Gene table of NEFL : neurofilament, light polypeptide

Gene-disease associations table

Disease IDDisease nameSource of annotation with NEFLOMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS

Download the gene annotation in CSV format

Annotation of the gene NEFL

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Amyotrophic lateral sclerosis (ALS)hsa050147.01
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
CREB phosphorylation through the activation of CaMKIIR-HSA-4427299.08
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
NCAM signaling for neurite out-growthR-HSA-3751654.9
Signaling by InterleukinsR-HSA-4491474.71
Post NMDA receptor activation eventsR-HSA-4380647.85
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
Unblocking of NMDA receptor, glutamate binding and activationR-HSA-4380668.89
Ras activation uopn Ca2+ infux through NMDA receptorR-HSA-4429828.89
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
CREB phosphorylation through the activation of RasR-HSA-4427428.23
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
FCERI mediated MAPK activationR-HSA-28717964.32
Signaling by EGFRR-HSA-1779294.59
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
Neuronal SystemR-HSA-1123164.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellR-HSA-1123145.85
Transmission across Chemical SynapsesR-HSA-1123155.28
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
Signaling by FGFRR-HSA-1902364.67
Downstream signaling of activated FGFR3R-HSA-56547084.71
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
Immune SystemR-HSA-1682562.37
Downstream signaling of activated FGFR4R-HSA-56547164.71
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
Activation of NMDA receptor upon glutamate binding and postsynaptic eventsR-HSA-4427557.7
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
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
DAP12 interactionsR-HSA-21721274.56
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
Downstream signal transductionR-HSA-1867634.65
Associated GO terms for Molecular function
GO termGO IDGO IC
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
protein binding, bridgingGO:00306744.68
structural constituent of cytoskeletonGO:00052005.12
guanyl-nucleotide exchange factor activityGO:00050854.02
protein C-terminus bindingGO:00080224.5
enzyme bindingGO:00198992.27
structural molecule activityGO:00051983.1
molecular function regulatorGO:00987722.51
identical protein bindingGO:00428022.63
phospholipase bindingGO:00432746.91
bindingGO:00054880.18
protein bindingGO:00055150.46
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
protein domain specific bindingGO:00199043.32
binding, bridgingGO:00600904.57