full name
actinin alpha 2

synonyms
CMD1AA, ACTN2, ENSG00000077522

HGNC
HGNC:164

Entrez Gene
Gene:88

ENSEMBL
ENSG00000077522

location
chr: 1
start: 236849754
stop: 236927931
strand: +

OMIM
OMIM:102573: ACTN2 (Autosomal dominant inheritance)
OMIM:612158: Cardiomyopathy, dilated, 1AA, with or without LVNC
OMIM:612158: Cardiomyopathy, hypertrophic, 23, with or without LVNC

transcripts
NM_001278344.1
ENST00000542672
ENST00000366578

pathways
ARMS-mediated activation [NCBI:1269471] [REACTOME:R-HSA-170984] [PUBMED:9069267]
Activation of NMDA receptor upon glutamate binding and postsynaptic events [NCBI:1268798] [REACTOME:R-HSA-442755] [PUBMED:18616423]
Adherens junction [NCBI:83070] [KEGG:hsa04520] [PUBMED:10890911] [PUBMED:11703922] [PUBMED:15551862] [PUBMED:11984870] [PUBMED:15561584] [PUBMED:10204118] [PUBMED:15489912] [PUBMED:12640114] [PUBMED:14623871] [PUBMED:10959047] [PUBMED:12665527] [PUBMED:15001769] [PUBMED:11171368]
Amoebiasis [NCBI:167324] [KEGG:hsa05146] [PUBMED:9832261] [PUBMED:14700586] [PUBMED:10637584] [PUBMED:18725798] [PUBMED:12160867] [PUBMED:20145703] [PUBMED:15813717] [PUBMED:19207103] [PUBMED:20303955] [PUBMED:12660071] [PUBMED:10756002] [PUBMED:14502002] [PUBMED:17702556] [PUBMED:17576362] [PUBMED:16380324] [PUBMED:12142490] [PUBMED:11378035] [PUBMED:11352795]
Arrhythmogenic right ventricular cardiomyopathy [NCBI:672454] [WikiPathways:WP2118]
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:17413274] [PUBMED:16124859]
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:11687826] [PUBMED:15084255] [PUBMED:15818466] [PUBMED:12471249] [PUBMED:15363605] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
CREB phosphorylation through the activation of CaMKII [NCBI:1268805] [REACTOME:R-HSA-442729] [PUBMED:16799259]
CREB phosphorylation through the activation of Ras [NCBI:1268801] [REACTOME:R-HSA-442742] [PUBMED:12819448]
Cell-Cell communication [NCBI:1270231] [REACTOME:R-HSA-1500931] [PUBMED:20554646] [PUBMED:17766183] [PUBMED:12598678] [PUBMED:16691243] [PUBMED:1616050] [PUBMED:18837673]
Cytokine Signaling in Immune system [NCBI:1269310] [REACTOME:R-HSA-1280215] [PUBMED:12613569]
DAP12 interactions [NCBI:1269283] [REACTOME:R-HSA-2172127] [PUBMED:19120482] [PUBMED:17220916] [PUBMED:9490415] [PUBMED:18192027] [PUBMED:15884055]
DAP12 signaling [NCBI:1269284] [REACTOME:R-HSA-2424491] [PUBMED:15884055] [PUBMED:17110943] [PUBMED:17220916]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Downstream signal transduction [NCBI:1269479] [REACTOME:R-HSA-186763] [PUBMED:10508235] [PUBMED:9739761]
Downstream signaling of activated FGFR1 [NCBI:1269392] [REACTOME:R-HSA-5654687] [PUBMED:8752212]
Downstream signaling of activated FGFR2 [NCBI:1269403] [REACTOME:R-HSA-5654696] [PUBMED:8752212]
Downstream signaling of activated FGFR3 [NCBI:1269413] [REACTOME:R-HSA-5654708] [PUBMED:8752212]
Downstream signaling of activated FGFR4 [NCBI:1269422] [REACTOME:R-HSA-5654716] [PUBMED:8752212]
