full name
calcium voltage-gated channel subunit alpha1 F

synonyms
AIED, Cav1.4, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2, CACNA1F, ENSG00000102001

HGNC
HGNC:1393

Entrez Gene
Gene:778

ENSEMBL
ENSG00000102001
ENSG00000269057

location
chr: X
start: 49061523
stop: 49089833
strand: -

OMIM
OMIM:300110: CACNA1F (X-linked inheritance)
OMIM:300600: Aland Island eye disease
OMIM:300476: Cone-rod dystrophy, X-linked, 3
OMIM:300071: Night blindness, congenital stationary (incomplete), 2A, X-linked

transcripts
NM_001256789.1
NM_005183.2
NM_001256790.1

pathways
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]
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]
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]
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]
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]
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]
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]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
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]
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]
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]