Recombinant Human Forkhead Box Protein L2 (FOXL2) Protein (His&Myc)

Name: Recombinant Human Forkhead Box Protein L2 (FOXL2) Protein (His&Myc)
Brand: Beta LifeScience
SKU: BLC-00686P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Forkhead Box Protein L2 (FOXL2) Protein (His&Myc) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P58012
Target Symbol	FOXL2
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His&C-Myc
Target Protein Sequence	MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL
Expression Range	1-376aa
Protein Length	Full Length
Mol. Weight	43.8 kDa
Research Area	Others
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen. Is a regulator of CYP19 expression. Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element. Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.
Subcellular Location	Nucleus.
Database References	HGNC: 1092 OMIM: 110100 KEGG: hsa:668 STRING: 9606.ENSP00000333188 UniGene: Hs.289292
Associated Diseases	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES); Premature ovarian failure 3 (POF3)
Tissue Specificity	In addition to its expression in the developing eyelid, it is transcribed very early in somatic cells of the developing gonad (before sex determination) and its expression persists in the follicular cells of the adult ovary.

Gene Functions References

Thus, FOXL2C134W potentiates CYP19 expression in HGrC1 cells via enhanced recruitment of SMAD3 to a proximal FOX binding element. PMID: 29471425
In the present study, we analysed two Han Chinese families with BPES type I and identified two novel mutations (c.462_468del and c.988_989insG). Immunofluorescence and confocal microscopy revealed that the extended FOXL2, p.Ala330Glyfs*204, induced significant mislocalization and aggregation. PMID: 29378385
Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). PMID: 29505555
We describe a girl and her father with isolated BPES without an intragenic mutation in FOXL2. MLPA of a FOXL2 enhancer region identified a small microdeletion at 234 kb upstream of FOXL2. This deletion fully includes the PISRT1 gene, a noncoding gene which is part of a cis-regulatory element of FOXL2 PMID: 29481440
MiR-937 inhibits the proliferation and metastasis of gastric cancer cells by targeting FOXL2 via inactivation of PI3K/AKT signaling pathway. These results suggest that miR-937 may be a potential target for the treatment of gastric cancer. PMID: 29060929
This study demonstrated the existence of an AMH-FOXL2 relationship in hGCs. AMH is capable of increasing both gene and protein expression of FOXL2. Because FOXL2 induces AMH transcription, these ovarian factors could be finely regulated by a positive feedback loop mechanism to preserve the ovarian follicle reserve. PMID: 28660501
A novel FOXL2 indel mutation was identified in Chinese families with BPES. Our results expand the spectrum of known FOXL2 mutations and provide additional insight into the structure-function relationships of the FOXL2 protein. PMID: 28924383
The adult granulosa cell tumor (AGCT)-like components are likely to be tumor-like proliferations but not truly neoplastic AGCT. FOXL2 mutation testing may be useful in confirming an AGCT-like component. PMID: 27648785
This novel duplicate mutation (c.844_860dup17, p.His291Argfs*71) in FOXL2 was identified in a Chinese family with both types of BPES. These findings expand current knowledge of the mutation spectrum of the FOXL2 gene and confirmed the intrafamily phenotypic heterogeneity of BPES. PMID: 28849110
The study shows that half of granulosa theca cell tumors harbor the same FOXL2 mutation that characterizes adult granulosa cell tumors but there is no outcome evidence to guide whether mutation status should alter the classification of the tumor or the management of the patient. PMID: 28319575
The promoter of FOXL2 was successfully cloned and registered in Gen Bank, and a dual luciferase reporter (DLR) analysis demonstrated that the luciferase activity was significantly induced by the promoter of FOXL2. Subsequently, bioinformatics analysis indicated that FOXL2 may be regulated by STAT3. PMID: 28677787
This study demonstrated that the transactivation of FOXL2 driven by interactions between HMGA2 and pRb might exert critical effects on the metastases and EMT of chemoresistant gastric cancer. Blocking the HMGA2-FOXL2-ITGA2 pathway could serve as a new strategy for gastric cancer treatment. PMID: 28119367
A novel deletion mutation (C.634_641 del, CCCATGC) between the forkhead domain and the polyalanine domain was found, resulting in a frameshift mutation and a truncated protein. PMID: 29339661
FOXL2 had a sensitivity and specificity of 100% for all the cases of sex cord stromal tumors included in this study PMID: 28272677
Our results suggest that, in contrast to FOXL2 mutations in adult granulosa cell tumours (A-GCTs), DICER1 mutations in Sertoli-Leydig cell tumours (SLCTs) might be more useful for prognosis than for diagnosis. PMID: 26033501
Despite exhibiting an immunophenotype characteristic of a sex cord-stromal tumor, mutations in FOXL2 and DICER1, the 2 most common mutations hitherto reported in ovarian sex cord-stromal tumors, are not a feature of Uterine tumor resembling ovarian sex cord tumor (UTROSCT). PMID: 26598979
This report describes the preservation of heterozygous c.402C>G FOXL2 mutation in recurrent aGCTs. This finding adds further credence to the concept that the c.402C>G FOXL2 mutation is oncogenic and integral to this disease. PMID: 28594898
The novel mutations of the FOXL2 are associated with blepharophimosis, ptosis and epicanthus inversus syndrome. PMID: 28604951
