ENSG00000110395


Homo sapiens

Features
Gene ID: ENSG00000110395
  
Biological name :CBL
  
Synonyms : CBL / Cbl proto-oncogene / P22681
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q23.3
Gene start: 119206276
Gene end: 119313926
  
Corresponding Affymetrix probe sets: 206607_at (Human Genome U133 Plus 2.0 Array)   225231_at (Human Genome U133 Plus 2.0 Array)   225234_at (Human Genome U133 Plus 2.0 Array)   229010_at (Human Genome U133 Plus 2.0 Array)   243475_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264033
Ensembl peptide - ENSP00000490763
Ensembl peptide - ENSP00000489556
Ensembl peptide - ENSP00000489324
Ensembl peptide - ENSP00000489218
NCBI entrez gene - 867     See in Manteia.
OMIM - 165360
RefSeq - XM_017018511
RefSeq - NM_005188
RefSeq Peptide - NP_005179
swissprot - A0A0U1RR39
swissprot - A0A0U1RQX8
swissprot - A0A1B0GW38
swissprot - P22681
swissprot - A0A0U1RRJ5
Ensembl - ENSG00000110395
  
Related genetic diseases (OMIM): 607785 - ?Juvenile myelomonocytic leukemia, 607785
  613563 - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cblENSDARG00000009958Danio rerio
 CBLENSGALG00000029077Gallus gallus
 CblENSMUSG00000034342Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CBLB / Q13191 / Cbl proto-oncogene BENSG0000011442351
CBLC / Q9ULV8 / Cbl proto-oncogene CENSG0000014227323


Protein motifs (from Interpro)
Interpro ID Name
 IPR001841  Zinc finger, RING-type
 IPR003153  Adaptor protein Cbl, N-terminal helical
 IPR009060  UBA-like superfamily
 IPR011992  EF-hand domain pair
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR014741  Adaptor protein Cbl, EF hand-like
 IPR014742  Adaptor protein Cbl, SH2-like domain
 IPR015940  Ubiquitin-associated domain
 IPR017907  Zinc finger, RING-type, conserved site
 IPR024159  Adaptor protein Cbl, PTB domain
 IPR024162  Adaptor protein Cbl
 IPR036537  Adaptor protein Cbl, N-terminal domain superfamily
 IPR036860  SH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0006513 protein monoubiquitination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0007175 negative regulation of epidermal growth factor-activated receptor activity IBA
 biological_processGO:0007179 transforming growth factor beta receptor signaling pathway TAS
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway TAS
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0010332 response to gamma radiation IEA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IMP
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0023051 regulation of signaling IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0035635 entry of bacterium into host cell TAS
 biological_processGO:0036120 cellular response to platelet-derived growth factor stimulus IEA
 biological_processGO:0042059 negative regulation of epidermal growth factor receptor signaling pathway IMP
 biological_processGO:0042594 response to starvation IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043303 mast cell degranulation IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0046677 response to antibiotic IEA
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis TAS
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0070102 interleukin-6-mediated signaling pathway TAS
 biological_processGO:0070997 neuron death IEA
 biological_processGO:0071364 cellular response to epidermal growth factor stimulus IEA
 biological_processGO:0090650 cellular response to oxygen-glucose deprivation IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016600 flotillin complex IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0042629 mast cell granule IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0001784 phosphotyrosine residue binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0005154 epidermal growth factor receptor binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0030971 receptor tyrosine kinase binding IBA
 molecular_functionGO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding IEA
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046875 ephrin receptor binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IEA
 molecular_functionGO:1990782 protein tyrosine kinase binding IEA


