8753884]
[PUBMED:10774721]
[PUBMED:14529709]
[PUBMED:17728700]
[PUBMED:21989194]
[PUBMED:16151049]
[PUBMED:18440072]
[PUBMED:19199083]
[PUBMED:10414964]
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
[NCBI:117293]
[KEGG:hsa05412]
[PUBMED:16823481]
[PUBMED:19205777]
[PUBMED:11716909]
[PUBMED:12270949]
[PUBMED:18382419]
[PUBMED:16101641]
[PUBMED:16124859]
[PUBMED:17413274]
Axon guidance
[NCBI:83065]
[KEGG:hsa04360]
[NCBI:1270303]
[REACTOME:R-HSA-422475]
[PUBMED:14682358]
[PUBMED:15084255]
[PUBMED:11687826]
[PUBMED:15818466]
[PUBMED:15363605]
[PUBMED:12471249]
[PUBMED:15630019]
[PUBMED:11891122]
[PUBMED:15960985]
[PUBMED:12677003]
Calcium signaling pathway
[NCBI:83050]
[KEGG:hsa04020]
[PUBMED:11080247]
[PUBMED:14572802]
[PUBMED:11413485]
[PUBMED:22129055]
[PUBMED:10508738]
[PUBMED:15000521]
[PUBMED:9235901]
[PUBMED:7861177]
[PUBMED:9149541]
[PUBMED:14517314]
[PUBMED:15111104]
[PUBMED:11698232]
[PUBMED:10331643]
[PUBMED:12838335]
[PUBMED:8125957]
[PUBMED:19172794]
[PUBMED:10997573]
[PUBMED:21338471]
[PUBMED:11299192]
[PUBMED:22002090]
[PUBMED:12972622]
Cardiac conduction
[NCBI:1339115]
[REACTOME:R-HSA-5576891]
[PUBMED:19808464]
[PUBMED:26140724]
[PUBMED:21357845]
Cardiac muscle contraction
[NCBI:93344]
[KEGG:hsa04260]
[PUBMED:16799263]
[PUBMED:18981594]
[PUBMED:12763850]
[PUBMED:16096350]
[PUBMED:16552170]
[PUBMED:15736582]
[PUBMED:14659803]
[PUBMED:17988210]
[PUBMED:11805843]
[PUBMED:10747208]
[PUBMED:16701909]
[PUBMED:11294886]
Cholinergic synapse
[NCBI:217716]
[KEGG:hsa04725]
[PUBMED:20060019]
[PUBMED:11283752]
[PUBMED:15165747]
[PUBMED:12893537]
[PUBMED:11738031]
[PUBMED:21550798]
[PUBMED:19712465]
[PUBMED:12690458]
[PUBMED:12436417]
[PUBMED:19378880]
[PUBMED:11923408]
[PUBMED:20446119]
Circadian entrainment
[NCBI:698773]
[KEGG:hsa04713]
[PUBMED:15016477]
[PUBMED:12700026]
[PUBMED:20605968]
[PUBMED:15813931]
[PUBMED:15930378]
[PUBMED:12573527]
[PUBMED:17586087]
[PUBMED:20664079]
[PUBMED:17646042]
[PUBMED:17167088]
[PUBMED:16217123]
[PUBMED:11294753]
[PUBMED:19109992]
[PUBMED:10446325]
[PUBMED:10208575]
[PUBMED:11086993]
[PUBMED:19449447]
Developmental Biology
[NCBI:1270302]
[REACTOME:R-HSA-1266738]
Dilated cardiomyopathy
[NCBI:121494]
[KEGG:hsa05414]
[PUBMED:11524405]
[PUBMED:11805847]
[PUBMED:12270949]
[PUBMED:14522402]
[PUBMED:19017683]
[PUBMED:15146239]
[PUBMED:18672201]
[PUBMED:19273156]
[PUBMED:19246813]
[PUBMED:11716909]
[PUBMED:16817756]
Dopaminergic synapse
[NCBI:469199]
[KEGG:hsa04728]
[PUBMED:20727368]
[PUBMED:10433257]
[PUBMED:17408758]
[PUBMED:15292232]
[PUBMED:9457173]
[PUBMED:17349698]
[PUBMED:15521361]
[PUBMED:18353279]
[PUBMED:21303898]
[PUBMED:19251795]
[PUBMED:15381316]
[PUBMED:15590733]
[PUBMED:20224735]
[PUBMED:19138563]
[PUBMED:12967774]
GABAergic synapse
[NCBI:377263]
[KEGG:hsa04727]
[PUBMED:21555068]
[PUBMED:20655485]
[PUBMED:16932937]
[PUBMED:17499108]
[PUBMED:12086709]
[PUBMED:20655481]
[PUBMED:21376567]
[PUBMED:19374920]
[PUBMED:17499109]
[PUBMED:10780899]
[PUBMED:16787421]
[PUBMED:15210304]
[PUBMED:18382465]
[PUBMED:12888801]
[PUBMED:9364667]
Glutamatergic synapse
[NCBI:213818]
[KEGG:hsa04724]
[PUBMED:10481192]
[PUBMED:11561058]
[PUBMED:18425072]
[PUBMED:17706608]
[PUBMED:20055706]
[PUBMED:19112153]
[PUBMED:17663464]
[PUBMED:19110202]
[PUBMED:19559598]
[PUBMED:9665875]
[PUBMED:11672421]
[PUBMED:18464791]
[PUBMED:12399578]
[PUBMED:14684436]
GnRH signaling pathway
[NCBI:83091]
[KEGG:hsa04912]
[PUBMED:15080147]
[PUBMED:15982836]
[PUBMED:14596811]
[PUBMED:15613448]
[PUBMED:12943720]
[PUBMED:10707049]
[PUBMED:15350605]
[PUBMED:12963732]
Hypertrophic cardiomyopathy (HCM)
[NCBI:114229]
[KEGG:hsa05410]
[PUBMED:11805847]
[PUBMED:18572189]
[PUBMED:14711353]
[PUBMED:19136482]
[PUBMED:18056765]
[PUBMED:11225594]
[PUBMED:12844200]
[PUBMED:10615904]
[PUBMED:11716909]
[PUBMED:11371514]
[PUBMED:12270949]
Insulin secretion
[NCBI:777534]
[KEGG:hsa04911]
[PUBMED:9715374]
[PUBMED:10605628]
[PUBMED:9914469]
[PUBMED:17306374]
[PUBMED:20055708]
[PUBMED:15655710]
[PUBMED:19817784]
[PUBMED:19074620]
[PUBMED:14693691]
[PUBMED:17084085]
[PUBMED:20551594]
[PUBMED:19036624]
[PUBMED:22970724]
[PUBMED:20225132]
[PUBMED:19817800]
[PUBMED:22974438]
[PUBMED:21934040]
[PUBMED:15271645]
[PUBMED:19660440]
[PUBMED:11522660]
Integration of energy metabolism
[NCBI:1270101]
[REACTOME:R-HSA-163685]
[PUBMED:15509864]
[PUBMED:12721358]
[PUBMED:12626323]
Long-term potentiation
[NCBI:83085]
[KEGG:hsa04720]
[PUBMED:9697848]
[PUBMED:15652868]
[PUBMED:15803158]
[PUBMED:11378299]
[PUBMED:10652548]
[PUBMED:15857686]
[PUBMED:14715912]
MAPK signaling pathway
[NCBI:83048]
[KEGG:hsa04010]
[PUBMED:11749383]
[PUBMED:12566928]
[PUBMED:12849693]
[PUBMED:12676795]
[PUBMED:12947395]
[PUBMED:14597384]
[PUBMED:11369511]
[PUBMED:12191611]
[PUBMED:12390245]
Metabolism
[NCBI:1269956]
[REACTOME:R-HSA-1430728]
Muscle contraction
[NCBI:1269868]
[REACTOME:R-HSA-397014]
NCAM signaling for neurite out-growth
[NCBI:1270312]
[REACTOME:R-HSA-375165]
[PUBMED:18760361]
[PUBMED:12587671]
[PUBMED:15662836]
[PUBMED:17975827]
[PUBMED:15153429]
[PUBMED:12700044]
NCAM1 interactions
[NCBI:1270313]
[REACTOME:R-HSA-419037]
[PUBMED:18607724]
[PUBMED:15662836]
Oxytocin signaling pathway
[NCBI:952859]
[KEGG:hsa04921]
[PUBMED:23356278]
[PUBMED:9219843]
[PUBMED:20626426]
[PUBMED:18555543]
[PUBMED:22190926]
[PUBMED:21981277]
[PUBMED:9575824]
[PUBMED:22227279]
[PUBMED:19840865]
[PUBMED:11861513]
[PUBMED:9326674]
[PUBMED:12433531]
[PUBMED:18655881]
[PUBMED:23335873]
[PUBMED:22902539]
[PUBMED:16156781]
[PUBMED:20141572]
[PUBMED:14715914]
[PUBMED:12009385]
[PUBMED:16787565]
[PUBMED:16966388]
Phase 0 - rapid depolarisation
[NCBI:1339117]
[REACTOME:R-HSA-5576892]
[PUBMED:21357845]
[PUBMED:19808464]
Phase 2 - plateau phase
[NCBI:1339119]
[REACTOME:R-HSA-5576893]
[PUBMED:21357845]
[PUBMED:19808464]
Regulation of insulin secretion
[NCBI:1270102]
[REACTOME:R-HSA-422356]
[PUBMED:18200017]
[PUBMED:11078440]
[PUBMED:16321791]
[PUBMED:11815463]
[PUBMED:16556766]
Renin secretion
[NCBI:1222951]
[KEGG:hsa04924]
[PUBMED:24944035]
[PUBMED:22733355]
