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CBL Gene(Protein Coding)

Cbl Proto-Oncogene

GCID:
GC11P119206
GIFtS:
71
Genes Participants
UDN Logo

Aliases for CBL Gene

Aliases for CBL Gene

  • Cbl Proto-Oncogene 2 3 5
  • Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence 2 3
  • Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase 2 3
  • Casitas B-Lineage Lymphoma Proto-Oncogene 3 4
  • RING-Type E3 Ubiquitin Transferase CBL 3 4
  • Signal Transduction Protein CBL 3 4
  • RING Finger Protein 55 3 4
  • Proto-Oncogene C-Cbl 3 4
  • Oncogene CBL2 2 3
  • RNF55 3 4
  • CBL2 3 4
  • Fragile Site, Folic Acid Type, Rare, Fra(11)(Q23.3) 3
  • E3 Ubiquitin-Protein Ligase CBL 3
  • EC 2.3.2.27 4
  • EC 6.3.2 61
  • FRA11B 3
  • C-CBL 3
  • NSLL 3

External Ids for CBL Gene

Previous HGNC Symbols for CBL Gene

  • CBL2

Previous GeneCards Identifiers for CBL Gene

  • GC11M121124
  • GC11P120588
  • GC11P119110
  • GC11P118614
  • GC11P118582
  • GC11P115017

Summaries for CBL Gene

Entrez Gene Summary for CBL Gene

  • 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]

GeneCards Summary for CBL Gene

CBL (Cbl Proto-Oncogene) is a Protein Coding gene. Diseases associated with CBL include Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia and Leukemia, Acute Myelomonocytic, Somatic, Somatic. Among its related pathways are Notch signaling pathway (KEGG) and ErbB signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligase activity. An important paralog of this gene is CBLB.

UniProtKB/Swiss-Prot for CBL Gene

  • Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The Tyr-731 phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3.

Gene Wiki entry for CBL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBL Gene

Genomics for CBL Gene

Products:

  1. Regulatory Element

Regulatory Elements for CBL Gene

Enhancers for CBL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G119297 1.3 ENCODE dbSUPER 20.9 +92.7 92680 3.1 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 DEK CBL NLRX1 ABCG4 C1QTNF5 MFRP MCAM HMBS IFT46 USP2 GC11P119299
GH11G119217 1.3 Ensembl ENCODE 19.9 +12.1 12059 2.0 ATF1 PKNOX1 CREB3L1 ARNT SIN3A TCF12 ZNF766 ELK1 GATA2 FOS HINFP NLRX1 CBL PDZD3 ABCG4 DPAGT1 C2CD2L H2AFX HMBS C1QTNF5
GH11G119205 1 ENCODE 16.6 +0.3 301 3.1 CREB3L1 WRNIP1 SIN3A YY1 GLIS2 ZNF143 KLF7 KLF13 SP3 SP5 CBL RPL5P30 CCDC153 GC11M119252
GH11G119257 0.9 ENCODE 13.9 +53.2 53196 3.4 HDGF ELF3 PKNOX1 ATF1 THRB RARA ETV6 IKZF2 CEBPB JUNB CBL PDZD3 NLRX1 HMBS ABCG4 MFRP C1QTNF5 DPAGT1 C2CD2L H2AFX
GH11G118868 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.1 -336.5 -336472 3.5 FOXA2 ATF1 PKNOX1 WRNIP1 SIN3A RAD21 ZBTB40 YY1 CREM ZEB2 DDX6 CCDC84 TREHP1 UPK2 FOXR1 ENSG00000222529 BCL9L RN7SL688P ENSG00000255176 ENSG00000255121
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBL on UCSC Golden Path with GeneCards custom track

Promoters for CBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045742 524 2401 CREB3L1 WRNIP1 SIN3A YY1 GLIS2 ZNF143 KLF7 SP3 SP5 REST

Transcription factor binding sites by QIAGEN in the CBL gene promoter:

Genomic Location for CBL Gene

Chromosome:
11
Start:
119,206,276 bp from pter
End:
119,313,926 bp from pter
Size:
107,651 bases
Orientation:
Plus strand

Genomic View for CBL Gene

Genes around CBL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CBL Gene

Proteins for CBL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CBL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22681-CBL_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase CBL
    Protein Accession:
    P22681
    Secondary Accessions:
    • A3KMP8

    Protein attributes for CBL Gene

    Size:
    906 amino acids
    Molecular mass:
    99633 Da
    Quaternary structure:
    • Interacts (phosphorylated at Tyr-731) with PIK3R1. Associates with NCK via its SH3 domain. The phosphorylated C-terminus interacts with CD2AP via its second SH3 domain. Binds to UBE2L3. Interacts with adapters SLA, SLA2 and with the phosphorylated C-terminus of SH2B2. Interacts with EGFR, SYK and ZAP70 via the highly conserved Cbl-N region. Also interacts with SORBS1 and INPPL1/SHIP2. Interacts with phosphorylated LAT2. May interact with CBLB (By similarity). Interacts with ALK, AXL, BLK, FGR and FGFR2. Interacts with CSF1R, EPHB1, FLT1, KDR, PDGFRA and PDGFRB; regulates receptor degradation through ubiquitination. Interacts with HCK and LYN. Interacts with TEK/TIE2 (tyrosine phosphorylated). Interacts with SH3KBP1 and this interaction is inhibited in the presence of SHKBP1 (By similarity).
    Miscellaneous:
    • This protein has one functional calcium-binding site.

    Three dimensional structures from OCA and Proteopedia for CBL Gene

neXtProt entry for CBL Gene

Protein Expression for CBL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CBL Gene

P22681:
  • LAVTHPGYMAFLTYDEVKARLQK
  • NPDLTGLCEPTP
  • LKNSPPYILD
  • LPDTYQHLR
  • FRITKADAAEFWRK
  • KPGSYIFRLSCTRLGQWAIGYVT
  • WKLMDKVVRLCQNPKL
  • RRNLTKLSLIFSHMLAE
  • LFKEGKERMYEE

Post-translational modifications for CBL Gene

  • Phosphorylated on tyrosine residues by ALK, EGFR, SYK, FYN and ZAP70 (By similarity). Phosphorylated on tyrosine residues in response to FLT1 and KIT signaling. Phosphorylated on tyrosine residues by INSR and FGR. Phosphorylated on several tyrosine residues by constitutively activated FGFR3. Not phosphorylated at Tyr-731 by FGFR3. Phosphorylated on tyrosine residues by activated CSF1R, PDGFRA and PDGFRB. Phosphorylated on tyrosine residues by HCK.
  • Ubiquitinated, leading to its degradation via the proteasome.
  • Ubiquitination at posLast=77, posLast=7474, Lys105, Lys424, Lys471, and posLast=521521
  • Modification sites at PhosphoSitePlus

Other Protein References for CBL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CBL (CBL)
  • Abcam antibodies for CBL

Domains & Families for CBL Gene

Gene Families for CBL Gene

HGNC:

Protein Domains for CBL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CBL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22681

UniProtKB/Swiss-Prot:

CBL_HUMAN :
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
Domain:
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme.
  • The N-terminus is composed of the phosphotyrosine binding (PTB) domain, a short linker region and the RING-type zinc finger. The PTB domain, which is also called TKB (tyrosine kinase binding) domain, is composed of three different subdomains: a four-helix bundle (4H), a calcium-binding EF hand and a divergent SH2 domain.
genes like me logo Genes that share domains with CBL: view

Function for CBL Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CBL Gene

GENATLAS Biochemistry:
Cas-Br-M (murine) ecotropic retroviral transforming sequence,including a CGG trinucleotide repeat,abundantly expressed in thymus,acting as a RING-type E2-dependent ubiquitin protein ligase,binding and stimulating the ubiquitination of PDGFRs,EGFR,CSF1R,also interacting with signal transduction molecules,key mediator of HCK (hematopoietic cell kinase) induced signaling in hematopoietic cells
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The Tyr-731 phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3.

