Gene Detail

Gene Symbol FOXL2
Synonyms BPES | BPES1 | PFRK | PINTO | POF3
Gene Description FOXL2, forkhead box L2, encodes for a transcription factor that is a member of the forked-winged helix family and plays a role in ovary development (PMID: 21640373). FOXL2 is commonly mutated in granulosa-cell tumors (PMID: 19956657).
Entrez Id 668
Chromosome 3
Map Location 3q22.3
Canonical Transcript NM_023067

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E139K missense unknown FOXL2 E139K lies within the DNA binding region of the Foxl2 protein (UniProt.org). E139K has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
G121S missense unknown FOXL2 G121S lies within the DNA binding region of the Foxl2 protein (UniProt.org). G121S has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
S58L missense loss of function FOXL2 S58L lies within the DNA binding region of the Foxl2 protein (UniProt.org). S58L results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
I84N missense loss of function FOXL2 I84N lies within the DNA binding region of the Foxl2 protein (UniProt.org). I84N results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
R146P missense unknown FOXL2 R146P lies within the DNA binding domain of the Foxl2 protein (UniProt.org). R146P has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
I80T missense loss of function FOXL2 I80T lies within the DNA binding region of the Foxl2 protein (UniProt.org). I80T results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
amp none no effect FOXL2 amplification indicates an increased number of copies of the FOXL2 gene. However, the mechanism causing the increase is unspecified.
S217C missense no effect - predicted FOXL2 S217C does not lie within any known functional domains of the Foxl2 protein (UniProt.org). S217C demonstrates transactivation capacity similar to wild-type Foxl2 protein in culture in one study (PMID: 19515849) and therefore, is predicted to have no effect on Foxl2 protein function.
N109K missense unknown FOXL2 N109K lies within the DNA binding region of the Foxl2 protein (UniProt.org). The functional effect of N109K is conflicting as it results in impaired ability to transactivate target genes in culture in one study (PMID: 18372316), but demonstrates transcriptional activity similar to wild-type Foxl2 in another study (PMID: 19515849).
R103C missense unknown FOXL2 R103C lies within the DNA-binding region of the Foxl2 protein (UniProt.org). The functional effect of R103C is conflicting as it results in abnormal nuclear and cytoplasmic aggregation of Foxl2 protein but normal transcriptional activity in one study (PMID: 18372316), and demonstrates impaired transactivation capacity in culture in another study (PMID: 19515849).
F90S missense loss of function FOXL2 F90S lies within the DNA binding region of the Foxl2 protein (UniProt.org). F90S results in nuclear and cytoplasmic aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
R147L missense unknown FOXL2 R147L lies within the DNA binding domain of the Foxl2 protein (UniProt.org). R147L has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
G38S missense unknown FOXL2 G38S does not lie within any known functional domains of the Foxl2 protein (UniProt.org). G38S has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
W204* nonsense loss of function FOXL2 W204* results in a premature truncation of the Foxl2 protein at amino acid 204 of 376 (UniProt.org). W204* results in nuclear aggregation and impaired transactivation capacity of Foxl2 protein in culture (PMID: 19515849).
Y215C missense unknown FOXL2 Y215C does not lie within any known functional domains of the Foxl2 protein (UniProt.org). The functional effect of Y215C is conflicting as it results in abnormal nuclear aggregation of Foxl2 protein but demonstrates transcriptional activity similar to wild-type protein in culture (PMID: 19515849).
I63T missense loss of function FOXL2 I63T lies within the DNA binding region of the Foxl2 protein (UniProt.org). I63T results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
L106F missense loss of function FOXL2 L106F lies within the DNA binding region of the Foxl2 protein (UniProt.org). L106F results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
E69D missense unknown FOXL2 E69D lies within the DNA binding region of the Foxl2 protein (UniProt.org). E69D has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
T76M missense unknown FOXL2 T76M lies within the DNA binding domain of the Foxl2 protein (UniProt.org). T76M has not been characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
G43R missense unknown FOXL2 G43R does not lie within any known functional domains of the Foxl2 protein (UniProt.org). G43R has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
K193S missense unknown FOXL2 K193S does not lie within any known functional domains of the Foxl2 protein (UniProt.org). The functional effect of K193S is conflicting as it results in nuclear aggregation of Foxl2 protein but demonstrates transcriptional activity similar to wild-type protein in culture (PMID: 19515849).