this study identified a novel regulatory circuit for ovarian AMH production; specifically, through the coordinated interplay between FOXL2 and SF-1 that could control ovarian follicle development. PMID: 27414805
we report the identification of two novel and two recurrent heterozygous NOBOX variants in 7 out of 107 patients, with a prevalence of 6.5% (upper 95% confidence limit of 11.17%). Several variants conserve the ability to interact with FOXL2 in intracellular aggregates PMID: 27798098
This is the first study reporting lacrimal gland(LG) volumes in BPES, describing a significant number of patients with LG agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations. PMID: 27914838
In the case of aGCT, a well characterized mutation in the FOXL2 transcription factor (FOXL2 C134W) is found in almost all cases, which arguably defines the disease, although the molecular events that determine the stage, behavior and prognosis of aGCT remain to be determined. PMID: 27813081
We highlight the cooperation of WNT4, RSPO1 and FOXL2 within a regulatory network and the need for further research to better understand their role in defining and maintaining ovarian identity. PMID: 27604691
The de novo mutation rate in FOXL2 is exceptionally high compared with other dominant disorders manifesting with an ocular phenotype. PMID: 27283035
SUMOylation of FOXL2 and PML Bodies PMID: 22022399
Ten novel protein partners of FOXL2 PMID: 22544055
FOXL2 mobilizes estrogen signaling to maintain the identity of ovarian granulosa cells PMID: 25369636
The absence of FOXL2 and DICER1 gene mutation observed in 3 patients, along with strong FOXL2 immunoreactivity provides additional evidence to place microcystic stromal tumor within pure gonadal stromal rather than sex cord ovarian tumors. PMID: 27830327
genetic association study in two families with blepharophimosis-ptosis-epicanthus inversus syndrome type 1: Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in FOXL2 gene are identified in three women. PMID: 26100530
suggests the potential of pS33 FOXL2 to serve as a new biomarker for the diagnosis of adult-type GCT PMID: 25871347
Our combined analysis identifies potential candidate genes, whose alterations might contribute to adult-type Ovarian granulosa cell tumors formation/progression together with the recurrent FOXL2 somatic mutation. PMID: 25884336
Foxl2 deletion in either Cranial Neural Crest Cells (CNCCs) or Cranial Mesodermal Cells (CMCs) prevents eyelid closure and induces subtle skeletal developmental defects. PMID: 25416281
C134W mutation affects granulosa cell tumor development via differential posttranslational modifications of FOXL2 by GSK3B. PMID: 24390485
Two novel FOXL2 mutations (c.675_690delinsT, and p.Leu75Phe) were identified in Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. PMID: 26323275
Uterine tumors resembling ovarian sex cord tumors do not harbor FOXL2 mutation PMID: 25581731
FOXL2 p.C134W mutation-positive adult-type granulosa cell tumor of the ovary may not be common in the Japanese. PMID: 24689977
report the 402C-->G FOXL2 mutation status in five epithelial ovarian lesions in women aged 45-77 years showing stromal proliferations that were morphologically indistinguishable from adult granulosa cell tumour PMID: 24138090
FOXL2 mRNA is hyperexpressed in the endometrium in endometriosis. PMID: 24520083
both NOBOX and FOXL2 are expressed in human follicle granulosa cells and their interaction plays an inhibitory role in the transcriptional response of these promoters. PMID: 24620032
Mouse Foxl2 expression is downregulated by mir-133a. PMID: 25317675
FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells. PMID: 24817949
The authors describe a boy with blepharophimosis syndrome plus from a de novo heterozygous 3q22.3-q24 11.2 Mb microdeletion. PMID: 25032695
decreased apoptotic and antiproliferative activities caused by mutant forms of FOXL2 found in blepharophimosis-ptosis-epicanthus inversus syndrome patients may at least partially contribute to the pathophysiology of ovarian dysfunction. PMID: 24240106
In this review, we focus on the role of four specific FOX factors (FOXD1, FOXL2, FOXO1 and FOXP3) in gonadotropin hormone production PMID: 24099863
investigated the impact of FOXL2 point mutation testing in a large cohort of adult-type granulosa cell tumours of the ovary PMID: 24192202
The molecular interactions of FOXL2, GATA4, and SMAD3 and their roles in the regulation of CCND2 using co-immunoprecipitation, promoter transactivation, and cell viability assays in human granulosa cell tumor cells, were investigated. PMID: 24416423
a FOXL2 mutation (c.402C>G) may have a role in development of adult-type ovarian granulosa cell tumors in Japanese patients PMID: 24257635
The 402C>G mutation in FOXL2, found in adult ovarian granulosa cell tumors, appears to deregulate the anti-proliferative TGF-beta pathway. Mutant FOXL2's inability to elicit an apoptotic signal cascade may be important in pathogenesis. [Review Article] PMID: 24342437
FOXL2 is expressed in normal ovaries and ovarian sex cord stromal tumors, is also expressed in ovarian-type stroma characteristic of pancreatic mucinous cystic neoplasms, hepatobiliary cystadenomas, and mixed epithelial and stromal tumor of the kidney . PMID: 24746205
We investigated the mechanism by which Notch1 activation controls expression of FoxL2, which in turn activates smooth muscle actin gene expression in periocular mesenchyma to control eyelid levator smooth muscle formation. PMID: 23084143

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