Gene table of SPTAN1 : spectrin alpha, non-erythrocytic 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SPTAN1OMIM linkNumber of associated genesgenes
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM link to OMIM 37KCNT1, EEF1A2, SZT2, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, GRIN2B, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, SCN8A, NECAP1, PIGA

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Annotation of the gene SPTAN1

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
Tight junctionhsa045305.53
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
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
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by InterleukinsR-HSA-4491474.71
Signaling by LeptinR-HSA-25865525.1
Frs2-mediated activationR-HSA-1709685.12
Apoptotic execution phaseR-HSA-751537.28
Programmed Cell DeathR-HSA-53578015.65
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
NCAM signaling for neurite out-growthR-HSA-3751654.9
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
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
Apoptotic cleavage of cellular proteinsR-HSA-1114657.73
Signalling to p38 via RIT and RINR-HSA-1877065.12
FCERI mediated MAPK activationR-HSA-28717964.32
Signaling by EGFRR-HSA-1779294.59
Nephrin interactionsR-HSA-3737538.46
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
Cell-Cell communicationR-HSA-15009315.87
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
L1CAM interactionsR-HSA-3737606.19
Signaling by FGFRR-HSA-1902364.67
Caspase-mediated cleavage of cytoskeletal proteinsR-HSA-2648709.4
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Immune SystemR-HSA-1682562.37
Interaction between L1 and AnkyrinsR-HSA-4450958.03
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
DAP12 signalingR-HSA-24244914.64
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
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
Cytokine Signaling in Immune systemR-HSA-12802153.74
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
Signaling by VEGFR-HSA-1941384.66
DAP12 interactionsR-HSA-21721274.56
ApoptosisR-HSA-1095815.68
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
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
structural constituent of cytoskeletonGO:00052005.12
protein bindingGO:00055150.46
protein N-terminus bindingGO:00474855.11
cytoskeletal protein bindingGO:00080923.02
SNARE bindingGO:00001494.87
guanyl-nucleotide exchange factor activityGO:00050854.02
cation bindingGO:00431691.4
ion bindingGO:00431671.36
actin bindingGO:00037793.74
metal ion bindingGO:00468721.41
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
molecular function regulatorGO:00987722.51
calmodulin bindingGO:00055164.55
protein complex bindingGO:00324033.09
syntaxin bindingGO:00199055.19
structural molecule activityGO:00051983.1
calcium ion bindingGO:00055093.17