Gene table of CBL : Cbl proto-oncogene

Gene-disease associations table

Disease IDDisease nameSource of annotation with CBLOMIM linkNumber of associated genesgenes
613563NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIAClinVar, OMIM, HUMSAVAR link to OMIM 1CBL
607785JUVENILE MYELOMONOCYTIC LEUKEMIAClinVar link to OMIM 8MLLT11, NF1, ARHGAP26, KRAS, SETBP1, PTPN11, CBL, NRAS

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Annotation of the gene CBL

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
Bacterial invasion of epithelial cellshsa051006.34
Proteoglycans in cancerhsa052055.02
Chronic myeloid leukemiahsa052206.48
Pathways in cancerhsa052003.98
Jak-STAT signaling pathwayhsa046305.44
T cell receptor signaling pathwayhsa046606.01
Insulin signaling pathwayhsa049105.55
Endocytosishsa041444.92
Ubiquitin mediated proteolysishsa041205.63
ErbB signaling pathwayhsa040126.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by InterleukinsR-HSA-4491474.71
Immune SystemR-HSA-1682562.37
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
Cytokine Signaling in Immune systemR-HSA-12802153.74
Adaptive Immune SystemR-HSA-12802183.19
DiseaseR-HSA-16436853.33
Regulation of signaling by CBLR-HSA-9126318.52
Negative regulation of FGFR1 signalingR-HSA-56547267.98
Negative regulation of FGFR2 signalingR-HSA-56547277.89
Signaling by Ligand-Responsive EGFR Variants in CancerR-HSA-56378158.73
Constitutive Signaling by EGFRvIIIR-HSA-56378109.08
Signaling by EGFRvIII in CancerR-HSA-56378129.08
Signaling by EGFR in CancerR-HSA-16437138.73
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
Regulation of KIT signalingR-HSA-14335598.98
Signaling by FGFRR-HSA-1902364.67
Spry regulation of FGF signalingR-HSA-12955969.18
Diseases of signal transductionR-HSA-56632024.89
Signaling by TGF-beta Receptor ComplexR-HSA-1708346.81
Signaling by SCF-KITR-HSA-14335574.73
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.99
Constitutive Signaling by Ligand-Responsive EGFR Cancer VariantsR-HSA-12363828.73
Signaling by EGFRR-HSA-1779294.59
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersR-HSA-9836955.6
Interleukin-6 signalingR-HSA-10596839.52
EGFR downregulationR-HSA-1829718.28
Signaling by FGFR2R-HSA-56547384.68
Signaling by FGFR1R-HSA-56547364.69
Negative regulation of FGFR4 signalingR-HSA-56547338.03
Negative regulation of FGFR3 signalingR-HSA-56547328.12
TGF-beta receptor signaling activates SMADsR-HSA-21737897.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
SH3 domain bindingGO:00171244.98
enzyme bindingGO:00198992.27
zinc ion bindingGO:00082702.66
signal transducer activityGO:00048712.28
protein phosphorylated amino acid bindingGO:00453096.56
ubiquitin protein ligase activityGO:00616304.47
ubiquitin-like protein transferase activityGO:00197873.69
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
ligase activityGO:00168743.72
ion bindingGO:00431671.36
transferase activityGO:00167401.95
calcium ion bindingGO:00055093.17
metal ion bindingGO:00468721.41
ephrin receptor bindingGO:00468756.56
phosphotyrosine bindingGO:00017847.03
protein kinase bindingGO:00199013.44
catalytic activityGO:00038241.05
protein domain specific bindingGO:00199043.32
ubiquitin-protein transferase activityGO:00048423.73
ubiquitin-like protein ligase activityGO:00616594.44
kinase bindingGO:00199003.32
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
phosphoprotein bindingGO:00512195.64
protein bindingGO:00055150.46
receptor bindingGO:00051022.43
nucleic acid binding transcription factor activityGO:00010712.65