Property Summary

NCBI Gene PubMed Count 143
Grant Count 66
R01 Count 36
Funding $6,829,933.37
PubMed Score 610.66
PubTator Score 456.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
sonic hedgehog group medulloblastoma 1.300 0.012
ovarian cancer -1.500 0.000
pituitary cancer -2.000 0.008

Synonym

Accession P58012 Q4ZGJ3
Symbols BPES
PFRK
POF3
BPES1
PINTO

Gene

 GO Component (1)

Gene RIF (135)

PMID Text
26323275 Two novel FOXL2 mutations (c.675_690delinsT, and p.Leu75Phe) were identified in Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
26200099 Describe microcystic stromal tumor as a distinctive ovarian sex cord-stromal neoplasm characterized by FOXL2, SF-1, WT-1, Cyclin D1, and beta-catenin nuclear expression and CTNNB1 mutations.
26100530 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.
25884336 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.
25871347 suggests the potential of pS33 FOXL2 to serve as a new biomarker for the diagnosis of adult-type GCT
25581731 Uterine tumors resembling ovarian sex cord tumors do not harbor FOXL2 mutation
25416281 Foxl2 deletion in either Cranial Neural Crest Cells (CNCCs) or Cranial Mesodermal Cells (CMCs) prevents eyelid closure and induces subtle skeletal developmental defects.
25317675 Mouse Foxl2 expression is downregulated by mir-133a.
25032695 The authors describe a boy with blepharophimosis syndrome plus from a de novo heterozygous 3q22.3-q24 11.2 Mb microdeletion.
24817949 FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells.
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AA Sequence

MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRES      1 - 70
AEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEK     71 - 140
GNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPP    141 - 210
SPMPYASCQMAAAAAAAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGP    211 - 280
PAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQ    281 - 350
PELAMMHCSYWDHDSKTGALHSRLDL                                                351 - 376
//

Text Mined References (145)

PMID Year Title
26323275 2015 Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
26200099 2015 Microcystic Stromal Tumor: A Distinctive Ovarian Sex Cord-Stromal Neoplasm Characterized by FOXL2, SF-1, WT-1, Cyclin D1, and ?-catenin Nuclear Expression and CTNNB1 Mutations.
26100530 2016 Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
25884336 2015 Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel candidate driver genes.
25871347 2015 Identification and Validation of Differential Phosphorylation Sites of the Nuclear FOXL2 Protein as Potential Novel Biomarkers for Adult-Type Granulosa Cell Tumors.
25581731 2015 FOXL2 mutation is absent in uterine tumors resembling ovarian sex cord tumors.
25416281 2015 Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.
25317675 2015 microRNA133a targets Foxl2 and promotes differentiation of C2C12 into myogenic progenitor cells.
25032695 2014 Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
24817949 2014 FOXL2 suppresses proliferation, invasion and promotes apoptosis of cervical cancer cells.
More...