Enzyme Numbers (IUBMB) for CBL Gene

Gene Ontology (GO) - Molecular Function for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 2030914
GO:0004842 ubiquitin-protein transferase activity IEA,TAS 15465819
GO:0004871 signal transducer activity IEA --
GO:0005154 epidermal growth factor receptor binding IEA --
genes like me logo Genes that share ontologies with CBL: view
genes like me logo Genes that share phenotypes with CBL: view

Human Phenotype Ontology for CBL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CBL Gene

MGI Knock Outs for CBL:

Animal Model Products

  • Taconic Biosciences Mouse Models for CBL

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CBL Gene

Localization for CBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBL Gene

Cytoplasm. Cell membrane. Note=Colocalizes with FGFR2 in lipid rafts at the cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBL gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
lysosome 4
cytoskeleton 2
endosome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IEA --
genes like me logo Genes that share ontologies with CBL: view

Pathways & Interactions for CBL Gene

genes like me logo Genes that share pathways with CBL: view

UniProtKB/Swiss-Prot P22681-CBL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for CBL Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000264033%0d%0a9606.ENSP00000344259%0d%0a9606.ENSP00000271234%0d%0a9606.ENSP00000222390%0d%0a9606.ENSP00000267540%0d%0a9606.ENSP00000330382%0d%0a
Selected Interacting proteins: ENSP00000264033 P22681-CBL_HUMAN for CBL Gene via STRING MINT IID UniProtKB

Symbol External ID(s) Details
SH3KBP1
SPRY2
MET
EGFR
ITSN1

SIGNOR curated interactions for CBL Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006513 protein monoubiquitination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007166 cell surface receptor signaling pathway TAS,IEA 15465819
genes like me logo Genes that share ontologies with CBL: view

Drugs & Compounds for CBL Gene

Products:

  1. Drug

(26) Drugs for CBL Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
tyrosine Nutra 699
calcium Nutra 0

(16) Additional Compounds for CBL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with CBL: view

Transcripts for CBL Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CBL Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CBL Gene

Cbl proto-oncogene, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBL Gene

No ASD Table

Relevant External Links for CBL Gene

GeneLoc Exon Structure for
CBL
ECgene alternative splicing isoforms for
CBL

Expression for CBL Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBL Gene

mRNA expression in normal human tissues for CBL Gene
mRNA expression by BioGPS for CBL GenemRNA expression by GTEx for CBL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBL Gene

This gene is overexpressed in Whole Blood (x5.6).

Protein differential expression in normal tissues from HIPED for CBL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.6), Lymph node (6.3), Fetal ovary (6.3), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBL Gene



Protein tissue co-expression partners for CBL Gene

NURSA nuclear receptor signaling pathways regulating expression of CBL Gene:

CBL

SOURCE GeneReport for Unigene cluster for CBL Gene:

Hs.504096

Evidence on tissue expression from TISSUES for CBL Gene

  • Nervous system(3)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CBL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • skin
  • spinal column
  • white blood cell
genes like me logo Genes that share expression patterns with CBL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CBL Gene

Orthologs for CBL Gene

This gene was present in the common ancestor of animals.

Orthologs for CBL Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 100 (a)
 OneToMany
-- 35
  • 77 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia CBL 34 35
  • 99.78 (n)
cow
(Bos Taurus)
 Mammalia CBL 34 35
  • 91.82 (n)
dog
(Canis familiaris)
 Mammalia CBL 34 35
  • 91.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia CBL 35
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cbl 34 16 35
  • 88.08 (n)
rat
(Rattus norvegicus)
 Mammalia Cbl 34
  • 87.98 (n)
chicken
(Gallus gallus)
 Aves CBL 34 35
  • 77.65 (n)
lizard
(Anolis carolinensis)
 Reptilia CBL 35
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cbl 34
  • 71.27 (n)
Str.1437 34
African clawed frog
(Xenopus laevis)
 Amphibia Cbl 34
zebrafish
(Danio rerio)
 Actinopterygii cbl 34 35
  • 68.48 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9276 34
fruit fly
(Drosophila melanogaster)
 Insecta Cbl 36 35
  • 71 (a)
worm
(Caenorhabditis elegans)
 Secernentea sli-1 36 35
  • 54 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 69 (a)
 OneToMany
Species where no ortholog for CBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CBL Gene