[PUBMED:20936939]
[PUBMED:12949225]
[PUBMED:17360952]
[PUBMED:17928544]
[PUBMED:19948673]
[PUBMED:12388321]
[PUBMED:15283749]
[PUBMED:22237158]
[PUBMED:22258323]
[PUBMED:9882634]
[PUBMED:20393195]
[PUBMED:22124804]
Retrograde endocannabinoid signaling
[NCBI:537443]
[KEGG:hsa04723]
[PUBMED:16085309]
[PUBMED:18515270]
[PUBMED:15340387]
[PUBMED:17636069]
[PUBMED:17553427]
[PUBMED:17404373]
[PUBMED:19640475]
[PUBMED:21117095]
[PUBMED:18084639]
[PUBMED:21187849]
[PUBMED:18801434]
[PUBMED:14978245]
[PUBMED:21531987]
[PUBMED:19553483]
[PUBMED:19126760]
[PUBMED:17419048]
[PUBMED:18948642]
[PUBMED:16968947]
Serotonergic synapse
[NCBI:525336]
[KEGG:hsa04726]
[PUBMED:9658404]
[PUBMED:15034221]
[PUBMED:11043573]
[PUBMED:9651340]
[PUBMED:9542727]
[PUBMED:18676031]
[PUBMED:12543273]
[PUBMED:15710402]
[PUBMED:16826372]
[PUBMED:19545642]
[PUBMED:11916537]
[PUBMED:11701344]
[PUBMED:12676358]
[PUBMED:20561690]
[PUBMED:16896947]
Taste transduction
[NCBI:83088]
[KEGG:hsa04742]
[PUBMED:14715493]
[PUBMED:17108952]
[PUBMED:21481196]
[PUBMED:20696704]
[PUBMED:19439032]
[PUBMED:24607224]
[PUBMED:23261954]
[PUBMED:25820328]
[PUBMED:23587289]
[PUBMED:23467090]
[PUBMED:22570381]
[PUBMED:19284629]
[PUBMED:23959882]
[PUBMED:17287577]
[PUBMED:24385952]
Type II diabetes mellitus
[NCBI:83094]
[KEGG:hsa04930]
[PUBMED:12480546]
[PUBMED:15759102]
[PUBMED:9011569]
[PUBMED:11078440]
[PUBMED:11390407]
[PUBMED:15258147]
[PUBMED:15823385]
[PUBMED:11272200]
[PUBMED:11325516]
[PUBMED:15733744]
[PUBMED:9974390]
[PUBMED:7491105]
[PUBMED:15585596]
Vascular smooth muscle contraction
[NCBI:96530]
[KEGG:hsa04270]
[PUBMED:16870827]
[PUBMED:10911373]
[PUBMED:11679404]
[PUBMED:16339747]
[PUBMED:10221985]
[PUBMED:12689814]
[PUBMED:11165670]
[PUBMED:18552454]
[PUBMED:12060106]
[PUBMED:9458738]
[PUBMED:15725705]
[PUBMED:18040024]
[PUBMED:12693609]
[PUBMED:11773611]
[PUBMED:17158339]
[PUBMED:17458653]
[PUBMED:15026027]
[PUBMED:19120701]
[PUBMED:15269340]
[PUBMED:18703404]
[PUBMED:11709400]
[PUBMED:17200683]
cAMP signaling pathway
[NCBI:1017634]
[KEGG:hsa04024]
[PUBMED:10880354]
[PUBMED:9204709]
[PUBMED:21693691]
[PUBMED:24062645]
[PUBMED:24450633]
[PUBMED:21346730]
[PUBMED:24613710]
[PUBMED:21744067]
[PUBMED:22082266]
[PUBMED:16460276]
[PUBMED:18176800]
[PUBMED:14715909]
[PUBMED:7688165]
[PUBMED:24281338]
[PUBMED:11117527]
[PUBMED:16765984]
[PUBMED:18323530]
[PUBMED:18064650]
[PUBMED:21852968]
[PUBMED:11493633]
[PUBMED:21212391]
[PUBMED:15142747]
[PUBMED:17077866]
[PUBMED:19460777]
[PUBMED:19874988]
[PUBMED:16571352]
[PUBMED:22022314]
cGMP-PKG signaling pathway
[NCBI:983748]
[KEGG:hsa04022]
[PUBMED:18006449]
[PUBMED:9003029]
[PUBMED:18040025]
[PUBMED:19306895]
[PUBMED:21666108]
[PUBMED:12524221]
[PUBMED:16460276]
[PUBMED:20716671]
[PUBMED:22785374]
[PUBMED:11522789]
[PUBMED:16439998]
[PUBMED:16371594]
[PUBMED:20388537]
[PUBMED:18757523]
[PUBMED:16815627]
[PUBMED:23212367]
[PUBMED:21685243]
[PUBMED:20024580]
[PUBMED:15894227]
[PUBMED:22965426]
[PUBMED:17643091]
[PUBMED:19176601]
[PUBMED:19961855]