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Gene : CBL Homo sapiens

Name  ? Cbl proto-oncogene Cytological Location  11q23.3
Brief Description  Cbl proto-oncogene
Description  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. [provided by RefSeq, Jul 2016]
  • synonyms:
  • NM_005188,
  • C-CBL,
  • FRA11B,
  • CBL2,
  • X57110,
  • OTTHUMG00000166170,
  • CBL2,
  • c-Cbl,
  • RNF55,
  • uc001pwe.6,
  • Cas-Br-M (murine) ecotropic retroviral transforming sequence,
  • oncogene CBL2,
  • HGNC:1541,
  • Cbl proto-oncogene, E3 ubiquitin protein ligase,
  • CBL,
  • RNF55,
  • NSLL
  • identifiers:
  • 867,
  • ENSG00000110395,
  • CBL

Genome feature

Region: gene ? Length: 101811  
Location: 11:119206339-119308149 Cyto location: 11q23.3


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

54 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

54 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results