Gene table of ACTB : actin beta

Gene-disease associations table

Disease IDDisease nameSource of annotation with ACTBOMIM linkNumber of associated genesgenes
607371DYSTONIA, JUVENILE-ONSETClinVar, OMIM, HUMSAVAR link to OMIM 1ACTB
PS243310BARAITSER-WINTER SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2ACTG1, ACTB

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Annotation of the gene ACTB

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
Salmonella infectionhsa051326.29
Shigellosishsa051316.74
Pathogenic Escherichia coli infectionhsa051306.99
Platelet activationhsa046115.66
Tight junctionhsa045305.53
Leukocyte transendothelial migrationhsa046705.74
Phagosomehsa041455.27
Focal adhesionhsa045104.92
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.32
Dilated cardiomyopathyhsa054146.08
Viral myocarditishsa054166.45
Oxytocin signaling pathwayhsa049215.4
Influenza Ahsa051645.21
Bacterial invasion of epithelial cellshsa051006.34
Proteoglycans in cancerhsa052055.02
Rap1 signaling pathwayhsa040154.97
Adherens junctionhsa045206.26
Hippo signaling pathwayhsa043905.37
Thyroid hormone signaling pathwayhsa049195.82
Regulation of actin cytoskeletonhsa048104.9
Gastric acid secretionhsa049716.48
Vibrio cholerae infectionhsa051106.86
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Interleukin-2 signalingR-HSA-4519275.05
Recycling pathway of L1R-HSA-4372397.62
Cell-Cell communicationR-HSA-15009315.87
Developmental BiologyR-HSA-12667383.48
Signaling by VEGFR-HSA-1941384.66
FCERI mediated MAPK activationR-HSA-28717964.32
IRS-mediated signallingR-HSA-1123994.87
Chromatin modifying enzymesR-HSA-32475095.19
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
L1CAM interactionsR-HSA-3737606.19
Metabolism of proteinsR-HSA-3924993.41
Translocation of GLUT4 to the plasma membraneR-HSA-14451486.77
Gap junction trafficking and regulationR-HSA-1578587.52
Signaling by EGFRR-HSA-1779294.59
Vesicle-mediated transportR-HSA-56536564.33
EPH-ephrin mediated repulsion of cellsR-HSA-39286657.34
EPHB-mediated forward signalingR-HSA-39286627.62
DAP12 interactionsR-HSA-21721274.56
Chromatin organizationR-HSA-48397265.19
Formation of annular gap junctionsR-HSA-1960259.52
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by ERBB2R-HSA-12279864.66
VEGFR2 mediated cell proliferationR-HSA-52189215.07
Immune SystemR-HSA-1682562.37
Frs2-mediated activationR-HSA-1709685.12
Folding of actin by CCT/TriCR-HSA-3904509.81
Downstream signal transductionR-HSA-1867634.65
RAF/MAP kinase cascadeR-HSA-56730015.15
Signalling to p38 via RIT and RINR-HSA-1877065.12
Cell-cell junction organizationR-HSA-4212707.03
FRS-mediated FGFR2 signalingR-HSA-56547005.14
FRS-mediated FGFR4 signalingR-HSA-56547125.14
FRS-mediated FGFR3 signalingR-HSA-56547065.14
Downstream signaling of activated FGFR3R-HSA-56547084.71
RHO GTPases activate IQGAPsR-HSA-56264678.34
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Interleukin receptor SHC signalingR-HSA-9125265.09
Innate Immune SystemR-HSA-1682493.17
Cell junction organizationR-HSA-4467286.51
Gap junction degradationR-HSA-1908739.4
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
Prolonged ERK activation eventsR-HSA-1698935.11
Signaling by FGFR2R-HSA-56547384.68
GRB2 events in EGFR signalingR-HSA-1798125.15
Signaling by FGFR1R-HSA-56547364.69
Axon guidanceR-HSA-4224753.93
Signaling by LeptinR-HSA-25865525.1
MAP2K and MAPK activationR-HSA-56741357.66
IGF1R signaling cascadeR-HSA-24289244.85
IRS-related events triggered by IGF1RR-HSA-24289284.85
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.88
Signaling by Insulin receptorR-HSA-747524.73
Insulin receptor signalling cascadeR-HSA-747514.85
Downstream signaling of activated FGFR1R-HSA-56546874.71
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
HATs acetylate histonesR-HSA-32148476.23
