Gene Detail

Gene Symbol CBLB
Synonyms Cbl-b | Nbla00127 | RNF56
Gene Description CBLB, Cbl proto-oncogene B, is a ubiquitin ligase that negatively regulates receptor tyrosine kinase signaling through targeted degradation of active kinases, and is a key regulator of the immune system (PMID: 25477533). CBLB mutations have been observed in myeloid neoplasms, and loss of CBLB in mouse models results in increased anti-tumor immunity (PMID: 19901108, PMID: 25477533).
Entrez Id 868
Chromosome 3
Map Location 3q13.11
Canonical Transcript NM_170662

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
L23W missense unknown CBLB L23W does not lie within any known functional domains of the Cblb protein (UniProt.org). L23W has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R325G missense unknown CBLB R325G lies within the SH2-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). R325G has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R58K missense unknown CBLB R58K lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). R58K has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R670W missense unknown CBLB R670W does not lie within any known functional domains of the Cblb protein (UniProt.org). R670W has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
F814L missense unknown CBLB F814L does not lie within any known functional domains of the Cblb protein (UniProt.org). F814L has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R468Q missense unknown CBLB R468Q does not lie within any known functional domains of the Cblb protein (UniProt.org). R468Q has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
W194C missense unknown CBLB W194C lies within the Cbl-PTB domain of the Cblb protein (UniProt.org). W194C has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
D430N missense unknown CBLB D430N does not lie within any known functional domains of the Cblb protein (UniProt.org). D430N has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
P824S missense unknown CBLB P824S does not lie within any known functional domains of the Cblb protein (UniProt.org). P824S has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R979C missense unknown CBLB R979C does not lie within any known functional domains of the Cblb protein (UniProt.org). R979C has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
del deletion loss of function CBLB del indicates a deletion of the CBLB gene.
R884I missense unknown CBLB R884I does not lie within any known functional domains of the Cblb protein (UniProt.org). R884I has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
E135D missense unknown CBLB E135D lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). E135D has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
H257Y missense unknown CBLB H257Y lies within the SH2-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). H257Y has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
I619M missense unknown CBLB I619M does not lie within any known functional domains of the Cblb protein (UniProt.org). I619M has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
K217T missense unknown CBLB K217T lies within the EF-hand-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). K217T has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
W400R missense unknown CBLB W400R does not lie within any known functional domains of the Cblb protein (UniProt.org). W400R has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
P674L missense unknown CBLB P674L does not lie within any known functional domains of the Cblb protein (UniProt.org). P674L has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
A215T missense unknown CBLB A215T lies within the EF-hand-like region of the Cblb protein (UniProt.org). A215T has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
D448Y missense unknown CBLB D448Y does not lie within any known functional domains of the Cblb protein (UniProt.org). D448Y has not been characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
I149M missense unknown CBLB I149M lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). I149M has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
L743P missense unknown CBLB L743P does not lie within any known functional domains of the Cblb protein (UniProt.org). L743P has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
E358G missense unknown CBLB E358G lies within the linker region of the Cblb protein (UniProt.org). E358G has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
P674S missense unknown CBLB P674S does not lie within any known functional domains of the Cblb protein (UniProt.org). P674S has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
P428S missense unknown CBLB P428S does not lie within any known functional domains of the Cblb protein (UniProt.org). P428S has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
E127* nonsense loss of function - predicted CBLB E127* results in a premature truncation of the Cblb protein at amino acid 127 of 982 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E127* is predicted to lead to a loss of Cblb protein function.
