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CBLC Gene

protein-coding   GIFtS: 54
GCID: GC19P045281

Cbl Proto-Oncogene C, E3 Ubiquitin Protein Ligase

(Previous names: Cas-Br-M (murine) ectropic retroviral transforming sequence...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cbl Proto-Oncogene C, E3 Ubiquitin Protein Ligase1 2     SH3-Binding Protein CBL-C2 3
Cas-Br-M (Murine) Ecotropic Retroviral Transforming Sequence C1 2     CBL-32
Cas-Br-M (Murine) Ectropic Retroviral Transforming Sequence C1 2     CBL-SL2
Signal Transduction Protein CBL-C2 3     Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase C2
RNF572 3     E3 Ubiquitin-Protein Ligase CBL-C2
RING Finger Protein 572 3     CBL33
SH3-Binding Protein CBL-32 3     EC 6.3.2.-3

External Ids:    HGNC: 159611   Entrez Gene: 236242   Ensembl: ENSG000001422737   OMIM: 6084535   UniProtKB: Q9ULV83   

Export aliases for CBLC gene to outside databases

Previous GC identifers: GC19P045925 GC19P045672 GC19P049957 GC19P049972 GC19P041713


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CBLC Gene:
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell
signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene
may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Feb 2012)

GeneCards Summary for CBLC Gene:
CBLC (Cbl proto-oncogene C, E3 ubiquitin protein ligase) is a protein-coding gene. GO annotations related to this gene include signal transducer activity and calcium ion binding. An important paralog of this gene is CBLB.

UniProtKB/Swiss-Prot: CBLC_HUMAN, Q9ULV8
Function: 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. Functionally coupled
with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction;
upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation.
Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory
checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it
from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival

Gene Wiki entry for CBLC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBLC gene promoter:
         p300   HTF   GCNF   AP-4   XBP-1   AP-2gamma   HEN1   NRF-2   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBLC promoter sequence
   Search Chromatin IP Primers for CBLC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBLC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.2

CBLC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBLC gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045281:  view genomic region     (about GC identifiers)

Start:
45,281,126 bp from pter      End:
45,303,903 bp from pter
Size:
22,778 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CBLC_HUMAN, Q9ULV8 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase CBL-C  
Size: 474 amino acids; 52456 Da
Subunit: Interacts with ubiquitin-conjugating enzyme E2 UBE2D2 and UBE2D3. Isoform 1 interacts with EGFR (tyrosine
phosphorylated). Interacts with the SH3 domain proteins LYN and CRK. Interacts (via RING-type zinc finger) with
TGFB1I1 (via LIM zinc-binding domain 2); the interaction is direct and enhances the E3 activity. Interacts
directly with RET (inactive) and CD2AP; dissociates from RET upon RET activation by GDNF which also increases the
interaction with CD2AP suggesting dissociation as CBLC:CD2AP complex. Interacts with SRC; the interaction is
enhanced when SRC is phosphorylated at 'Tyr-419'
Miscellaneous: This protein has one functional calcium-binding site
6 PDB 3D structures from and Proteopedia for CBLC:
3OP0 (3D)        3VRN (3D)        3VRO (3D)        3VRP (3D)        3VRQ (3D)        3VRR (3D)    
Secondary accessions: Q8N1E5 Q9Y5Z2 Q9Y5Z3
Alternative splicing: 2 isoforms:  Q9ULV8-1   Q9ULV8-2   

Explore the universe of human proteins at neXtProt for CBLC: NX_Q9ULV8

Explore proteomics data for CBLC at MOPED

Post-translational modifications: 

  • Phosphorylated on multiple tyrosine residues by SRC. Isoform 1, but not isoform 2, is phosphorylated on tyrosines
    by EGFR1
  • Autoubiquitinated when phosphorylated at Tyr-341, enhanced by SRC; suggesting proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CBLC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124324.1  NP_036248.3  

    ENSEMBL proteins: 
     ENSP00000270279   ENSP00000340250  

    CBLC Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for CBLC
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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for CBLC (4 products) 

     
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    antibodies-online antibodies for CBLC (34 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 10):
     IPR001841 Znf_RING
     IPR011992 EF-hand-dom_pair
     IPR014742 Adaptor_Cbl_SH2-like
     IPR024162 Adaptor_Cbl
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q9ULV8

    ProtoNet protein and cluster: Q9ULV8

    2 Blocks protein domains:
    IPB001841 Zn-finger
    IPB003153 Adaptor protein Cbl


    UniProtKB/Swiss-Prot: CBLC_HUMAN, Q9ULV8
    Domain: EF-hand-like and Sh2-like domains are required for N-terminal inhibition of E3 activity (PubMed:20525694)
    Domain: 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
    Domain: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity)
    Similarity: Contains 1 Cbl-PTB (Cbl-type phosphotyrosine-binding) domain
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with CBLC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBLC_HUMAN, Q9ULV8
    Function: 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. Functionally coupled
    with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction;
    upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation.
    Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory
    checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it
    from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival
    Enzyme regulation: Phosphorylation at Tyr-341 is necessary and sufficient for the activation of E3 activity