Fcgamma receptor (FCGR) dependent phagocytosisR-HSA-20294805.07
Regulation of actin dynamics for phagocytic cup formationR-HSA-20294825.23
GRB2 events in ERBB2 signalingR-HSA-19636405.15
Signalling to RASR-HSA-1670445.08
Downstream signaling of activated FGFR2R-HSA-56546964.71
SHC1 events in ERBB4 signalingR-HSA-12503475.15
SHC1 events in EGFR signalingR-HSA-1803365.15
FRS-mediated FGFR1 signalingR-HSA-56546935.14
SHC1 events in ERBB2 signalingR-HSA-12501965.15
ARMS-mediated activationR-HSA-1709845.12
Cell-extracellular matrix interactionsR-HSA-4463538.81
Signaling by PDGFR-HSA-1867974.53
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
RHO GTPases Activate WASPs and WAVEsR-HSA-56632137.85
Signaling by InterleukinsR-HSA-4491474.71
Signaling by Rho GTPasesR-HSA-1943154.43
Cytokine Signaling in Immune systemR-HSA-12802153.74
SOS-mediated signallingR-HSA-1124125.15
Signaling by ERBB4R-HSA-12363944.7
Adherens junctions interactionsR-HSA-4189907.98
MAPK1/MAPK3 signalingR-HSA-56849965.11
MAPK family signaling cascadesR-HSA-56830574.89
Signalling by NGFR-HSA-1665204.23
Gap junction traffickingR-HSA-1908287.59
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
RHO GTPases Activate ForminsR-HSA-56632206.01
Signaling by FGFRR-HSA-1902364.67
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingR-HSA-3899588.23
Prefoldin mediated transfer of substrate to CCT/TriCR-HSA-3899578.28
Interaction between L1 and AnkyrinsR-HSA-4450958.03
Signaling by SCF-KITR-HSA-14335574.73
Membrane TraffickingR-HSA-1999915.26
NCAM signaling for neurite out-growthR-HSA-3751654.9
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
EPH-Ephrin signalingR-HSA-26823346.43
Chaperonin-mediated protein foldingR-HSA-3904667.4
RHO GTPase EffectorsR-HSA-1952584.94
Protein foldingR-HSA-3912517.23
Signaling by GPCRR-HSA-3727902.68
Signalling to ERKsR-HSA-1876875.04
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
kinesin bindingGO:00198946.24
structural constituent of cytoskeletonGO:00052005.12
purine ribonucleoside triphosphate bindingGO:00356392.22
RNA polymerase II regulatory region DNA bindingGO:00010123.36
enzyme bindingGO:00198992.27
enhancer sequence-specific DNA bindingGO:00011585.36
nucleosome bindingGO:00314915.95
chromatin DNA bindingGO:00314905.37
nucleosomal DNA bindingGO:00314926.37
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
structural molecule activityGO:00051983.1
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
Tat protein bindingGO:00309577.66
sequence-specific DNA bindingGO:00435652.79
structure-specific DNA bindingGO:00435664.98
sequence-specific double-stranded DNA bindingGO:19908373.2
ATP bindingGO:00055242.43
nucleotide bindingGO:00001661.96
identical protein bindingGO:00428022.63
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
protein complex bindingGO:00324033.09
purine nucleotide bindingGO:00170762.19
double-stranded DNA bindingGO:00036903.09
core promoter proximal region DNA bindingGO:00011593.82
RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009805.58
transcription regulatory region DNA bindingGO:00442123.03
transcription factor bindingGO:00081343.46
regulatory region nucleic acid bindingGO:00010673.03
small molecule bindingGO:00360941.89
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
enhancer bindingGO:00353265.21
nitric-oxide synthase bindingGO:00509986.91
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
cytoskeletal protein bindingGO:00080923.02
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl nucleotide bindingGO:00305542.4
adenyl ribonucleotide bindingGO:00325592.41
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
purine ribonucleotide bindingGO:00325552.2
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
chromatin bindingGO:00036823.64
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19