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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, PMID: 31162286), including of the ovary (PMID: 32064045).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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).
A331V missense unknown FOXL2 A331V does not lie within any known functional domains of the Foxl2 protein (UniProt.org). A331V has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, May 2020).
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).
act mut unknown gain of function FOXL2 act mut indicates that this variant results in a gain of function in the Foxl2 protein. However, the specific amino acid change has not been identified.
amp none no effect FOXL2 amplification indicates an increased number of copies of the FOXL2 gene. However, the mechanism causing the increase is unspecified.
C134W missense gain of function FOXL2 C134W lies within the DNA binding domain of the Foxl2 protein (UniProt.org). C134W alters transcriptional regulation, resulting in altered DNA binding specificity (PMID: 32641414), increased production of the target gene CYP19A1 (aromatase) (PMID: 21188138), and induces proliferation of ovarian granulosa cells (PMID: 28276867).
E118K missense unknown FOXL2 E118K lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). E118K has been identified in sequencing studies (PMID: 28481359, PMID: 27156442), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, May 2020).
E139K missense unknown FOXL2 E139K lies within the fork-head 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, May 2020).
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, May 2020).
E69D missense unknown FOXL2 E69D lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). E69D has been identified in sequencing studies (PMID: 24185512), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, May 2020).
E69K missense unknown FOXL2 E69K lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). E69K demonstrates activation of MnSOD and Goat FOXL2 promoters similar to wild-type protein in reporter assays (PMID: 18372316, PMID: 19010791), however, results in intermediate levels of SIRT1 promoter activation (PMID: 19010791), and abnormal nuclear aggregation in cell culture (PMID: 18372316), and therefore, its effect on Foxl2 protein function is unknown.
E69Q missense unknown FOXL2 E69Q lies within the fork-head 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, May 2020).
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.
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).
G121S missense unknown FOXL2 G121S lies within the fork-head 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, May 2020).
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, May 2020).
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, May 2020).
H104N missense unknown FOXL2 H104N lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). H104N results in abnormal nuclear and cytoplasmic aggregation in cell culture (PMID: 18372316), however, demonstrates variable levels of promoter activation (PMID: 19515849) as demonstrated by increased SIRT1 and decreased MnSOD activation (PMID: 19010791), and similar Goat FOXL2 promoter activation compared to wild-type protein in reporter assays, and therefore, its effect on Foxl2 protein function is unknown.
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).
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).
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.
I63N missense loss of function - predicted FOXL2 I63N lies within the DNA binding region of the Foxl2 protein (UniProt.org). I63N does not alter subcellular localization of Foxl2, but results in impaired transcriptional repression of target genes in cell culture (PMID: 31823134), and therefore, is predicted to lead to a loss of Foxl2 protein function.
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).
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).
I84N missense loss of function FOXL2 I84N lies within the DNA binding region of the Foxl2 protein (UniProt.org). I84N confers a loss of function to the Foxl2 protein as demonstrated by cytoplasmic and nuclear aggregation of the Foxl2 protein, and impaired ability to transactivate target genes in culture (PMID: 19515849, PMID: 19010791, 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).
inact mut unknown loss of function FOXL2 inact mut indicates that this variant results in a loss of function of the Foxl2 protein. However, the specific amino acid change has not been identified.
K193S missense no effect - predicted FOXL2 K193S does not lie within any known functional domains of the Foxl2 protein (UniProt.org). K193S demonstrates cellular localization and transcriptional activity similar to wild-type Foxl2 in cell culture (PMID: 19515849), and therefore, is predicted to have no effect on Foxl2 protein function.
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).
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).
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.
mutant unknown unknown FOXL2 mutant indicates an unspecified mutation in the FOXL2 gene.
N105S missense unknown FOXL2 N105S lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). N105S results in abnormal nuclear aggregation of Foxl2 protein (PMID: 19515849), and defects in apoptosis (PMID: 24240106), but demonstrates transactivation (PMID: 19515849, PMID: 21289058), XRCC5/6 affinity, and non-homologous end joining (NHEJ) and homologous DNA repair activity (PMID: 32332759) similar to wild-type Foxl2 in culture and therefore, its effect on Foxl2 protein function is unknown.
