Gene Detail

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Gene Symbol CBLB
Synonyms Cbl-b | Nbla00127 | RNF56
Gene Description CBLB, Cbl proto-oncogene B, is an E3 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, PMID: 30442330). 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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
868 3 3q13.11 NM_170662 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A215T missense unknown CBLB A215T lies within the Cbl-PTB domain of the Cblb protein (UniProt.org). A215T has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
A914* nonsense loss of function - predicted CBLB A914* results in a premature truncation of the Cblb protein at amino acid 914 of 982 (UniProt.org). A914* retains the ability to deregulate Egfr and activated cSrc, but abolishes the binding to high molecular weight ubiquitinated proteins in culture (PMID: 15273720), and therefore, is predicted to lead to a loss of Cblb protein function.
C224F missense unknown CBLB C224F lies within 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, Jul 2020).
C373A missense loss of function CBLB C373A lies within the RING-type zing finger domain of the Cblb protein (UniProt.org). C373A retains the ability to bind high molecular weight ubiquitinated proteins, but abolishes the E3 ligase activity of Cblb, and fails to deregulate Egfr and activated cSrc in culture (PMID: 15273720, PMID: 11375397).
D221Y missense unknown CBLB D221Y lies within 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, Jul 2020).
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, Jul 2020).
D448N missense unknown CBLB D448N does not lie within any known functional domains of the Cblb protein (UniProt.org). D448N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
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, Jul 2020).
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, Jul 2020).
D759E missense unknown CBLB D759E does not lie within any known functional domains of the Cblb protein (UniProt.org). D759E has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
dec exp none no effect CBLB dec exp indicates decreased expression of the Cblb protein. However, the mechanism causing the decreased expression is unspecified.
del deletion loss of function CBLB del indicates a deletion of the CBLB gene.
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.
E135D missense unknown CBLB E135D lies within the Cbl-PTB domain of the Cblb protein (UniProt.org). E135D has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
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, Jul 2020).
F197Y missense unknown CBLB F197Y lies within 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, Jul 2020).
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, Jul 2020).
F814L missense unknown CBLB F814L does not lie within any known functional domains of the Cblb protein (UniProt.org). F814L has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
G323V missense unknown CBLB G323V lies within 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, Jul 2020).
G658A missense unknown CBLB G658A does not lie within any known functional domains of the Cblb protein (UniProt.org). G658A has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
G943A missense unknown CBLB G943A lies within the UBA domain of the Cblb protein (UniProt.org). G943A abolishes ubiquitin binding of the UBA domain of Cblb when combined with Y944Q in an in vitro assay (PMID: 15273720), but has not been individually characterized and therefore, its effect on Cblb protein function is unknown.
G943_Y944delinsAQ indel loss of function - predicted CBLB G943_Y944delinsAQ results in a deletion of two amino acids in the UBA domain of the Cblb protein from amino acids 943 to 944, combined with the insertion of an alanine (A) and a glutamine (G) at the same site (UniProt.org). G943_Y944delinsAQ abolishes ubiquitin binding of the UBA domain as compared to wild-type Cblb in an in vitro assay (PMID: 15273720), and therefore, is predicted to lead to a loss of Cblb protein function.
H152L missense unknown CBLB H152L lies within 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, Jul 2020).
H257Y missense unknown CBLB H257Y lies within 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, Jul 2020).
I149M missense unknown CBLB I149M lies within 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, Jul 2020).
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, Jul 2020).
I77V missense unknown CBLB I77V lies within 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, Jul 2020).
inact mut unknown loss of function CBLB inact mut indicates that this variant results in a loss of function of the Cblb protein. However, the specific amino acid change has not been identified.
K217T missense unknown CBLB K217T lies within 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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
L967A missense unknown CBLB L967A lies within the UBA domain of the Cblb protein (UniProt.org). L967A has been identified in the scientific literature (PMID: 15273720), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
mutant unknown unknown CBLB mutant indicates an unspecified mutation in the CBLB gene.
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
Q318E missense unknown CBLB Q318E lies within 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, Jul 2020).
R141Q missense unknown CBLB R141Q lies within the Cbl-PTB domain of the Cblb protein (UniProt.org). R141Q has been identified in sequencing studies (PMID: 24755471, PMID: 29937994), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
R272Q missense unknown CBLB R272Q lies within 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, Jul 2020).
R325G missense unknown CBLB R325G lies within 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, Jul 2020).
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, Jul 2020).
R58K missense unknown CBLB R58K lies within 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, Jul 2020).
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, Jul 2020).
R734W missense unknown CBLB R734W does not lie within any known functional domains of the Cblb protein (UniProt.org). R734W has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
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, Jul 2020).
S484* nonsense loss of function - predicted CBLB S484* results in a premature truncation of the Cblb protein at amino acid 484 of 982 (UniProt.org). S484* results in the loss of binding to ubiquitinated proteins as compared to wild-type Cblb in culture (PMID: 15273720), and therefore, is predicted to lead to a loss of Cblb protein function.
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, Jul 2020).
T687S missense unknown CBLB T687S does not lie within any known functional domains of the Cblb protein (UniProt.org). T687S has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
V654I missense unknown CBLB V654I does not lie within any known functional domains of the Cblb protein (UniProt.org). V654I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
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, Jul 2020).
W400L missense unknown CBLB W400L lies within the RING-type zinc finger domain of the Cblb protein (UniProt.org). W400L has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cblb protein function is unknown (PubMed, Jul 2020).
W400R missense unknown CBLB W400R lies within the RING-type zinc finger domain 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, Jul 2020).
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, Jul 2020).
Y944Q missense unknown CBLB Y944Q lies within the UBA domain of the Cblb protein (UniProt.org). Y944Q abolishes ubiquitin binding of the UBA domain of Cblb when combined with G943A in an in vitro assay (PMID: 15273720), but has not been individually characterized and therefore, its effect on Cblb protein function is unknown.