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001784phosphotyrosine binding IDA14661060
    GO:0004842ubiquitin-protein ligase activity IDA14661060
    GO:0004871signal transducer activity IEA--
    GO:0005154epidermal growth factor receptor binding IDA10362357
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with CBLC           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cblc):
     normal 

    Find genes that share phenotypes with CBLC           About GenesLikeMe

    Animal Models:
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    hsa-mir-26b-5p (MIRT029439)

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    3 qRT-PCR Assays for microRNAs that regulate CBLC:
    hsa-miR-4283 hsa-miR-3176 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidCBLC 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    lysosome1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with CBLC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CBLC About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1ErbB signaling pathway
    ErbB signaling pathway0.52
    ErbB signaling pathway0.52
    2Chronic myeloid leukemia
    Chronic myeloid leukemia0.42
    3B cell receptor signaling pathway (KEGG)
    T cell receptor signaling pathway0.38
    4Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    5Translation Insulin regulation of translation
    Insulin signaling pathway0.32


    Find genes that share SuperPaths with CBLC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CBLC
        EGFR1 Signaling Pathway
    Insulin Signaling
    ErbB signaling pathway



    Selected Kegg Pathways  (Kegg details for CBLC) (see all 10):
        ErbB signaling pathway
    Ubiquitin mediated proteolysis
    Endocytosis
    Jak-STAT signaling pathway
    T cell receptor signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including CBLC: 
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CBLC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CBLC (Q9ULV82, 3 ENSP000002702794) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J022, 3, ENSP000003639984MINT-58341 MINT-58330 MINT-58290 MINT-58329 MINT-58340 I2D: score=2 STRING: ENSP00000363998
    SHC1P293532, 3, ENSP000004013034MINT-8250712 I2D: score=2 STRING: ENSP00000401303
    ABI1Q8IZP02, 3, ENSP000003653124MINT-7908378 I2D: score=1 STRING: ENSP00000365312
    NACADO150692, 3MINT-8250690 I2D: score=2 
    SH3GL3Q999632, 3MINT-8250701 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007166cell surface receptor signaling pathway IEA--
    GO:0007175negative regulation of epidermal growth factor-activated receptor activity IDA10362357
    GO:0042059negative regulation of epidermal growth factor receptor signaling pathway IDA10362357
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA14661060
    GO:0043407negative regulation of MAP kinase activity IDA10362357

    Find genes that share ontologies with CBLC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CBLC

    5 HMDB Compounds for CBLC    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 Novoseek inferred chemical compound relationship for CBLC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 43.4 1 12177062 (1)



    Find genes that share compounds with CBLC           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CBLC gene (2 alternative transcripts): 
    NM_001130852.1  NM_012116.3  

    Unigene Cluster for CBLC:

    Cbl proto-oncogene, E3 ubiquitin protein ligase C
    Hs.466907  [show with all ESTs]
    Unigene Representative Sequence: NM_012116
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000270279(uc002ozs.3) ENST00000341505(uc010ejt.3)
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    Additional mRNA sequence: 

    AB028645.1 AF117646.1 AF117647.1 BC028915.1 

    4 DOTS entries:

    DT.40198635  DT.91671842  DT.100736481  DT.86857280 

    Selected AceView cDNA sequences (see all 38):

    BM831524 BM770284 BC028915 BM018276 BG742803 BE794642 BM791657 AI801220 
    BM770422 AI758472 AB028645 BM746909 BM857034 AF117647 AI660567 BE464528 
    AF117646 NM_012116 BE900379 AI368245 AW293215 BG248143 BE735303 BE903324 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CBLC    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                  
    SP2:                          -                                       


    ECgene alternative splicing isoforms for CBLC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CBLC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTCCACAT
    CBLC Expression
    About this image

    CBLC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBLC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.466907

    UniProtKB/Swiss-Prot: CBLC_HUMAN, Q9ULV8
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including CBLC: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBLC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CBLC gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cblc1 , 5 Casitas B-lineage lymphoma c1, 5 80.02(n)1
    75.69(a)1
      7 (9.94 cM)5
    807941  NM_023224.51  NP_075713.31 
     197788815 
    lizard
    (Anolis carolinensis)
    Reptilia CBLC6
    Cbl proto-oncogene C, E3 ubiquitin protein ligase
    55(a)
    1 ↔ 1
    AAWZ02037515(2344-15485)
    zebrafish
    (Danio rerio)
    Actinopterygii CBLC6
    Cbl proto-oncogene C, E3 ubiquitin protein ligase
    40(a)
    1 ↔ 1
    16(28000382-28040100) ENSDARG00000078217
    fruit fly
    (Drosophila melanogaster)
    Insecta Cbl6
    Cbl
    22(a)
    1 → many
    3L(8418054-8425346)
    worm
    (Caenorhabditis elegans)
    Secernentea sli-16
    Protein SLI-1, isoform b (sli-1) mRNA, complete cd...
    32(a)
    1 → many
    X(720326-725957) WBGene00004829


