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
OMIM:618654:
Myopathy, congenital with structured cores and Z-line abnormalities
OMIM:618655:
Myopathy, distal, 6, adult onset
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]