FCERI mediated MAPK activation [NCBI:1269299] [REACTOME:R-HSA-2871796] [PUBMED:19290926] [PUBMED:19909365] [PUBMED:17122878]
FRS-mediated FGFR1 signaling [NCBI:1269393] [REACTOME:R-HSA-5654693] [PUBMED:15863030] [PUBMED:11447289] [PUBMED:18452557] [PUBMED:16682955]
FRS-mediated FGFR2 signaling [NCBI:1269404] [REACTOME:R-HSA-5654700] [PUBMED:18452557] [PUBMED:11447289] [PUBMED:16682955] [PUBMED:15863030]
FRS-mediated FGFR3 signaling [NCBI:1269414] [REACTOME:R-HSA-5654706] [PUBMED:15863030] [PUBMED:11447289] [PUBMED:18452557] [PUBMED:16682955]
FRS-mediated FGFR4 signaling [NCBI:1269423] [REACTOME:R-HSA-5654712] [PUBMED:18452557] [PUBMED:11447289] [PUBMED:16682955] [PUBMED:15863030]
Fc epsilon receptor (FCERI) signaling [NCBI:1269298] [REACTOME:R-HSA-2454202] [PUBMED:21799019] [PUBMED:15099567]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:14756624] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:15179030] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:11146675] [PUBMED:15034601] [PUBMED:14519391] [PUBMED:12235283] [PUBMED:11229600] [PUBMED:11882383] [PUBMED:14744429] [PUBMED:15688067]
Frs2-mediated activation [NCBI:1269470] [REACTOME:R-HSA-170968] [PUBMED:9069267]
GRB2 events in EGFR signaling [NCBI:1269382] [REACTOME:R-HSA-179812] [PUBMED:11706405] [PUBMED:11498013]
Gastrin-CREB signalling pathway via PKC and MAPK [NCBI:1269592] [REACTOME:R-HSA-881907] [PUBMED:10413847] [PUBMED:7491953] [PUBMED:17698287]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
IGF1R signaling cascade [NCBI:1269618] [REACTOME:R-HSA-2428924] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959]
IRS-mediated signalling [NCBI:1269431] [REACTOME:R-HSA-112399]
IRS-related events triggered by IGF1R [NCBI:1269620] [REACTOME:R-HSA-2428928] [PUBMED:20975071] [PUBMED:17598937] [PUBMED:22649417] [PUBMED:18927274] [PUBMED:21042815] [PUBMED:20098959]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Insulin receptor signalling cascade [NCBI:1269429] [REACTOME:R-HSA-74751] [PUBMED:9677303] [PUBMED:11282018]
Interleukin receptor SHC signaling [NCBI:1269322] [REACTOME:R-HSA-912526] [PUBMED:8294403]
Interleukin-2 signaling [NCBI:1269321] [REACTOME:R-HSA-451927] [PUBMED:17936914] [PUBMED:18817510] [PUBMED:18062768] [PUBMED:19543225]
Interleukin-3, 5 and GM-CSF signaling [NCBI:1269323] [REACTOME:R-HSA-512988] [PUBMED:10450743] [PUBMED:9766809]
Leukocyte transendothelial migration [NCBI:83083] [KEGG:hsa04670] [PUBMED:15629883] [PUBMED:10975856] [PUBMED:14976004] [PUBMED:15265790] [PUBMED:15173832] [PUBMED:12540948] [PUBMED:15604886] [PUBMED:15771581] [PUBMED:14977592]
MAPK family signaling cascades [NCBI:1269501] [REACTOME:R-HSA-5683057] [PUBMED:21167873] [PUBMED:17161475] [PUBMED:22535895] [PUBMED:21372320]
MAPK1/MAPK3 signaling [NCBI:1269502] [REACTOME:R-HSA-5684996] [PUBMED:25378393] [PUBMED:18199641] [PUBMED:17496909] [PUBMED:15520807] [PUBMED:16393692] [PUBMED:19520853] [PUBMED:22569528] [PUBMED:21779496] [PUBMED:17496910]