Q219* nonsense loss of function FOXL2 Q219* results in a premature truncation of the Foxl2 protein at amino acid 219 of 376 (UniProt.org). Q219* results in nuclear aggregation and impaired transactivation capacity of Foxl2 protein in culture (PMID: 19515849).
W98G missense loss of function FOXL2 W98G lies within the DNA binding domain of the Foxl2 protein (UniProt.org). W98G results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
H104N missense no effect - predicted FOXL2 H104N lies within the DNA-binding region of the Foxl2 protein (UniProt.org). H104N demonstrates transactivation capacity similar to wild-type Foxl2 protein in culture in one study (PMID: 19515849) and therefore, is predicted to have no effect on Foxl2 protein function.
L108P missense loss of function - predicted FOXL2 L108P lies within the DNA-binding region of the Foxl2 protein (UniProt.org). L108P results in impaired transactivation capacity of Foxl2 protein in culture in one study (PMID: 19515849) and therefore, is predicted to lead to a loss of Foxl2 protein function.
E69Q missense unknown FOXL2 E69Q lies within the DNA binding region of the Foxl2 protein (UniProt.org). E69Q has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
A253fs frameshift loss of function - predicted FOXL2 A253fs results in a change in the amino acid sequence of the Foxl2 protein beginning at aa 253 of 376, likely resulting in premature truncation of the functional protein (UniProt.org). A253fs results in impaired transactivation capacity of Foxl2 protein in culture (PMID: 19515849).
P116Q missense unknown FOXL2 P116Q lies within the DNA binding region of the Foxl2 protein (UniProt.org). P116Q has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
E352K missense unknown FOXL2 E352K does not lie within any known functional domains of the Foxl2 protein (UniProt.org). E352K has not been characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
A331V missense unknown FOXL2 A331V does not lie within any known functional domains of the Foxl2 protein (UniProt.org). A331V has not been characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
I102T missense loss of function FOXL2 I102T lies within the DNA binding region of the Foxl2 protein (UniProt.org). I102T results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
wild-type none no effect Wild-type FOXL2 indicates that no mutation has been detected within the FOXL2 gene.
E69K missense unknown FOXL2 E69K lies within the DNA binding region of the Foxl2 protein (UniProt.org). The functional effect of E69K is conflicting as it results in abnormal nuclear aggregation of the Foxl2 protein but also demonstrates transcriptional activity similar to wild-type protein in culture (PMID: 18372316).
C134W missense gain of function FOXL2 C134W lies within the DNA binding domain of the Foxl2 protein (UniProt.org). C134W alters Foxl2 transcriptional regulation, resulting in the increased production of the target gene CYP19A1 (aromatase) (PMID: 21188138) and induces proliferation of ovarian granulosa cells (PMID: 28276867).
I63fs frameshift loss of function - predicted FOXL2 I63fs results in a change in the amino acid sequence of the Foxl2 protein beginning at aa 63 of 376, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to a loss of the DNA binding domain (UniProt.org), I63fs is predicted to result in a loss of Foxl2 protein function.
L106P missense loss of function FOXL2 L106P lies within the DNA binding region of the Foxl2 protein (UniProt.org). L106P results in cytoplasmic and nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
S217F missense gain of function FOXL2 S217F does not lie within any known functional domains of the Foxl2 protein (UniProt.org). S217F results in increased transcriptional activity of Foxl2 protein in culture (PMID: 18372316, PMID: 19515849).
