Gene table of SPTA1 : spectrin alpha, erythrocytic 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SPTA1OMIM linkNumber of associated genesgenes
130600ELLIPTOCYTOSIS 2ClinVar, OMIM, HUMSAVAR link to OMIM 1SPTA1
266140PYROPOIKILOCYTOSIS, HEREDITARYClinVar, OMIM, HUMSAVAR link to OMIM 2SPTA1, SPTB
270970SPHEROCYTOSIS, TYPE 3ClinVar, OMIM link to OMIM 1SPTA1

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Annotation of the gene SPTA1

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
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
Signaling by InterleukinsR-HSA-4491474.71
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
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
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
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
Interaction between L1 and AnkyrinsR-HSA-4450958.03
L1CAM interactionsR-HSA-3737606.19
Signaling by FGFRR-HSA-1902364.67
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Immune SystemR-HSA-1682562.37
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
Interleukin-2 signalingR-HSA-4519275.05
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 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
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
cytoskeletal protein bindingGO:00080923.02
protein heterodimerization activityGO:00469823.64
guanyl-nucleotide exchange factor activityGO:00050854.02
cation bindingGO:00431691.4
actin filament bindingGO:00510154.93
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
protein complex bindingGO:00324033.09
protein dimerization activityGO:00469832.72
structural molecule activityGO:00051983.1
calcium ion bindingGO:00055093.17