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Cbl Gene Detail
Summary
  • Symbol
    Cbl
  • Name
    Casitas B-lineage lymphoma
  • Synonyms
    4732447J05Rik, Cbl-2, c-Cbl
  • Feature Type
    protein coding gene
  • IDs
    MGI:88279
    NCBI Gene: 12402
Location & Maps
more
  • Sequence Map
    Chr9:44149262-44234046 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      84785 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CBL, Cbl proto-oncogene, E3 ubiquitin protein ligase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CBL, Cbl proto-oncogene, E3 ubiquitin protein ligase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CBL2, C-CBL, FRA11B, NSLL, RNF55
  • Links
    NCBI Gene ID: 867
    neXtProt AC: NX_P22681

  • Chr Location
    11q23.3; chr11:119206276-119308149 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CBL associations

Human Disease Mouse Models
       Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL   OMIM: 613563
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    67 phenotypes from 5 alleles in 6 genetic backgrounds
    18 phenotypes from multigenic genotypes
    52 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
Homozygotes for targeted null mutations exhibit increased thymic CD3 and CD4 expression and tyrosine-phosphorylation, lymphoid hyperplasia, and altered splenic hemopoiesis. Females show increased ductal density and branching in mammary fat pads.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000034342 Ensembl Gene Model | MGI Sequence Detail 84785 C57BL/6J ±  kb
transcript ENSMUST00000037644 Ensembl | MGI Sequence Detail 5083 Not Applicable  
polypeptide ENSMUSP00000041902 Ensembl | MGI Sequence Detail 913 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    689 from dbSNP Build 137
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 133
    Genomic 4
    cDNA 123
    Primer pair 1
    Other 5

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-1779, MGD-MRK-1780, MGD-MRK-1782, MGI:2443367
References
more
  • Summaries
    All 128
    Developmental Gene Expression 6
    Gene Ontology 15
    Phenotypes 52
  • Earliest
    J:12104 Dressler GR, et al., Murine genes with homology to Drosophila segmentation genes. Development. 1988;104 Suppl:181-6
  • Latest
    J:221846 Rafiq K, et al., c-Cbl inhibition improves cardiac function and survival in response to myocardial ischemia. Circulation. 2014 May 20;129(20):2031-43

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory