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
ENST00000542672.1
ENST00000366578.4

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]
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]
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:12598678] [PUBMED:17766183] [PUBMED:18837673] [PUBMED:16691243] [PUBMED:1616050]
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]
FCERI mediated MAPK activation [NCBI:1269299] [REACTOME:R-HSA-2871796] [PUBMED:19290926] [PUBMED:19909365] [PUBMED:17122878]
Fc epsilon receptor (FCERI) signaling [NCBI:1269298] [REACTOME:R-HSA-2454202] [PUBMED:15099567] [PUBMED:21799019]
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:17598937] [PUBMED:20975071] [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:19543225] [PUBMED:18062768]
Interleukin-3, 5 and GM-CSF signaling [NCBI:1269323] [REACTOME:R-HSA-512988] [PUBMED:10450743] [PUBMED:9766809]
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:21779496] [PUBMED:15520807] [PUBMED:16393692] [PUBMED:19520853] [PUBMED:17496910] [PUBMED:22569528]
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:16571882] [PUBMED:17766183] [PUBMED:10541305] [PUBMED:19649571] [PUBMED:10393930] [PUBMED:15994232]
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:8704248] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:17059469] [PUBMED:12681240] [PUBMED:12411949] [PUBMED:11511514]
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:24937142] [PUBMED:20674547] [PUBMED:17496910] [PUBMED:22177953] [PUBMED:17496919] [PUBMED:22569528] [PUBMED:22535895] [PUBMED:12068308] [PUBMED:17496923] [PUBMED:19091303] [PUBMED:21372320] [PUBMED:21388974] [PUBMED:15520807]
RET signaling [NCBI:1427866] [REACTOME:R-HSA-8853659] [PUBMED:15013219] [PUBMED:17036197]
Ras activation uopn Ca2+ infux through NMDA receptor [NCBI:1268802] [REACTOME:R-HSA-442982] [PUBMED:14622581]
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]
SOS-mediated signalling [NCBI:1269440] [REACTOME:R-HSA-112412]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by EGFR [NCBI:1269380] [REACTOME:R-HSA-177929] [PUBMED:10459005] [PUBMED:10404636] [PUBMED:12297041] [PUBMED:15142631]
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:22211890] [PUBMED:23562747] [PUBMED:20600241] [PUBMED:21622208] [PUBMED:23579596] [PUBMED:22458591] [PUBMED:21489811] [PUBMED:19724019] [PUBMED:21331644] [PUBMED:22448029] [PUBMED:21147620] [PUBMED:20198122] [PUBMED:21677426] [PUBMED:20029269] [PUBMED:22249808] [PUBMED:22991412] [PUBMED:21527729] [PUBMED:17937601] [PUBMED:20553370] [PUBMED:21713385] [PUBMED:23565489] [PUBMED:22289780]
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:17350321] [PUBMED:16483568] [PUBMED:7688988] [PUBMED:19540337] [PUBMED:16475976] [PUBMED:15526160]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959] [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:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]
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:17344076] [PUBMED:16633338] [PUBMED:19230644] [PUBMED:13678960]
VEGFR2 mediated cell proliferation [NCBI:1269485] [REACTOME:R-HSA-5218921] [PUBMED:22866201] [PUBMED:22180219] [PUBMED:22762016]