Gene table of VCL : vinculin

Gene-disease associations table

Disease IDDisease nameSource of annotation with VCLOMIM 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
603829VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1ClinVar link to OMIM 13DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
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 VCL

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
Shigellosishsa051316.74
Bacterial invasion of epithelial cellshsa051006.34
Leukocyte transendothelial migrationhsa046705.74
Amoebiasishsa051465.82
Focal adhesionhsa045104.92
Adherens junctionhsa045206.26
Regulation of actin cytoskeletonhsa048104.9
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.85
FCERI mediated MAPK activationR-HSA-28717964.32
Platelet degranulation R-HSA-1146086.68
Signaling by InterleukinsR-HSA-4491474.71
Muscle contractionR-HSA-3970146.96
Immune SystemR-HSA-1682562.37
Frs2-mediated activationR-HSA-1709685.12
MAP2K and MAPK activationR-HSA-56741357.66
Cytokine Signaling in Immune systemR-HSA-12802153.74
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
IRS-related events triggered by IGF1RR-HSA-24289284.85
Signaling by ERBB4R-HSA-12363944.7
DAP12 interactionsR-HSA-21721274.56
MAPK1/MAPK3 signalingR-HSA-56849965.11
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
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
Response to elevated platelet cytosolic Ca2+R-HSA-760056.59
IRS-mediated signallingR-HSA-1123994.87
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
Downstream signaling of activated FGFR3R-HSA-56547084.71
Insulin receptor signalling cascadeR-HSA-747514.85
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
Signaling by FGFRR-HSA-1902364.67
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Interleukin-2 signalingR-HSA-4519275.05
Signaling by ERBB2R-HSA-12279864.66
Interleukin receptor SHC signalingR-HSA-9125265.09
Innate Immune SystemR-HSA-1682493.17
Signaling by SCF-KITR-HSA-14335574.73
SHC1 events in ERBB2 signalingR-HSA-12501965.15
NCAM signaling for neurite out-growthR-HSA-3751654.9
Signalling to RASR-HSA-1670445.08
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
Downstream signaling of activated FGFR2R-HSA-56546964.71
SHC1 events in ERBB4 signalingR-HSA-12503475.15
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
Signaling by LeptinR-HSA-25865525.1
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
Signaling by FGFR1R-HSA-56547364.69
Signaling by EGFRR-HSA-1779294.59
ARMS-mediated activationR-HSA-1709845.12
FRS-mediated FGFR4 signalingR-HSA-56547125.14
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by PDGFR-HSA-1867974.53
Axon guidanceR-HSA-4224753.93
VEGFR2 mediated cell proliferationR-HSA-52189215.07
Smooth Muscle ContractionR-HSA-4453558.23
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
beta-catenin bindingGO:00080135.3
glycoprotein bindingGO:00019485.11
enzyme bindingGO:00198992.27
ubiquitin protein ligase bindingGO:00316254.17
ubiquitin-like protein ligase bindingGO:00443894.15
cadherin bindingGO:00452966.41
cytoskeletal protein bindingGO:00080923.02
carbohydrate derivative bindingGO:00973672.03
alpha-catenin bindingGO:00452947.44
actin filament bindingGO:00510154.93
structural molecule activityGO:00051983.1
actin bindingGO:00037793.74
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
protein bindingGO:00055150.46
protein complex bindingGO:00324033.09
cell adhesion molecule bindingGO:00508394.5
dystroglycan bindingGO:00021627.54