N109K missense unknown FOXL2 N109K lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). The functional effect of N109K is conflicting as it results in defects in apoptosis (PMID: 24240106), and impaired promoter binding and decreased ability to transactivate target genes in culture in some studies (PMID: 18372316, PMID: 19010791, PMID: 24240106), but in other studies demonstrates transcriptional activity (PMID: 19515849, PMID: 20098707), acetylation, XRCC5/6 affinity, and regulation of non-homologous end joining and homologous recombination similar to wild-type Foxl2 in cell culture (PMID: 32332759), and therefore, its effect on Foxl2 protein function is unknown.
N109S missense unknown FOXL2 N109S lies within the fork-head 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, May 2020).
P116Q missense unknown FOXL2 P116Q lies within the fork-head 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, May 2020).
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).
R103C missense unknown FOXL2 R103C lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). The functional effect of R103C is conflicting, as it demonstrates activation of FOXL2 and SIRT1 promoters similar to wild-type protein in reporter assays (PMID: 18372316, PMID: 19010791), however, results in impaired SIRT1 and MnSOD promoter activation (PMID: 19515849, PMID: 19010791), and abnormal nuclear and cytoplasmic aggregation in cell culture (PMID: 18372316), and therefore, its effect on Foxl2 protein function is unknown.
R146P missense unknown FOXL2 R146P lies within the fork-head DNA binding region 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, May 2020).
R147L missense unknown FOXL2 R147L lies within the fork-head DNA binding region 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, May 2020).
S101R missense loss of function FOXL2 S101R lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). S101R confers a loss of function on the Foxl2 protein as demonstrated by impaired ability to transactivate target genes in reporter assays (PMID: 19515849, PMID: 19010791, PMID: 18372316), and nuclear aggregation of the Foxl2 protein in cell culture (PMID: 18372316).
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.
S217F missense unknown FOXL2 S217F does not lie within any known functional domains of the Foxl2 protein (UniProt.org). S217F results in abnormal nuclear and cytoplasmic aggregation in cell culture (PMID: 18372316), however, demonstrates variable levels of promoter activation (PMID: 19515849) as demonstrated by reduced SIRT1 (PMID: 19010791), increased Goat FOXL2 (PMID: 18372316), and similar activation of MnSOD promoter compared to wild-type protein in reporter assays (PMID: 19515849), and therefore, its effect on Foxl2 protein function is unknown.
S58L missense loss of function FOXL2 S58L lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). S58L confers a loss of function on the Foxl2 protein as demonstrated by impaired ability to transactivate target genes in reporter assays (PMID: 19515849, PMID: 19010791, PMID: 18372316), and cytoplasmic and nuclear aggregation of the Foxl2 protein in cell culture (PMID: 18372316).
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).
T76M missense unknown FOXL2 T76M lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). T76M has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Foxl2 protein function is unknown (PubMed, May 2020).
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).
W98G missense loss of function FOXL2 W98G lies within the fork-head DNA binding region of the Foxl2 protein (UniProt.org). W98G demonstrates MnSOD promoter activation similar to wild-type Foxl2 (PMID: 19010791), however, demonstrates impaired promoter activation (PMID: 19515849), and reduced SIRT1 (PMID: 19010791) and Goat FOXL2 promoter activation (PMID: 18372316) in reporter assays, and abnormal nuclear and cytoplasmic aggregation in cell culture (PMID: 18372316).
wild-type none no effect Wild-type FOXL2 indicates that no mutation has been detected within the FOXL2 gene.
Y215C missense unknown FOXL2 Y215C does not lie within any known functional domains of the Foxl2 protein (UniProt.org). Y215C results in abnormal nuclear aggregation of Foxl2 protein, but demonstrates transcriptional activity similar to wild-type protein in cell culture (PMID: 19515849), and therefore, its effect on Foxl2 protein function is unknown.