Gene: CBL

Alternate names for this Gene: C-CBL|CBL2|FRA11B|NSLL|RNF55

Gene 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 conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: Cbl proto-oncogene

Type of Gene: protein-coding

rs397517076 in CBL gene and Dysmorphic features PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.

PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.

PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

rs267606706 in CBL gene and Hematologic Neoplasms PMID 23696637 2013 CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.

rs727504426 in CBL gene and Juvenile Myelomonocytic Leukemia PMID 19571318 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

PMID 20955399 2010 Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 21901340 2012 Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

rs1047417 in CBL gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs397517076 in CBL gene and Movement Disorders PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

rs397517076 in CBL gene and Noonan Syndrome PMID 19571318 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

PMID 25358541 2015 Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

PMID 20595524 2010 Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 23823657 2013 In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

PMID 21901340 2012 Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

PMID 20955399 2010 Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 19620960 2009 Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

PMID 20644105 2010 Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1.

rs11217191 in CBL gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs68034047 in CBL gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.