N109S missense unknown FOXL2 N109S lies within the DNA binding region of the Foxl2 protein (UniProt.org). N109S has not been characterized in the scientific literature and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
E118K missense unknown FOXL2 E118K lies within the DNA binding region of the Foxl2 protein (UniProt.org). E118K has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, Aug 2018).
S70I missense loss of function FOXL2 S70I lies within the DNA binding region of the Foxl2 protein (UniProt.org). S70I results in cytoplasmic aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
A66V missense loss of function FOXL2 A66V lies within the DNA binding region of the Foxl2 protein (UniProt.org). A66V results in Foxl2 protein aggregation and impaired ability to transactivate target genes in culture (PMID: 18372316).
S101R missense loss of function FOXL2 S101R lies within the DNA binding region of the Foxl2 protein (UniProt.org). S101R results in nuclear aggregation of the Foxl2 protein and impaired ability to transactivate target genes in culture (PMID: 18372316).
H104R missense no effect FOXL2 H104R lies within the DNA-binding region of the Foxl2 protein (UniProt.org). H104R demonstrates cellular localization and transcriptional activity similar to wild-type Foxl2 protein in culture (PMID: 18372316).
I84S missense loss of function FOXL2 I84S lies within the DNA-binding region of the Foxl2 protein (UniProt.org). I84S results in nuclear and cytoplasmic aggregation of the Foxl2 protein and impaired transactivation capacity in culture (PMID: 19515849).
F167* nonsense loss of function - predicted FOXL2 F167* results in a premature truncation of the Foxl2 protein at amino acid 167 of 376 (UniProt.org). F167* results in impaired transactivation capacity of Foxl2 in culture in one study (PMID: 19515849) and therefore, is predicted to lead to a loss of Foxl2 protein function.
N105S missense unknown FOXL2 N105S lies within the DNA-binding region of the Foxl2 protein (UniProt.org). The functional effect of N105S is conflicting as it results in abnormal nuclear aggregation of Foxl2 protein but also demonstrates transactivation capacity similar to wild-type protein in culture (PMID: 19515849).
Molecular Profile Protein Effect Treatment Approaches
FOXL2 E139K unknown
FOXL2 G121S unknown
FOXL2 S58L loss of function
FOXL2 I84N loss of function
FOXL2 R146P unknown
FOXL2 I80T loss of function
FOXL2 amp no effect
FOXL2 S217C no effect - predicted
FOXL2 N109K unknown
FOXL2 R103C unknown
FOXL2 F90S loss of function
FOXL2 R147L unknown
FOXL2 G38S unknown
FOXL2 W204* loss of function
FOXL2 Y215C unknown
FOXL2 I63T loss of function
FOXL2 L106F loss of function
FOXL2 E69D unknown
FOXL2 T76M unknown
FOXL2 G43R unknown
FOXL2 K193S unknown
FOXL2 Q219* loss of function
FOXL2 W98G loss of function
FOXL2 H104N no effect - predicted
FOXL2 L108P loss of function - predicted
FOXL2 E69Q unknown
FOXL2 A253fs loss of function - predicted
FOXL2 P116Q unknown
FOXL2 E352K unknown
FOXL2 A331V unknown
FOXL2 I102T loss of function
FOXL2 wild-type no effect
FOXL2 E69K unknown
FOXL2 C134W gain of function
FOXL2 I63fs loss of function - predicted
FOXl2 L106P loss of function
FOXL2 S217F gain of function
FOXL2 N109S unknown
FOXL2 E118K unknown
FOXL2 S70I loss of function
FOXL2 A66V loss of function
FOXL2 S101R loss of function
FOXL2 H104R no effect
FOXL2 I84S loss of function
FOXL2 F167* loss of function - predicted
FOXL2 N105S unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FOXL2 C134W granulosa cell tumor not applicable N/A Preclinical Diagnostic FOXL2 C134W mutations are used in the diagnosis of adult granulosa cell tumors of the ovary (PMID: 26791928, PMID: 22240241). 26791928 22240241