Gene table of SPTBN2 : spectrin beta, non-erythrocytic 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with SPTBN2OMIM linkNumber of associated genesgenes
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 31ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2
615386SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14ClinVar, OMIM link to OMIM 1SPTBN2

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Annotation of the gene SPTBN2

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
MHC class II antigen presentationR-HSA-21322956.01
Immune SystemR-HSA-1682562.37
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
IRS-mediated signallingR-HSA-1123994.87
MAPK1/MAPK3 signalingR-HSA-56849965.11
Adaptive Immune SystemR-HSA-12802183.19
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
Signaling by InterleukinsR-HSA-4491474.71
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
DAP12 interactionsR-HSA-21721274.56
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
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
GRB2 events in ERBB2 signalingR-HSA-19636405.15
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
cytoskeletal protein bindingGO:00080923.02
phospholipid bindingGO:00055433.91
guanyl-nucleotide exchange factor activityGO:00050854.02
lipid bindingGO:00082893.26
structural molecule activityGO:00051983.1
actin bindingGO:00037793.74
bindingGO:00054880.18
protein bindingGO:00055150.46
molecular function regulatorGO:00987722.51