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 al... See more...

Aliases for CBL Gene

Aliases for CBL Gene

  • Cbl Proto-Oncogene 2 3 5
  • RNF55 2 3 4
  • 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
  • E3 Ubiquitin-Protein Ligase 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
  • CBL2 3 4
  • Fragile Site, Folic Acid Type, Rare, Fra(11)(Q23.3) 3
  • EC 2.3.2.27 4
  • EC 6.3.2 50
  • FRA11B 3
  • C-CBL 3
  • C-Cbl 2
  • NSLL 3
  • CBL 5

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]

CIViC Summary for CBL Gene

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 Juvenile Myelomonocytic Leukemia. Among its related pathways are RET signaling and Development EGFR signaling via small GTPases. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ligase activity. An important paralog of this gene is CBLB.

UniProtKB/Swiss-Prot Summary 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 (PubMed:17094949). Ubiquitinates SPRY2 (PubMed:17094949, PubMed:17974561). Ubiquitinates EGFR (PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, 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. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity).

Gene Wiki entry for CBL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBL Gene

Genomics for CBL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J119205 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 266.5 +0.8 806 4.2 SP1 IKZF1 ZNF592 POLR2A ZBTB10 YY1 NONO REST CTCF TRIM22 CBL HSALNG0087632 CCDC153 MCAM RPL5P30 HSALNG0087634
GH11J119192 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 21.4 -11.1 -11097 8.8 BCLAF1 SP1 MYC ZNF654 CEBPA ATF3 YY1 CEBPB CTCF REST CCDC153 HSALNG0087630 lnc-DPAGT1-1 piR-51667 RNF26 CBL HINFP PDZD3 NLRX1 VPS11
GH11J119257 Enhancer 1 Ensembl ENCODE 20.2 +57.2 57203 13 TRIM22 ZNF316 SMARCA5 NFE2 PRDM10 BHLHE40 CTCF SPI1 ETV1 BATF CBL RNU6-262P NLRX1 PDZD3 ABCG4 HMBS HINFP MFRP C1QTNF5 DPAGT1
GH11J119314 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.1 +112.5 112497 8.2 EZH2 ZNF654 MYC IKZF1 NCOR1 ZNF592 ATF2 CEBPA BRCA1 POLR2A MCAM HSALNG0087640 HSALNG0087641-001 HSALNG0087641-002 RNF26 ENSG00000245869 BCL9L CBL IFT46 RPS25
GH11J119237 Enhancer 0.8 Ensembl ENCODE 21.1 +30.8 30803 1.8 ZNF316 NFE2 BATF MAFK MAFG JUNB BHLHE40 CEBPB NFE2L2 RUNX3 HINFP CBL C2CD2L RNU6-262P PDZD3 DPAGT1 ABCG4 NLRX1 H2AX HMBS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBL

Top Transcription factor binding sites by QIAGEN in the CBL gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Elk-1
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1alpha
  • STAT1beta
  • STAT3
  • STAT5A

Genomic Locations for CBL Gene

Latest Assembly
chr11:119,206,298-119,313,926
(GRCh38/hg38)
Size:
107,629 bases
Orientation:
Plus strand

Previous Assembly
chr11:119,077,049-119,178,859
(GRCh37/hg19 by Entrez Gene)
Size:
101,811 bases
Orientation:
Plus strand

chr11:119,076,752-119,178,859
(GRCh37/hg19 by Ensembl)
Size:
102,108 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 StructureGene Density

RefSeq DNA sequence for CBL Gene

Proteins for CBL Gene

  • 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:
    • Forms homodimers; IFT20 promotes the formation of stable homodimers (PubMed:29237719). 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 (By similarity). Interacts with CBLB (PubMed:29237719). 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 ATX2 (By similarity). Interacts with TEK/TIE2 (tyrosine phosphorylated). Interacts with SH3KBP1 and this interaction is inhibited in the presence of SHKBP1 (By similarity). Interacts with SIGLEC10 (By similarity). Interacts with IFT20 (PubMed:29237719). Interacts with SPRY2; the interaction inhibits CBL-mediated ubiquitination of EGFR (PubMed:17974561).
    • (Microbial infection) Interacts with M.tuberculosis LpqN, which influences the balance between intrinsic antibacterial and antiviral defense.
    Miscellaneous:
    • This protein has one functional calcium-binding site.

    Three dimensional structures from OCA and Proteopedia for CBL Gene

neXtProt entry for CBL Gene

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 (PubMed:11896602, PubMed:20094046). Ubiquitination is negatively regulated by IFT20 (PubMed:29237719).
  • Ubiquitination at Lys7, Lys74, Lys105, Lys424, Lys471, and Lys521
  • Modification sites at PhosphoSitePlus

Other Protein References for CBL Gene

Antibodies for research

  • Abcam antibodies for CBL

Domains & Families for CBL Gene

Gene Families for CBL Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CBL Gene

Suggested Antigen Peptide Sequences for CBL Gene

GenScript: Design optimal peptide antigens:
  • Signal transduction protein CBL (CBL_HUMAN)
  • CBL2 (Q6LB30_HUMAN)

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

Molecular function for CBL Gene

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 (PubMed:17094949). Ubiquitinates SPRY2 (PubMed:17094949, PubMed:17974561). Ubiquitinates EGFR (PubMed:17974561). Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, 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. In association with CBLB, required for proper feedback inhibition of ciliary platelet-derived growth factor receptor-alpha (PDGFRA) signaling pathway via ubiquitination and internalization of PDGFRA (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:10514377, ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:17509076};.
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