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]
NGF signalling via TRKA from the plasma membrane [NCBI:1269460] [REACTOME:R-HSA-187037] [PUBMED:11520933] [PUBMED:12676795] [PUBMED:10851172] [PUBMED:10579918]
Nephrin interactions [NCBI:1270243] [REACTOME:R-HSA-373753] [PUBMED:12832477] [PUBMED:15821412] [PUBMED:10393930] [PUBMED:19649571] [PUBMED:15994232] [PUBMED:16571882] [PUBMED:17766183] [PUBMED:10541305]
Neuronal System [NCBI:1268763] [REACTOME:R-HSA-112316]
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell [NCBI:1268786] [REACTOME:R-HSA-112314]
Platelet activation, signaling and aggregation [NCBI:1269350] [REACTOME:R-HSA-76002] [PUBMED:16543958] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:12681240] [PUBMED:11511514] [PUBMED:8704248] [PUBMED:17059469] [PUBMED:12411949]
Platelet degranulation [NCBI:1269367] [REACTOME:R-HSA-114608] [PUBMED:14630798]
Post NMDA receptor activation events [NCBI:1268800] [REACTOME:R-HSA-438064] [PUBMED:18616423]
Prolonged ERK activation events [NCBI:1269469] [REACTOME:R-HSA-169893] [PUBMED:12765839] [PUBMED:9069267]
RAF/MAP kinase cascade [NCBI:1269285] [REACTOME:R-HSA-5673001] [PUBMED:21167873] [PUBMED:20674547] [PUBMED:17496910] [PUBMED:24937142] [PUBMED:17496919] [PUBMED:22177953] [PUBMED:12068308] [PUBMED:19091303] [PUBMED:21372320] [PUBMED:17496923] [PUBMED:15520807] [PUBMED:21388974] [PUBMED:22569528] [PUBMED:22535895]
Ras activation uopn Ca2+ infux through NMDA receptor [NCBI:1268802] [REACTOME:R-HSA-442982] [PUBMED:14622581]
Regulation of actin cytoskeleton [NCBI:83089] [KEGG:hsa04810] [PUBMED:11152757] [PUBMED:11082272] [PUBMED:10574699] [PUBMED:14657486] [PUBMED:11082269] [PUBMED:14744429] [PUBMED:12700767]
Response to elevated platelet cytosolic Ca2+ [NCBI:1269365] [REACTOME:R-HSA-76005] [PUBMED:8424766]
SHC1 events in EGFR signaling [NCBI:1269383] [REACTOME:R-HSA-180336] [PUBMED:11498013] [PUBMED:8755247]
SHC1 events in ERBB4 signaling [NCBI:1269497] [REACTOME:R-HSA-1250347]
SOS-mediated signalling [NCBI:1269440] [REACTOME:R-HSA-112412]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:19648010] [PUBMED:17604717] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:15863030] [PUBMED:21252999] [PUBMED:19379690] [PUBMED:19536106] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:15450248] [PUBMED:15520807] [PUBMED:16939974] [PUBMED:18483217] [PUBMED:18043707] [PUBMED:19762341] [PUBMED:21781017] [PUBMED:17084981] [PUBMED:19619488] [PUBMED:17496910]
Signaling by EGFR [NCBI:1269380] [REACTOME:R-HSA-177929] [PUBMED:10459005] [PUBMED:10404636] [PUBMED:15142631] [PUBMED:12297041]