    ENSEMBL Gene Tree for CBLC (if available)
    TreeFam Gene Tree for CBLC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBLC gene
    CBLB2  CBL2  
    2 SIMAP similar genes for CBLC using alignment to 1 protein entry:     CBLC_HUMAN:
    CBLB    CBL

    Find genes that share paralogs with CBLC           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CBLC (see all 742)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129770541,2
    C--41736182(+) atactG/Ccagcc 2 -- ds50011Minor allele frequency- C:0.00NA 2
    rs29651101,2
    C--41736227(-) gggagA/Gagggg 2 -- ds50010--------
    rs29274401,2
    C--41736276(-) ctcctA/Gggtct 2 -- ds50010--------
    rs65091711,2
    C,A--45279157(+) ccagcA/Gttgtg 2 -- us2k12Minor allele frequency- G:0.23WA 120
    rs3698698361,2
    C--45279247(+) AAAAA-/CTAAAAA 2 -- us2k10--------
    rs1929271321,2
    --45279296(+) GTAGTC/TCTAGT 2 -- us2k10--------
    rs29651431,2
    C,F,A--45279340(+) gccccA/Ggaggt 2 -- us2k16Minor allele frequency- G:0.30NA CSA WA EA 362
    rs106754881,2
    C--45279419(+) tcaaa-/AAAAT 
            
    aaaat
    2 -- us2k10--------
    rs358396431,2
    C--45279420(+) CAAAA-/AAAAT 
            
    AAATA
    2 -- us2k10--------
    rs1433782951,2
    --45279499(+) ATTTGC/TGATCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CBLC (45281126 - 45303903 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CBLC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833841CNV Loss17160897
    nsv912116CNV Loss21882294
    nsv2506CNV Loss18451855
    dgv3945n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CBLC
    DNA2.0 Custom Variant and Variant Library Synthesis for CBLC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608453    OMIM disorders: --


    Find genes that share disorders with CBLC           About GenesLikeMe


    Export disorders for CBLC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CBLC gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CBLC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cbl-3: a new mammalian cbl family protein. (PubMed id 10362357)1, 2, 3, 9 Keane M.M.... Lipkowitz S. (Oncogene 1999)
    2. Molecular cloning and characterization of a novel cbl-family gene, cbl-c. (PubMed id 10571044)1, 2, 3 Kim M.... Yamamoto T. (Gene 1999)
    3. CD2AP and Cbl-3/Cbl-c constitute a critical checkpoint in the regulation of ret signal transduction. (PubMed id 18753381)1, 2, 9 Tsui C.C. and Pierchala B.A. (J. Neurosci. 2008)
    4. Cbl-c ubiquitin ligase activity is increased via the interaction of its RING finger domain with a LIM domain of the paxillin homolog, Hic 5. (PubMed id 23145173)1, 2 Ryan P.E....Lipkowitz S. (PLoS ONE 2012)
    5. Structural flexibility regulates phosphopeptide-binding activity of the tyrosine kinase binding domain of Cbl-c. (PubMed id 22888118)1, 2 Takeshita K....Nakagawa A. (J. Biochem. 2012)
    6. The N terminus of Cbl-c regulates ubiquitin ligase activity by modulating affinity for the ubiquitin-conjugating enzyme. (PubMed id 20525694)1, 2 Ryan P.E....Lipkowitz S. (J. Biol. Chem. 2010)
    7. Cbl-c suppresses v-Src-induced transformation through ubiquitin-dependent protein degradation. (PubMed id 14661060)1, 2 Kim M....Yamamoto T. (Oncogene 2004)
    8. CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases. (PubMed id 12177062)1, 9 Szymkiewicz I....Dikic I. (J. Biol. Chem. 2002)
    9. Direct and indirect control of mitogen-activated protein kinase pathway-associated components, BRAP/IMP E3 ubiquitin ligase and CRAF/RAF1 kinase, by the deubiquitylating enzyme USP15. (PubMed id 23105109)1 Hayes S.D....UrbAc S. (J. Biol. Chem. 2012)
    10. Systematic analysis of dimeric E3-RING interactions reveals increased combinatorial complexity in human ubiquitination networks. (PubMed id 22493164)1 Woodsmith J....Sanderson C.M. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23624 HGNC: 15961 AceView: CBLC Ensembl:ENSG00000142273 euGenes: HUgn23624
    ECgene: CBLC Kegg: 23624 H-InvDB: CBLC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CBLC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CBLC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CBLC gene:
    Search GeneIP for patents involving CBLC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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