Enzyme Numbers (IUBMB) for CBL Gene

Phenotypes From GWAS Catalog for CBL Gene

Gene Ontology (GO) - Molecular Function for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IEA --
GO:0004842 ubiquitin-protein transferase activity IEA,TAS 15465819
GO:0005154 epidermal growth factor receptor binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 5668240
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:
  • Cbl Cbl<tm1Ddlb>
  • Cbl Cbl<tm1.1Hua>
  • Cbl Cbl<tm1Soga>
  • Cbl Cbl<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for CBL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBL

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. Cell projection, cilium. Golgi apparatus. 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
golgi apparatus 5
nucleus 4
endosome 3
lysosome 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA,IDA 29237719
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA,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

Pathways by source for CBL Gene

15 GeneGo (Thomson Reuters) pathways for CBL Gene
  • Chemotaxis CXCR4 signaling pathway
  • Development EGFR signaling pathway
  • Development EGFR signaling via PIP3
  • Development EGFR signaling via small GTPases
  • Development EPO-induced Jak-STAT pathway
1 R&D Systems pathway for CBL Gene
14 Qiagen pathways for CBL Gene
  • 14-3-3 Induced Intracellular Signaling
  • EGF Pathway
  • EphB-EphrinB Signaling
  • Ephrin-Eph Signaling
  • FLT3 Signaling
2 Cell Signaling Technology pathways for CBL Gene

UniProtKB/Swiss-Prot P22681-CBL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for CBL Gene

Gene Ontology (GO) - Biological Process for CBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IMP 25178484
GO:0006513 protein monoubiquitination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007165 signal transduction IBA 21873635
genes like me logo Genes that share ontologies with CBL: view

Drugs & Compounds for CBL Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tyrosine Approved, Investigational Nutra 1149
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
Calcium Nutra 6959

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with CBL: view

Transcripts for CBL Gene

mRNA/cDNA for CBL Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBL

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

No ASD Table

Relevant External Links for CBL Gene

GeneLoc Exon Structure for
CBL

Expression for CBL Gene

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



Protein tissue co-expression partners for CBL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBL

SOURCE GeneReport for Unigene cluster for CBL Gene:

Hs.504096

Evidence on tissue expression from TISSUES for CBL Gene

  • Nervous system(3.6)
  • Blood(2.8)
  • Spleen(2.5)
  • Intestine(2.5)
  • Bone marrow(2.4)
  • Kidney(2.3)
  • Lymph node(2.3)
  • Heart(2.2)
  • Lung(2.2)
  • Skin(2.2)
  • Muscle(2)

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
Regions:
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 for research

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 -- 30
  • 100 (a)
OneToMany
-- 30
  • 77 (a)
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia CBL 29 30
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CBL 29 30
  • 91.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBL 29 30
  • 91.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CBL 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cbl 29 16 30
  • 88.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cbl 29
  • 87.98 (n)
Chicken
(Gallus gallus)
Aves CBL 29 30
  • 77.65 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CBL 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cbl 29
  • 71.27 (n)
Str.1437 29
African clawed frog
(Xenopus laevis)
Amphibia Cbl 29
Zebrafish
(Danio rerio)
Actinopterygii cbl 29 30
  • 68.48 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9276 29
Fruit Fly
(Drosophila melanogaster)
Insecta Cbl 30 31
  • 42 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sli-1 30 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 69 (a)
OneToMany
Species where no ortholog for CBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CBL: view image
Alliance of Genome Resources:
Additional Orthologs for CBL

Paralogs for CBL Gene

Paralogs for CBL Gene

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

  • CBL_HUMAN
  • L0R4V5_HUMAN
genes like me logo Genes that share paralogs with CBL: view

Variants for CBL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBL Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1003891 Uncertain Significance: Rasopathy 119,285,274(+) G/A
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)
MISSENSE
1004948 Uncertain Significance: Rasopathy 119,232,479(+) C/A
NM_005188.4(CBL):c.227C>A (p.Ala76Glu)
MISSENSE
1009369 Uncertain Significance: Rasopathy 119,285,033(+) G/A
NM_005188.4(CBL):c.1496G>A (p.Arg499Gln)
MISSENSE
1009736 Uncertain Significance: Rasopathy 119,298,356(+) A/G
NM_005188.4(CBL):c.2252-2A>G
SPLICE_ACCEPTOR
1018257 Uncertain Significance: Rasopathy 119,232,538(+) C/T
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CBL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CBL Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CBL Gene

MalaCards: The human disease database

(37) MalaCards diseases for CBL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for CBL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CBL: view

No data available for Genatlas for CBL Gene

Publications for CBL Gene

  1. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. (PMID: 20619386) Martinelli S … Tartaglia M (American journal of human genetics 2010) 3 4 72
  2. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. (PMID: 19620960) Sanada M … Ogawa S (Nature 2009) 3 22 72
  3. Ligand binding induces Cbl-dependent EphB1 receptor degradation through the lysosomal pathway. (PMID: 18034775) Fasen K … Huynh-Do U (Traffic (Copenhagen, Denmark) 2008) 3 4 22
  4. 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 NJ (Blood 2008) 3 4 22
  5. Binding of Cbl to a phospholipase Cgamma1-docking site on platelet-derived growth factor receptor beta provides a dual mechanism of negative regulation. (PMID: 17620338) Reddi AL … Band H (The Journal of biological chemistry 2007) 3 4 22

Products for CBL Gene

Sources for CBL Gene