D448N missense unknown CBLB D448N does not lie within any known functional domains of the Cblb protein (UniProt.org). D448N has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R884K missense unknown CBLB R884K does not lie within any known functional domains of the Cblb protein (UniProt.org). R884K has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
G658A missense unknown CBLB G658A does not lie within any known functional domains of the Cblb protein (UniProt.org). G658A has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
Y665C missense unknown CBLB Y665C does not lie within any known functional domains of the Cblb protein (UniProt.org). Y665C has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
T687S missense unknown CBLB T687S does not lie within any known functional domains of the Cblb protein (UniProt.org). T687S has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
P858T missense unknown CBLB P858T does not lie within any known functional domains of the Cblb protein (UniProt.org). P858T has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
F197Y missense unknown CBLB F197Y lies within the EF-hand-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). F197Y has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
D759E missense unknown CBLB D759E does not lie within any known functional domains of the Cblb protein (UniProt.org). D759E has not been characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
L764V missense unknown CBLB L764V does not lie within any known functional domains of the Cblb protein (UniProt.org). L764V has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
Q318E missense unknown CBLB Q318E lies within the SH2-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). Q318E has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
S147F missense unknown CBLB S147F lies within the Cbl-PTB domain of the Cblb protein (UniProt.org). S147F has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
S718F missense unknown CBLB S718F does not lie within any known functional domains of the Cblb protein (UniProt.org). S718F has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
D221Y missense unknown CBLB D221Y lies within the EF-hand-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). D221Y has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R141Q missense unknown CBLB R141Q lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). R141Q has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
V654I missense unknown CBLB V654I does not lie within any known functional domains of the Cblb protein (UniProt.org). V654I has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R734W missense unknown CBLB R734W does not lie within any known functional domains of the Cblb protein (UniProt.org). R734W has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
G323V missense unknown CBLB G323V lies within the SH2-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). G323V has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
dec exp none no effect CBLB dec exp indicates decreased expression of the Cblb protein. However, the mechanism causing the decreased expression is unspecified.
F814C missense unknown CBLB F814C does not lie within any known functional domains of the Cblb protein (UniProt.org). F814C has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
H152L missense unknown CBLB H152L lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). H152L has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
W400L missense unknown CBLB W400L does not lie within any known functional domains of the Cblb protein (UniProt.org). W400L has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
D452N missense unknown CBLB D452N does not lie within any known functional domains of the Cblb protein (UniProt.org). D452N has not been characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
I77V missense unknown CBLB I77V lies within the 4H region in the Cbl-PTB domain of the Cblb protein (UniProt.org). I77V has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
C224F missense unknown CBLB C224F lies within the EF-hand-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). C224F has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R272Q missense unknown CBLB R272Q lies within the SH2-like region in the Cbl-PTB domain of the Cblb protein (UniProt.org). R272Q has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
R782M missense unknown CBLB R782M does not lie within any known functional domains of the Cblb protein (UniProt.org). R782M has not been characterized in the scientific literature and therefore, its effect on Cblb protein function is unknown (PubMed, Sep 2018).
Molecular Profile Protein Effect Treatment Approaches
CBLB L23W unknown
CBLB R325G unknown
CBLB R58K unknown
CBLB R670W unknown
CBLB F814L unknown
CBLB R468Q unknown
CBLB W194C unknown
CBLB D430N unknown
CBLB P824S unknown
CBLB R979C unknown
CBL del CBLB del
CBLB del loss of function
CBLB R884I unknown
CBLB E135D unknown
CBLB H257Y unknown
CBLB I619M unknown
CBLB K217T unknown
CBLB W400R unknown
CBLB P674L unknown
CBLB A215T unknown
CBLB D448Y unknown
CBLB I149M unknown
CBLB L743P unknown
CBLB E358G unknown
CBLB P674S unknown
CBLB P428S unknown
CBLB E127* loss of function - predicted
CBLB D448N unknown
CBLB R884K unknown
CBLB G658A unknown
CBLB Y665C unknown
CBLB T687S unknown
CBLB P858T unknown
CBLB F197Y unknown
CBLB D759E unknown
CBLB L764V unknown
CBLB Q318E unknown
CBLB S147F unknown
CBLB S718F unknown
CBLB D221Y unknown
CBLB R141Q unknown
CBLB V654I unknown
CBLB R734W unknown
CBLB G323V unknown
CBLB dec exp no effect
CBLB F814C unknown
CBLB H152L unknown
CBLB W400L unknown
CBLB D452N unknown
CBLB I77V unknown
CBLB C224F unknown
CBLB R272Q unknown
CBLB R782M unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CBL del CBLB del bone marrow cancer predicted - sensitive Fasudil Preclinical Actionable In a preclinical study, Fasudil (HA-1077) selectively inhibited proliferation of CBL and CBLB double knockout hematopoietic stem/progenitor cells in a mouse model of myeloproliferative disorder (PMID: 26177294). 26177294
CBLB dec exp stomach cancer decreased response Fluorouracil Preclinical Actionable In a preclinical study, gastric cancer cell lines with decreased Cblb expression level via shRNA knockdown demonstrated reduced sensitivity to Adrucil (fluorouracil) in cell culture (PMID: 24351824). 24351824