ENSEMBL:
Gene Tree for CBL (if available)
TreeFam:
Gene Tree for CBL (if available)

Paralogs for CBL Gene

Paralogs for CBL Gene

(3) SIMAP similar genes for CBL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CBL: view

Variants for CBL Gene

Sequence variations from dbSNP and Humsavar for CBL Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs267606704 Pathogenic, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] 119,278,170(+) GGAAC(A/C/G)ATATG reference, missense
rs267606705 Pathogenic, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] 119,278,214(+) TATGT(A/G)AAATA reference, missense
rs267606707 Pathogenic, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] 119,278,238(+) ATAAG(G/T)ATGTA reference, missense
rs267606708 Pathogenic, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] 119,278,541(+) CTGCC(A/G)ATGTG reference, missense
rs267606706 Pathogenic 119,278,181(+) AATTA(A/C/T)ACTGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CBL Gene

Variant ID Type Subtype PubMed ID
esv1143209 CNV insertion 17803354
esv2519793 CNV insertion 19546169
esv2665710 CNV deletion 23128226
esv3397693 CNV insertion 20981092
esv3579930 CNV loss 25503493
esv3627888 CNV loss 21293372
esv3627889 CNV loss 21293372
esv3627890 CNV loss 21293372
nsv1138079 CNV deletion 24896259
nsv525043 CNV loss 19592680
nsv528636 CNV gain 19592680
nsv952746 CNV duplication 24416366

Variation tolerance for CBL Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBL Gene

Human Gene Mutation Database (HGMD)
CBL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBL Gene

Disorders for CBL Gene

MalaCards: The human disease database

(19) MalaCards diseases for CBL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
  • noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
juvenile myelomonocytic leukemia, somatic cbl-related
  • jmml
jacobsen syndrome
  • chromosome 11q deletion
thanatophoric dysplasia, type i
  • thanatophoric dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search CBL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CBL_HUMAN
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]: A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. {ECO:0000269 PubMed:20619386, ECO:0000269 PubMed:25178484}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CBL

Genetic Association Database (GAD)
CBL
Human Genome Epidemiology (HuGE) Navigator
CBL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBL
genes like me logo Genes that share disorders with CBL: view

No data available for Genatlas for CBL Gene

Publications for CBL Gene

  1. Lyn regulates BCR-ABL and Gab2 tyrosine phosphorylation and c-Cbl protein stability in imatinib-resistant chronic myelogenous leukemia cells. (PMID: 18235045) Wu J. … Donato N.J. (Blood 2008) 3 4 22 64
  2. Ligand binding induces Cbl-dependent EphB1 receptor degradation through the lysosomal pathway. (PMID: 18034775) Fasen K. … Huynh-Do U. (Traffic 2008) 3 4 22 64
  3. Catalytic domains of tyrosine kinases determine the phosphorylation sites within c-Cbl. (PMID: 15556646) Grossmann A.H. … Druker B.J. (FEBS Lett. 2004) 3 4 22 64
  4. Fgr but not Syk tyrosine kinase is a target for beta 2 integrin- induced c-Cbl-mediated ubiquitination in adherent human neutrophils. (PMID: 12435267) Melander F. … Dib K. (Biochem. J. 2003) 3 4 22 64
  5. APS facilitates c-Cbl tyrosine phosphorylation and GLUT4 translocation in response to insulin in 3T3-L1 adipocytes. (PMID: 11997497) Liu J. … Saltiel A.R. (Mol. Cell. Biol. 2002) 3 4 22 64

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Sources for CBL Gene

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