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
External Ids for CBL Gene
- HGNC: 1541
- Entrez Gene: 867
- Ensembl: ENSG00000110395
- OMIM: 165360
- UniProtKB: P22681
Previous HGNC Symbols for CBL Gene
- CBL2
Previous GeneCards Identifiers for CBL Gene
- GC11M121124
- GC11P120588
- GC11P119110
- GC11P118614
- GC11P118582
- GC11P115017
Summaries 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 Juvenile Myelomonocytic Leukemia. Among its related pathways are Negative regulation of FGFR3 signaling and RANK Signaling in Osteoclasts. 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 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.
Additional gene information for CBL Gene
- Monarch Initiative
- Search for CBL at DataMed
- Search for CBL at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBL Gene
Genomics for CBL Gene
GeneHancer (GH) Regulatory Elements for CBL Gene
Promoters and enhancers for CBL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CBL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CBL gene promoter:
Regulatory Element Products
Genomic Locations for CBL Gene
Genomic Locations for CBL Gene
- chr11:119,206,276-119,313,926
- (GRCh38/hg38)
- Size:
- 107,651 bases
- Orientation:
- Plus strand
- chr11:119,076,752-119,178,859
- (GRCh37/hg19)
Genomic View for CBL Gene
Genes around CBL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
CBL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with SIGLEC10 (By similarity).
- Miscellaneous:
-
- This protein has one functional calcium-binding site.
Protein Expression 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.
- Ubiquitination at Lys7, Lys74, Lys105, Lys424, posLast=471471, and posLast=521521
Other Protein References for CBL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CBL (CBL)
- Cell Signaling Technology (CST) Antibodies for CBL (CBL)
- Novus Biologicals Antibodies for CBL
-
Abcam antibodies for CBL
-
Cloud-Clone Corp. Antibodies for CBL
- Invitrogen Antibodies for CBL
- antibodies-online: Search results for 286 available CBL Antibodies ranked by validation data
- Compare Top CBL Antibodies
-
Recommended
- 60 IF (p) Antibodies (anti-mouse)
- 105 WB Antibodies (anti-mouse)
- 1 FACS Antibody (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 5 ICS Antibodies (anti-human)
- 14 IHC Antibodies (anti-human)
- 60 IF (p) Antibodies (anti-human)
- 194 WB Antibodies (anti-human)
- 1 FACS Antibody (anti-mouse)
- 3 ICS Antibodies (anti-mouse)
- 1 FACS Antibody (anti-rat)
- 60 IF (p) Antibodies (anti-rat)
- 99 WB Antibodies (anti-rat)
- GeneTex CBL antibody for CBL
-
Custom Antibody ServicesProSci Antibodies for CBL
-
Santa Cruz Biotechnology (SCBT) Antibodies for CBL
Protein Products
-
OriGene Purified Proteins for CBL
- Search Origene for MassSpec and Protein Over-expression Lysates for CBL
- Origene Custom Protein Services for CBL
-
Cloud-Clone Corp. Proteins for CBL
- Search GeneTex for Proteins for CBL
-
Abcam proteins for CBL
Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for CBL (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:
Graphical View of Domain Structure for InterPro Entry
P22681UniProtKB/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.
Function for CBL Gene
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
Phenotypes From GWAS Catalog for CBL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001784 | phosphotyrosine residue binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | TAS | 2030914 |
| GO:0004842 | ubiquitin-protein transferase activity | TAS,IEA | 15465819 |
| GO:0004871 | signal transducer activity | IEA | -- |
| GO:0005154 | epidermal growth factor receptor binding | IEA | -- |
Phenotypes for CBL Gene
- MGI mutant phenotypes for CBL:
-
inferred from 8 alleles
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- pigmentation phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for CBL:
-
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Lamellipodia cells
- Decreased viability in esophageal squamous lineage
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased cell migration
- Increased shRNA abundance
- Increased cell migration
Animal Models for CBL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBL
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CBL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBL gene
- Search ViGene Biosciences for CBL
CRISPR Products
-
OriGene CRISPR knockouts for CBL
- genomics-online: gRNA clones - Search results for 67 available CBL gene related products
- Overview of 67 available CBL gene related products
- Applied Biological Materials CRISPR for CBL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBL
- GenScript: Design CRISPR guide RNA sequences for CBL
miRNA for CBL Gene
- miRTarBase miRNAs that target CBL
-
- hsa-mir-17-5p (MIRT050866)
- hsa-let-7c-5p (MIRT051757)
- hsa-mir-150-5p (MIRT054868)
- hsa-mir-155-5p (MIRT129282)
- hsa-mir-98-5p (MIRT437868)
- hsa-mir-188-3p (MIRT437869)
- hsa-mir-218-5p (MIRT441000)
- hsa-mir-1273d (MIRT624435)
- hsa-mir-7973 (MIRT719555)
- hsa-mir-6846-3p (MIRT719556)
- hsa-mir-6859-3p (MIRT719557)
- hsa-mir-4287 (MIRT719558)
- hsa-mir-4685-3p (MIRT719559)
- hsa-mir-1224-3p (MIRT719560)
- hsa-mir-1306-5p (MIRT719561)
- hsa-mir-216a-5p (MIRT731669)
- hsa-mir-124-3p (MIRT731694)
- hsa-mir-1972 (MIRT738667)
- hsa-mir-3150b-3p (MIRT740299)
- hsa-mir-4524a-3p (MIRT745837)
- hsa-mir-4524b-3p (MIRT745875)
- hsa-mir-4693-3p (MIRT747140)
- hsa-mir-4717-5p (MIRT747518)
- hsa-mir-4784 (MIRT748816)
- hsa-mir-5192 (MIRT749933)
- hsa-mir-6894-5p (MIRT758763)
- hsa-mir-7154-3p (MIRT759212)
- hsa-mir-765 (MIRT759543)
- hsa-mir-766-5p (MIRT759631)
- hsa-mir-7847-3p (MIRT759829)
miRNA Products
- Search ViGene Biosciences for CBL
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CBL
- Browse OriGene Inhibitory RNA Products For CBL
- genomics-online: shRNA clones - Search results for 67 available CBL gene related products
- Overview of 67 available CBL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CBL gene
Clone Products
-
OriGene ORF clones in human for CBL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CBL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CBL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CBL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CBL
-