Signaling by ERBB4 [NCBI:1269496] [REACTOME:R-HSA-1236394] [PUBMED:9275162] [PUBMED:9168115] [PUBMED:19193720] [PUBMED:16914727] [PUBMED:17545517] [PUBMED:7929212] [PUBMED:17018285] [PUBMED:9135143] [PUBMED:11679632] [PUBMED:15534001] [PUBMED:10744726] [PUBMED:8665853] [PUBMED:18653779] [PUBMED:7565730] [PUBMED:16978839] [PUBMED:15023535] [PUBMED:16061658] [PUBMED:17463226] [PUBMED:9556621] [PUBMED:18721752] [PUBMED:19047365] [PUBMED:12807903] [PUBMED:12869563] [PUBMED:10867024] [PUBMED:16778220] [PUBMED:16912174] [PUBMED:1706616] [PUBMED:8617750] [PUBMED:10722704]
Signaling by FGFR [NCBI:1269386] [REACTOME:R-HSA-190236] [PUBMED:12080084] [PUBMED:20602996] [PUBMED:15863030] [PUBMED:15567848] [PUBMED:7917292] [PUBMED:19247306] [PUBMED:16597617] [PUBMED:15863038]
Signaling by FGFR1 [NCBI:1269387] [REACTOME:R-HSA-5654736] [PUBMED:16597617] [PUBMED:19247306] [PUBMED:12080084] [PUBMED:15863038] [PUBMED:20602996] [PUBMED:15567848] [PUBMED:15863030] [PUBMED:7917292]
Signaling by FGFR2 [NCBI:1269399] [REACTOME:R-HSA-5654738] [PUBMED:16597617] [PUBMED:19247306] [PUBMED:15863038] [PUBMED:12080084] [PUBMED:15863030] [PUBMED:20602996] [PUBMED:15567848] [PUBMED:7917292]
Signaling by FGFR3 [NCBI:1269409] [REACTOME:R-HSA-5654741] [PUBMED:19247306] [PUBMED:16597617] [PUBMED:15863038] [PUBMED:12080084] [PUBMED:20602996] [PUBMED:15567848] [PUBMED:15863030] [PUBMED:7917292]
Signaling by FGFR4 [NCBI:1269419] [REACTOME:R-HSA-5654743] [PUBMED:12080084] [PUBMED:15863038] [PUBMED:7917292] [PUBMED:15863030] [PUBMED:19247306] [PUBMED:16597617] [PUBMED:15567848] [PUBMED:20602996]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
Signaling by Insulin receptor [NCBI:1269428] [REACTOME:R-HSA-74752] [PUBMED:8276779]
Signaling by Interleukins [NCBI:1269318] [REACTOME:R-HSA-449147] [PUBMED:19302047] [PUBMED:12445398]
Signaling by Leptin [NCBI:1269632] [REACTOME:R-HSA-2586552] [PUBMED:23562747] [PUBMED:22458591] [PUBMED:22211890] [PUBMED:20600241] [PUBMED:23579596] [PUBMED:21489811] [PUBMED:21622208] [PUBMED:22448029] [PUBMED:21147620] [PUBMED:21331644] [PUBMED:21677426] [PUBMED:22249808] [PUBMED:20029269] [PUBMED:17937601] [PUBMED:21527729] [PUBMED:22991412] [PUBMED:22289780] [PUBMED:20553370] [PUBMED:23565489] [PUBMED:19724019] [PUBMED:20198122] [PUBMED:21713385]
Signaling by PDGF [NCBI:1269478] [REACTOME:R-HSA-186797] [PUBMED:15207811] [PUBMED:10508235] [PUBMED:9739761]
Signaling by SCF-KIT [NCBI:1269487] [REACTOME:R-HSA-1433557] [PUBMED:16483568] [PUBMED:7688988] [PUBMED:16475976] [PUBMED:19540337] [PUBMED:15526160] [PUBMED:17350321]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:18927274] [PUBMED:20098959] [PUBMED:21042815] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22044904] [PUBMED:22649417]
Signaling by VEGF [NCBI:1269480] [REACTOME:R-HSA-194138] [PUBMED:15585754] [PUBMED:13678960] [PUBMED:16336962] [PUBMED:16835467]
Signalling by NGF [NCBI:1269443] [REACTOME:R-HSA-166520]
Signalling to ERKs [NCBI:1269464] [REACTOME:R-HSA-187687] [PUBMED:10508738]
Signalling to RAS [NCBI:1269465] [REACTOME:R-HSA-167044] [PUBMED:11520933]
Signalling to p38 via RIT and RIN [NCBI:1269468] [REACTOME:R-HSA-187706] [PUBMED:10712923]
