Gene Detail

Gene Symbol IKZF1
Synonyms CVID13 | Hs.54452 | IK1 | IKAROS | LyF-1 | LYF1 | PPP1R92 | PRO0758 | ZNFN1A1
Gene Description IKZF1, IKAROS family zinc finger 1 (Ikaros), is a zinc finger transcription factor that regulates hematopoietic differentiation and immune system development, and functions as a tumor suppressor (PMID: 24659638, PMID: 22150303). Mutations in IKZF1 are associated with acute lymphoblastic leukemia (PMID: 24659638, PMID: 22150303).
Entrez Id 10320
Chromosome 7
Map Location 7p12.2
Canonical Transcript NM_006060

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A79E missense unknown IKZF1 A79E does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). A79E has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
E405K missense unknown IKZF1 E405K does not lie within any known functional doamins of the Ikzf1 protein (UniProt.org). E405K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G485V missense unknown IKZF1 G485V does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G485V has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
K116fs frameshift loss of function - predicted IKZF1 K116fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 116 of 519, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known DNA binding and zinc-finger domains (UniProt.org), K116fs is predicted to lead to a loss of Ikzf1 protein function.
P34S missense unknown IKZF1 P34S does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). P34S has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R260K missense unknown IKZF1 R260K does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R260K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
D399G missense unknown IKZF1 D399G does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). D399G has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
S384fs frameshift unknown IKZF1 S384fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 384 of 519, likely resulting in premature truncation of the functional protein (UniProt.org). S384fs has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
amp none no effect IKZF1 amplification indicates an increased number of copies of the IKZF1 gene. However, the mechanism causing the increase is unspecified.
G106E missense unknown IKZF1 G106E does not lie within any known functional doamins of the Ikzf1 protein (UniProt.org). G106E has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G337S missense unknown IKZF1 G337S does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G337S has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
L132F missense unknown IKZF1 L132F lies within the C2H2-type zinc finger 1 region of the Ikzf1 protein (UniProt.org). L132F has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R213* nonsense loss of function - predicted IKZF1 R213* results in a premature truncation of the Ikzf1 protein at amino acid 213 of 519 (UniProt.org). Due to the loss of multiple zinc finger domains (UniProt.org), R213* is predicted to lead to a loss of Ikzf1 protein function.
R433S missense unknown IKZF1 R433S does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R433S has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G43E missense unknown IKZF1 G43E does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G43E has not been biochemically characterized however, the DNA change leads to skipping of exon 6 which results in the loss of the Zinc finger type-1 domain of the Ikzf1 protein (PMID: 29045845).
R511P missense unknown IKZF1 R511P does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R511P has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R143Q missense unknown IKZF1 R143Q does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R143Q has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
C203W missense unknown IKZF1 C203W lies within the C2H2-type zinc finger 4 region of the Ikzf1 protein (UniProt.org). C203W has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
del deletion loss of function IKZF1 del indicates a deletion of the IKZF1 gene.
M92I missense unknown IKZF1 M92I does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). M92I has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G190S missense unknown IKZF1 G190S lies within the C2H2-type zinc finger 3 region of the Ikzf1 protein (UniProt.org). G190S has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R97M missense unknown IKZF1 R97M does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R97M has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G485D missense unknown IKZF1 G485D lies adjacent to the C2H2-type zinc finger 5 region of the Ikzf1 protein (UniProt.org). G485D has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R51T missense unknown IKZF1 R51T does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R51T has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G496C missense unknown IKZF1 G496C does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G496C has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R222C missense unknown IKZF1 R222C lies within the C2H2-type zinc finger 4 region of the Ikzf1 protein (UniProt.org). R222C has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
E513K missense unknown IKZF1 E513K lies within the C2H2-type zinc finger 6 region of the Ikzf1 protein (UniProt.org). E513K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
S427L missense unknown IKZF1 S427L does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). S427L has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
H176L missense unknown IKZF1 H176L lies within the C2H2-type zinc finger 3 region of the Ikzf1 protein (UniProt.org). H176L has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
wild-type none no effect Wild-type IKZF1 indicates that no mutation has been detected within the IKZF1 gene.
R83* nonsense loss of function - predicted IKZF1 R83* results in a premature truncation of the Ikzf1 protein at amino acid 83 of 519 (UniProt.org). Due to a loss of all known functional domains (UniProt.org), R83* is predicted to lead to a loss of Ikzf1 protein function.