ViGene Biosciences adenoviral particle packaged cDNA for CBL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CBL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBL gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| nucleus | 4 |
| lysosome | 4 |
| cytoskeleton | 2 |
| endosome | 2 |
| extracellular | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005925 | focal adhesion | IEA | -- |
Pathways & Interactions for CBL Gene
Pathways by source for CBL Gene
2 Sino Biological pathways for CBL Gene
2 Cell Signaling Technology pathways for CBL Gene
36 BioSystems pathways for CBL Gene
9 KEGG pathways for CBL Gene
15 GeneGo (Thomson Reuters) pathways for CBL Gene
1 R&D Systems pathway for CBL Gene
14 Qiagen pathways for CBL Gene
UniProtKB/Swiss-Prot P22681-CBL_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for CBL Gene
Selected Interacting proteins:
P22681-CBL_HUMAN
ENSP00000264033
for CBL Gene via
MINT
STRING
UniProtKB
IID
SIGNOR curated interactions 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 |
Drugs & Compounds for CBL Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for CBL Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for CBL
- genomics-online: gRNA clones - Search results for 67 available CBL gene related products
- Overview of 67 available CBL gene related products
- Applied Biological Materials CRISPR for CBL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBL
- GenScript: Design CRISPR guide RNA sequences for CBL
miRNA Products
- Search ViGene Biosciences for CBL
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CBL
- Browse OriGene Inhibitory RNA Products For CBL
- genomics-online: shRNA clones - Search results for 67 available CBL gene related products
- Overview of 67 available CBL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CBL gene
Clone Products
-
OriGene ORF clones in human for CBL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CBL
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CBL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for CBL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CBL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Placenta (Extraembryonic Tissues)
- Hofbauer Cells Chorionic Villus
-
Chorion (Extraembryonic Tissues)
- Hofbauer Cells Chorionic Villus
-
Limb (Muscoskeletal System)
- Limb Bud Mesenchyme Cells Limb Bud
-
Mesoderm (Gastrulation Derivatives)
- Limb Bud Mesenchyme Cells Limb Bud
- Blood (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CBL Gene
This gene is overexpressed in Whole Blood (x5.6).
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
NURSA nuclear receptor signaling pathways regulating expression of CBL Gene:
CBLSOURCE GeneReport for Unigene cluster for CBL Gene:
Hs.504096Evidence 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
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
Primer Products
-
OriGene qPCR primer pairs for CBL
- genomics-online: primer clones - Search results for 67 available CBL gene related products
- Overview of 67 available CBL gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | CBL 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CBL 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CBL 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CBL 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cbl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cbl 33 |
|
||
| chicken (Gallus gallus) |
Aves | CBL 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | CBL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cbl 33 |
|
||
| Str.1437 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Cbl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cbl 33 34 |
|
||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9276 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Cbl 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sli-1 35 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for CBL Gene
Variants for CBL Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014254888 | uncertain-significance, Noonan-Like Syndrome Disorder | 119,303,921(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1032470853 | uncertain-significance, Noonan-Like Syndrome Disorder | 119,300,063(+) | C/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1038904265 | uncertain-significance, likely-benign, Noonan-Like Syndrome Disorder, Rasopathy | 119,296,933(+) | A/C | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs1042340033 | likely-benign, Rasopathy | 119,298,443(+) | A/C/G | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs1047417 | benign, Noonan-Like Syndrome Disorder | 119,301,826(+) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv952746 | CNV | duplication | 24416366 |
| nsv528636 | CNV | gain | 19592680 |
| nsv525043 | CNV | loss | 19592680 |
| nsv1138079 | CNV | deletion | 24896259 |
| esv3627890 | CNV | loss | 21293372 |
| esv3627889 | CNV | loss | 21293372 |
| esv3627888 | CNV | loss | 21293372 |
| esv3579930 | CNV | loss | 25503493 |
| esv3397693 | CNV | insertion | 20981092 |
| esv2665710 | CNV | deletion | 23128226 |
| esv2519793 | CNV | insertion | 19546169 |
| esv1143209 | CNV | insertion | 17803354 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBL Gene
Disorders for CBL Gene
(7) MalaCards diseases for CBL Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
|
|
| juvenile myelomonocytic leukemia |
|
|
| jacobsen syndrome |
|
|
| thanatophoric dysplasia, type i |
|
|
| adrenal cortical adenocarcinoma |
|
|
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.
Additional Disease Information for CBL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CBL Gene
Publications for CBL Gene
- 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 58
- 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 58
- Catalytic domains of tyrosine kinases determine the phosphorylation sites within c-Cbl. (PMID: 15556646) Grossmann AH … Druker BJ (FEBS letters 2004) 3 4 22 58
- 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 (The Biochemical journal 2003) 3 4 22 58
- APS facilitates c-Cbl tyrosine phosphorylation and GLUT4 translocation in response to insulin in 3T3-L1 adipocytes. (PMID: 11997497) Liu J … Saltiel AR (Molecular and cellular biology 2002) 3 4 22 58
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Sources for CBL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
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