Striated Muscle Contraction [NCBI:198903] [WikiPathways:WP383] [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]
Systemic lupus erythematosus [NCBI:83122] [KEGG:hsa05322] [PUBMED:12835292] [PUBMED:12965173] [PUBMED:16932712] [PUBMED:10025913] [PUBMED:17943287] [PUBMED:15972354] [PUBMED:15380523] [PUBMED:8048228] [PUBMED:18305268] [PUBMED:10430616] [PUBMED:15459673]
Tight junction [NCBI:83071] [KEGG:hsa04530] [PUBMED:12612641] [PUBMED:12270945] [PUBMED:15551862] [PUBMED:15269339] [PUBMED:12791297] [PUBMED:15151915] [PUBMED:12475568] [PUBMED:11283726]
Transmission across Chemical Synapses [NCBI:1268766] [REACTOME:R-HSA-112315]
Unblocking of NMDA receptor, glutamate binding and activation [NCBI:1268799] [REACTOME:R-HSA-438066] [PUBMED:9481670]
VEGFA-VEGFR2 Pathway [NCBI:1269483] [REACTOME:R-HSA-4420097] [PUBMED:16633338] [PUBMED:17344076] [PUBMED:13678960] [PUBMED:19230644]
VEGFR2 mediated cell proliferation [NCBI:1269485] [REACTOME:R-HSA-5218921] [PUBMED:22180219] [PUBMED:22762016] [PUBMED:22866201]
Viral carcinogenesis [NCBI:658418] [KEGG:hsa05203] [PUBMED:15173177] [PUBMED:9060639] [PUBMED:16581947] [PUBMED:21040832] [PUBMED:17049016] [PUBMED:16036567] [PUBMED:21152115] [PUBMED:11160754] [PUBMED:21966251] [PUBMED:17457345] [PUBMED:8617242] [PUBMED:15956361] [PUBMED:9837909] [PUBMED:12925958] [PUBMED:17645777] [PUBMED:10873631] [PUBMED:15967719] [PUBMED:12686421] [PUBMED:18702816] [PUBMED:17979705] [PUBMED:9651361] [PUBMED:16459163] [PUBMED:11244044] [PUBMED:19956178] [PUBMED:21250384] [PUBMED:10354594] [PUBMED:15614436] [PUBMED:10824878] [PUBMED:11766888] [PUBMED:20494113] [PUBMED:17267064] [PUBMED:11886269] [PUBMED:11278402] [PUBMED:17894800] [PUBMED:11905817] [PUBMED:12186904] [PUBMED:21347341] [PUBMED:21177815] [PUBMED:12770701] [PUBMED:17384582] [PUBMED:14506283] [PUBMED:10400746] [PUBMED:11091847] [PUBMED:14559998] [PUBMED:9349482] [PUBMED:14747563] [PUBMED:21647825] [PUBMED:12970441] [PUBMED:15542638] [PUBMED:16352731] [PUBMED:19400863] [PUBMED:15795286] [PUBMED:22110506] [PUBMED:20534855] [PUBMED:14530271] [PUBMED:10405893] [PUBMED:9594662] [PUBMED:16308315] [PUBMED:15105524] [PUBMED:15342967] [PUBMED:18948197] [PUBMED:15452270] [PUBMED:11669605] [PUBMED:16828973] [PUBMED:10793105] [PUBMED:16760382] [PUBMED:10855768] [PUBMED:16381817] [PUBMED:22566809] [PUBMED:19651473] [PUBMED:16039586] [PUBMED:19078975] [PUBMED:8756622] [PUBMED:8223437] [PUBMED:11604508] [PUBMED:15692053] [PUBMED:16939421] [PUBMED:16155604] [PUBMED:11099494] [PUBMED:15919895] [PUBMED:10074132] [PUBMED:12379483] [PUBMED:21102637] [PUBMED:18385245] [PUBMED:16155601] [PUBMED:20592731] [PUBMED:19715458] [PUBMED:10644344] [PUBMED:19854353] [PUBMED:12101418] [PUBMED:9990017] [PUBMED:21421561] [PUBMED:18391203] [PUBMED:18251977] [PUBMED:21372216] [PUBMED:15510157] [PUBMED:9374493] [PUBMED:9343405] [PUBMED:19156753] [PUBMED:9882379] [PUBMED:15767449] [PUBMED:21994562] [PUBMED:21084867] [PUBMED:15310405] [PUBMED:12910250] [PUBMED:18201576] [PUBMED:21743832]