D22N missense unknown IKZF1 D22N does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). D22N has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R83Q missense unknown IKZF1 R83Q does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R83Q has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
V53M missense unknown IKZF1 V53M does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). V53M has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
S393R missense unknown IKZF1 S393R does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). S393R has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R502W missense unknown IKZF1 R502W lies within the C2H2-type zinc finger 6 region of the Ikzf1 protein (UniProt.org). R502W has been identified in the scientific literature (PMID: 26321221), but has not been biochemically characterized and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
E300K missense unknown IKZF1 E300K does not lie within any known functional doamins of the Ikzf1 protein (UniProt.org). E300K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G94A missense unknown IKZF1 G94A does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G94A has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
T333M missense unknown IKZF1 T333M does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). T333M has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
E401K missense unknown IKZF1 E401K does not lie within any known functional doamins of the Ikzf1 protein (UniProt.org). E401K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
A441T missense unknown IKZF1 A441T does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). A441T has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
S88L missense unknown IKZF1 S88L does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). S88L has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
A79V missense unknown IKZF1 A79V does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). A79V has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
L283I missense unknown IKZF1 L283I does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). L283I has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
P19L missense unknown IKZF1 P19L does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). P19L has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
A422V missense unknown IKZF1 A422V does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). A422V has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
D28N missense unknown IKZF1 D28N does not lie within any known functional doamins of the Ikzf1 protein (UniProt.org). D28N has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
P233Q missense unknown IKZF1 P233Q does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). P233Q has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R423H missense unknown IKZF1 R423H does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). R423H has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
P19T missense unknown IKZF1 P19T does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). P19T has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
R511* nonsense unknown IKZF1 R511* results in a premature truncation of the Ikzf1 protein at amino acid 511 of 519 (UniProt.org). R511* has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
E465K missense unknown IKZF1 E465K lies within the C2H2-type zinc finger 5 region of the Ikzf1 protein (UniProt.org). E465K has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
G75V missense unknown IKZF1 G75V does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G75V has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
H508R missense unknown IKZF1 H508R does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). H508R has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
Molecular Profile Protein Effect Treatment Approaches
IKZF1 A79E unknown
IKZF1 E405K unknown
IKZF1 G485V unknown
IKZF1 K116fs loss of function - predicted
IKZF1 P34S unknown
IKZF1 R260K unknown
IKZF1 D399G unknown
IKZF1 S384fs unknown
IKZF1 amp no effect
IKZF1 G106E unknown
IKZF1 G337S unknown
IKZF1 L132F unknown
IKZF1 R213* loss of function - predicted
IKZF1 R433S unknown
IKZF1 G43E unknown
IKZF1 R511P unknown
IKZF1 R143Q unknown
IKZF1 C203W unknown
IKZF1 del loss of function
IKZF1 M92I unknown
IKZF1 G190S unknown
IKZF1 R97M unknown
IKZF1 G485D unknown
IKZF1 R51T unknown
IKZF1 G496C unknown
IKZF1 R222C unknown
IKZF1 E513K unknown
IKZF1 S427L unknown
IKZF1 H176L unknown
IKZF1 wild-type no effect
IKZF1 R83* loss of function - predicted
IKZF1 D22N unknown
IKZF1 R83Q unknown
IKZF1 V53M unknown
IKZF1 S393R unknown
IKZF1 R502W unknown
IKZF1 E300K unknown
IKZF1 G94A unknown
IKZF1 T333M unknown
IKZF1 E401K unknown
IKZF1 A441T unknown
IKZF1 S88L unknown
IKZF1 A79V unknown
IKZF1 L283I unknown
IKZF1 P19L unknown
IKZF1 A422V unknown
IKZF1 D28N unknown
IKZF1 P233Q unknown
IKZF1 R423H unknown
IKZF1 P19T unknown
IKZF1 R511* unknown
IKZF1 E465K unknown
IKZF1 G75V unknown
IKZF1 H508R unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IKZF1 del acute lymphocytic leukemia not applicable N/A Clinical Study Prognostic In multiple clinical studies, including a meta-analysis, IKZF1 deletion was associated with a worse event-free survival and overall survival in patients with acute lymphocytic leukemia (PMID: 25335741, PMID: 26194343, PMID: 27067989). 25335741 26194343 27067989
IKZF1 wild-type multiple myeloma sensitive Lenalidomide Preclinical Actionable In a preclinical study, Revlimid (lenalidomide) treatment resulted in IKZF1 degradation and decreased proliferation of multiple myeloma cells in culture (PMID: 24292625). 24292625