Gene Gene information from NCBI Gene database.
Entrez ID 867
Gene name Cbl proto-oncogene
Gene symbol CBL
Synonyms (NCBI Gene)
C-CBLCBL2FRA11BNSLLRNF55
Chromosome 11
Chromosome location 11q23.3
Summary This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin con
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs143264567 A>C,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs143840974 G>A,C Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, synonymous variant
rs150811339 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs199788586 A>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs267606704 A>C,G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1407
miRTarBase ID miRNA Experiments Reference
MIRT051757 hsa-let-7c-5p CLASH 23622248
MIRT050866 hsa-miR-17-5p CLASH 23622248
MIRT054868 hsa-miR-150-5p Luciferase reporter assayMicroarrayqRT-PCR 23604034
MIRT437868 hsa-miR-98-5p MicroarrayqRT-PCRWestern blot 23434382
MIRT437868 hsa-miR-98-5p MicroarrayqRT-PCRWestern blot 23434382
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
81
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity TAS 15465819
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165360 1541 ENSG00000110395
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22681
Protein name E3 ubiquitin-protein ligase CBL (EC 2.3.2.27) (Casitas B-lineage lymphoma proto-oncogene) (Proto-oncogene c-Cbl) (RING finger protein 55) (RING-type E3 ubiquitin transferase CBL) (Signal transduction protein CBL)
Protein function E3 ubiquitin-protein ligase that acts as a negative regulator of many signaling pathways by mediating ubiquitination of cell surface receptors (PubMed:10514377, PubMed:11896602, PubMed:14661060, PubMed:14739300, PubMed:15190072, PubMed:17509076,
PDB 1B47 , 1FBV , 1YVH , 2CBL , 2JUJ , 2K4D , 2OO9 , 2Y1M , 2Y1N , 3BUM , 3BUN , 3BUO , 3BUW , 3BUX , 3OB1 , 3OB2 , 3PLF , 4A49 , 4A4B , 4A4C , 4GPL , 5HKW , 5HKX , 5HKY , 5HKZ , 5HL0 , 5J3X , 5O76 , 6O02 , 6O03 , 6XAR , 7SIY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02262 Cbl_N 51 175 CBL proto-oncogene N-terminal domain 1 Domain
PF02761 Cbl_N2 179 262 CBL proto-oncogene N-terminus, EF hand-like domain Domain
PF02762 Cbl_N3 264 349 CBL proto-oncogene N-terminus, SH2-like domain Domain
PF14447 Prok-RING_4 381 434 Family
PF00627 UBA 856 892 UBA/TS-N domain Domain
Sequence
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCW
KLMDKVVRLCQNPKLALKNSPPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFME
NLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSHMLAELKGIFPSGLFQ
GDTFR
ITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFE
FDIFTRLFQPWSSLLRNWNSLA
VTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRL
GQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDL
TGLCEPTPQDH
IKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCR
CEIKGTEPIVVDPF
DPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVER
PPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLR
DLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPV
SAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDTSMSMNSSPLVGPECD
HPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRAC
DCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPP
VPAVLARRTLSDISNASSSFGWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSC
QQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVIAQNNIEMAKNILREFVSISS
PAHVAT
Sequence length 906
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ErbB signaling pathway
Ubiquitin mediated proteolysis
Endocytosis
Insulin signaling pathway
Bacterial invasion of epithelial cells
Pathways in cancer
Proteoglycans in cancer
Chronic myeloid leukemia
  Interleukin-6 signaling
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
Spry regulation of FGF signaling
Regulation of KIT signaling
EGFR downregulation
TGF-beta receptor signaling activates SMADs
Constitutive Signaling by EGFRvIII
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
Negative regulation of MET activity
PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
InlB-mediated entry of Listeria monocytogenes into host cell
Regulation of signaling by CBL
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2401
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic; Pathogenic rs397517076, rs1592400784 RCV005889981
RCV005906931
Cardiovascular phenotype Likely pathogenic; Pathogenic rs727504426, rs397517076, rs2496939296, rs267606706 RCV005791822
RCV005532590
RCV002453119
RCV005791808
CBL-related disorder Likely pathogenic; Pathogenic rs2135301614, rs727504426, rs397517076, rs267606706, rs267606704, rs267606707, rs2496939189, rs397507489, rs1555230070, rs387906666, rs397517077, rs1592400784 RCV002274444
RCV001808423
RCV001249230
RCV001814073
RCV003314050
RCV001353389
RCV004576900
RCV001527385
RCV004536931
RCV000984977
RCV000627092
RCV000660642
RCV002482996
RCV000038347
RCV000850538
Fragile site 11b Pathogenic rs397517076 RCV001249230
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia with NPM1 somatic mutations Uncertain significance rs2496938228 RCV006254352
B lymphoblastic leukemia lymphoma with hyperdiploidy Uncertain significance rs143034856 RCV000761157
Central nervous system germ cell tumor Conflicting classifications of pathogenicity rs1303812580 RCV006254312
Cervical cancer Benign rs2276083 RCV005901588
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 17003487
Anemia Refractory Associate 20678218
Arthritis Rheumatoid Associate 40594127
Autoimmune Diseases Associate 30807392
Autoimmune Lymphoproliferative Syndrome Associate 30807392
Bone Diseases Associate 30674869
Breast Neoplasms Associate 17255943, 27842510, 28415719, 29145193, 29498809
Calcinosis Cutis Associate 35940046
Carcinogenesis Associate 23621189, 27244893, 30355600
Carcinoma Hepatocellular Associate 22860012, 26474280, 31976317, 36749775