Gene table of ACTN2 : actinin alpha 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with ACTN2OMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
PS192600CARDIOMYOPATHY, FAMILIAL HYPERTROPHICClinVar, OMIM, HUMSAVAR link to OMIM 25CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3

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Annotation of the gene ACTN2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Systemic lupus erythematosushsa053225.95
Viral carcinogenesishsa052035.08
Tight junctionhsa045305.53
Leukocyte transendothelial migrationhsa046705.74
Amoebiasishsa051465.82
Focal adhesionhsa045104.92
Adherens junctionhsa045206.26
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Regulation of actin cytoskeletonhsa048104.9
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
CREB phosphorylation through the activation of CaMKIIR-HSA-4427299.08
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
NCAM signaling for neurite out-growthR-HSA-3751654.9
Platelet degranulation R-HSA-1146086.68
Signaling by InterleukinsR-HSA-4491474.71
Muscle contractionR-HSA-3970146.96
Post NMDA receptor activation eventsR-HSA-4380647.85
Signaling by LeptinR-HSA-25865525.1
Frs2-mediated activationR-HSA-1709685.12
Cytokine Signaling in Immune systemR-HSA-12802153.74
IGF1R signaling cascadeR-HSA-24289244.85
Unblocking of NMDA receptor, glutamate binding and activationR-HSA-4380668.89
Ras activation uopn Ca2+ infux through NMDA receptorR-HSA-4429828.89
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by ERBB4R-HSA-12363944.7
IRS-mediated signallingR-HSA-1123994.87
MAPK1/MAPK3 signalingR-HSA-56849965.11
CREB phosphorylation through the activation of RasR-HSA-4427428.23
Developmental BiologyR-HSA-12667383.48
RAF/MAP kinase cascadeR-HSA-56730015.15
Downstream signaling of activated FGFR1R-HSA-56546874.71
MAPK family signaling cascadesR-HSA-56830574.89
Signalling by NGFR-HSA-1665204.23
Signaling by VEGFR-HSA-1941384.66
Signalling to p38 via RIT and RINR-HSA-1877065.12
Platelet activation, signaling and aggregationR-HSA-760025.15
FCERI mediated MAPK activationR-HSA-28717964.32
Response to elevated platelet cytosolic Ca2+R-HSA-760056.59
Signaling by EGFRR-HSA-1779294.59
FRS-mediated FGFR2 signalingR-HSA-56547005.14
SOS-mediated signallingR-HSA-1124125.15
FRS-mediated FGFR3 signalingR-HSA-56547065.14
Signaling by Insulin receptorR-HSA-747524.73
Neuronal SystemR-HSA-1123164.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.85
Transmission across Chemical SynapsesR-HSA-1123155.28
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Interleukin receptor SHC signalingR-HSA-9125265.09
Signaling by FGFRR-HSA-1902364.67
Downstream signaling of activated FGFR3R-HSA-56547084.71
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Immune SystemR-HSA-1682562.37
Downstream signaling of activated FGFR4R-HSA-56547164.71
Innate Immune SystemR-HSA-1682493.17
Signaling by SCF-KITR-HSA-14335574.73
Interleukin-2 signalingR-HSA-4519275.05
SHC1 events in ERBB2 signalingR-HSA-12501965.15
Signaling by ERBB2R-HSA-12279864.66
Signalling to RASR-HSA-1670445.08
Striated Muscle ContractionR-HSA-3905227.81
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
Activation of NMDA receptor upon glutamate binding and postsynaptic eventsR-HSA-4427557.7
Downstream signaling of activated FGFR2R-HSA-56546964.71
Signaling by FGFR1R-HSA-56547364.69
SHC1 events in EGFR signalingR-HSA-1803365.15
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
FRS-mediated FGFR1 signalingR-HSA-56546935.14
Prolonged ERK activation eventsR-HSA-1698935.11
Cell-Cell communicationR-HSA-15009315.87
FRS-mediated FGFR4 signalingR-HSA-56547125.14
Signaling by GPCRR-HSA-3727902.68
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signalling to ERKsR-HSA-1876875.04
Insulin receptor signalling cascadeR-HSA-747514.85
ARMS-mediated activationR-HSA-1709845.12
DAP12 interactionsR-HSA-21721274.56
Nephrin interactionsR-HSA-3737538.46
SHC1 events in ERBB4 signalingR-HSA-12503475.15
Signaling by PDGFR-HSA-1867974.53
Axon guidanceR-HSA-4224753.93
VEGFR2 mediated cell proliferationR-HSA-52189215.07
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Downstream signal transductionR-HSA-1867634.65
Associated GO terms for Molecular function
GO termGO IDGO IC
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
actin bindingGO:00037793.74
guanyl-nucleotide exchange factor activityGO:00050854.02
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
GO:00108618.13
ion channel bindingGO:00443255.02
structural molecule activityGO:00051983.1
titin bindingGO:00314327.25
molecular function regulatorGO:00987722.51
receptor regulator activityGO:00305455.91
receptor activator activityGO:00305466.27
phospholipid bindingGO:00055433.91
transcription coactivator activityGO:00037134.04
transcription cofactor activityGO:00037123.44
phosphatidylinositol-4,5-bisphosphate bindingGO:00055465.81
ion bindingGO:00431671.36
phosphatidylinositol bisphosphate bindingGO:19029365.79
calcium ion bindingGO:00055093.17
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
protein complex bindingGO:00324033.09
metal ion bindingGO:00468721.41
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
integrin bindingGO:00051785.07
cation bindingGO:00431691.4
titin Z domain bindingGO:00700809.05
lipid bindingGO:00082893.26
actin filament bindingGO:00510154.93
ligand-dependent nuclear receptor transcription coactivator activityGO:00303745.77
structural constituent of muscleGO:00083076.02
GO:00303758.13
GO:00302747.95
phosphatidylinositol phosphate bindingGO:19019815.05
cell adhesion molecule bindingGO:00508394.5
receptor bindingGO:00051022.43
cytoskeletal protein bindingGO:00080923.02
phosphatidylinositol bindingGO:00350914.47
FATZ bindingGO:00513738.64
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
protein domain specific bindingGO:00199043.32