Pathways (from Reactome)
Pathway description
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
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000325 Triangular facies 
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 HP:0000343 Long philtrum 
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000400 Large ears 
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 HP:0000465 Webbed neck 
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 HP:0000470 Short neck 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000750 Impaired language development 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000957 Cafe-au-lait spots 
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 HP:0001004 Lymphedema 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001388 Joint laxity 
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 HP:0001428 Somatic mutation 
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 HP:0001561 Polyhydramnios 
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 HP:0001647 Bicuspid aortic valve "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson]
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0002002 Deep philtrum 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002213 Fine hair 
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 HP:0002967 Cubitus valgus 
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 HP:0003812 Phenotypic variability 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0006610 Wide intermamillary distance 
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 HP:0008070 Sparse hair 
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 HP:0010310 Chylothorax "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators]
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 HP:0012209 Juvenile myelomonocytic leukemia "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [HPO:probinson, pmid:18954903]
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / complex / reaction
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / complex / reaction
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000019991 HGF / P14210 / hepatocyte growth factor  / complex / reaction
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / reaction
 ENSG00000118972 FGF23 / Q9GZV9 / fibroblast growth factor 23  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000136244 IL6 / P05231 / interleukin 6  / complex / reaction
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / complex / reaction
 ENSG00000063245 EPN1 / Q9Y6I3 / epsin 1  / complex / reaction
 ENSG00000049130 KITLG / P21583 / KIT ligand  / complex / reaction
 ENSG00000104695 P62714 / PPP2CB / protein phosphatase 2 catalytic subunit beta  / reaction
 ENSG00000095585 BLNK / Q8WV28 / B cell linker  / complex / reaction
 ENSG00000102606 Q14155 / ARHGEF7 / Rho guanine nucleotide exchange factor 7  / complex / reaction
 ENSG00000130725 UBE2M / P61081 / ubiquitin conjugating enzyme E2 M  / reaction
 ENSG00000129559 NEDD8 / Q15843 / neural precursor cell expressed, developmentally down-regulated 8  / reaction
 ENSG00000113575 P67775 / PPP2CA / protein phosphatase 2 catalytic subunit alpha  / reaction
 ENSG00000134962 KLB / Q86Z14 / klotho beta  / complex / reaction
 ENSG00000068078 FGFR3 / P22607 / fibroblast growth factor receptor 3  / complex / reaction
 ENSG00000115145 STAM2 / O75886 / signal transducing adaptor molecule 2  / complex / reaction
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000169891 REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2  / complex
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex / reaction
 ENSG00000167193 CRK / P46108 / CRK proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000160867 FGFR4 / P22455 / fibroblast growth factor receptor 4  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000163513 P37173 / TGFBR2 / transforming growth factor beta receptor 2  / complex / reaction
 ENSG00000162344 FGF19 / O95750 / fibroblast growth factor 19  / complex / reaction
 ENSG00000157404 KIT / P10721 / KIT proto-oncogene receptor tyrosine kinase  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000164056 SPRY1 / O43609 / sprouty RTK signaling antagonist 1  / complex / reaction
 ENSG00000105568 P30153 / PPP2R1A / protein phosphatase 2 scaffold subunit Aalpha  / reaction
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000105976 MET / P08581 / MET proto-oncogene, receptor tyrosine kinase  / complex / reaction
 ENSG00000072134 EPN2 / O95208 / epsin 2  / complex / reaction
 ENSG00000185359 HGS / O14964 / hepatocyte growth factor-regulated tyrosine kinase substrate  / complex / reaction
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / complex / reaction
 ENSG00000085832 EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15  / complex / reaction
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000147010 Q96B97 / SH3KBP1 / SH3 domain containing kinase binding protein 1  / complex / reaction
 ENSG00000136738 STAM / Q92783 / signal transducing adaptor molecule  / complex / reaction
 ENSG00000107295 Q99962 / SH3GL2 / SH3 domain containing GRB2 like 2, endophilin A1  / complex / reaction
 ENSG00000136158 SPRY2 / O43597 / sprouty RTK signaling antagonist 2  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex / reaction
 ENSG00000077782 FGFR1 / P11362 / fibroblast growth factor receptor 1  / complex / reaction
 ENSG00000160712 IL6R / P08887 / interleukin 6 receptor  / complex / reaction
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex / reaction
 ENSG00000066468 FGFR2 / P21802 / fibroblast growth factor receptor 2  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000133116 KL / klotho / Q9UEF7  / complex / reaction






 

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