Gene table of KITLG : KIT ligand

Gene-disease associations table

Disease IDDisease nameSource of annotation with KITLGOMIM linkNumber of associated genesgenes
145250HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 1KITLG
PS227220SKIN/HAIR/EYE PIGMENTATION, VARIATION INClinVar, OMIM link to OMIM 12SLC24A5, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC45A2, OCA2
PS124900DEAFNESS, AUTOSOMAL DOMINANTOMIM link to OMIM 33GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

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Annotation of the gene KITLG

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
Pathways in cancerhsa052003.98
Rap1 signaling pathwayhsa040154.97
Ras signaling pathwayhsa040144.9
Melanogenesishsa049165.97
Hematopoietic cell lineagehsa046406.18
Cytokine-cytokine receptor interactionhsa040604.67
PI3K-Akt signaling pathwayhsa041514.21
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
NCAM signaling for neurite out-growthR-HSA-3751654.9
PI3K/AKT activationR-HSA-1982036.32
Signaling by InterleukinsR-HSA-4491474.71
PI3K events in ERBB4 signalingR-HSA-12503426.37
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
Signaling by LeptinR-HSA-25865525.1
Constitutive Signaling by Aberrant PI3K in CancerR-HSA-22195307.05
PI3K events in ERBB2 signalingR-HSA-19636426.37
Cytokine Signaling in Immune systemR-HSA-12802153.74
IGF1R signaling cascadeR-HSA-24289244.85
Downstream signal transductionR-HSA-1867634.65
GAB1 signalosomeR-HSA-1802926.31
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
DiseaseR-HSA-16436853.33
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.95
Downstream signaling of activated FGFR1R-HSA-56546874.71
MAPK family signaling cascadesR-HSA-56830574.89
PIP3 activates AKT signalingR-HSA-12576046.37
PI-3K cascade:FGFR3R-HSA-56547106.37
Signaling by VEGFR-HSA-1941384.66
Signalling to p38 via RIT and RINR-HSA-1877065.12
PI-3K cascade:FGFR1R-HSA-56546896.37
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
Developmental BiologyR-HSA-12667383.48
Signaling by Insulin receptorR-HSA-747524.73
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.59
Downstream signaling of activated FGFR3R-HSA-56547084.71
RAF/MAP kinase cascadeR-HSA-56730015.15
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
Regulation of KIT signalingR-HSA-14335598.98
Signaling by FGFRR-HSA-1902364.67
PI3K/AKT Signaling in CancerR-HSA-22195286.56
Diseases of signal transductionR-HSA-56632024.89
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
PI-3K cascade:FGFR2R-HSA-56546956.37
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
Signalling by NGFR-HSA-1665204.23
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
Frs2-mediated activationR-HSA-1709685.12
PI-3K cascade:FGFR4R-HSA-56547206.37
DAP12 interactionsR-HSA-21721274.56
Interleukin receptor SHC signalingR-HSA-9125265.09
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
phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469345.61
Ras guanyl-nucleotide exchange factor activityGO:00050884.31
cytokine receptor bindingGO:00051264.14
cytokine activityGO:00051254.34
growth factor activityGO:00080834.66
protein bindingGO:00055150.46
catalytic activityGO:00038241.05
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
stem cell factor receptor bindingGO:00051738.64
kinase activityGO:00163012.93
guanyl-nucleotide exchange factor activityGO:00050854.02
phosphatidylinositol bisphosphate kinase activityGO:00528135.56
transferase activityGO:00167401.95
bindingGO:00054880.18
phosphatidylinositol 3-kinase activityGO:00350045.49
receptor bindingGO:00051022.43
molecular function regulatorGO:00987722.51