Details for: FOXL2

Gene ID: 668

Symbol: FOXL2

Ensembl ID: ENSG00000183770

Description: forkhead box L2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.7060
    Cell Significance Index: 34.6600
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.4723
    Cell Significance Index: 8.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.4036
    Cell Significance Index: 192.7600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.2090
    Cell Significance Index: 31.7900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.6871
    Cell Significance Index: 10.9000
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.5564
    Cell Significance Index: 2.5700
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4729
    Cell Significance Index: 11.4600
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.2843
    Cell Significance Index: 3.3600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0111
    Cell Significance Index: 1.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0051
    Cell Significance Index: -3.8700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0052
    Cell Significance Index: -3.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0052
    Cell Significance Index: -3.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0069
    Cell Significance Index: -3.8900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0071
    Cell Significance Index: -3.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0087
    Cell Significance Index: -3.9700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0091
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0093
    Cell Significance Index: -1.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0099
    Cell Significance Index: -3.5400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0103
    Cell Significance Index: -0.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0118
    Cell Significance Index: -0.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0169
    Cell Significance Index: -0.8800
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0188
    Cell Significance Index: -0.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0193
    Cell Significance Index: -3.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0197
    Cell Significance Index: -3.9000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0217
    Cell Significance Index: -0.5900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0283
    Cell Significance Index: -3.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0298
    Cell Significance Index: -3.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0299
    Cell Significance Index: -3.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0321
    Cell Significance Index: -3.7800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0330
    Cell Significance Index: -1.4400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0336
    Cell Significance Index: -3.4300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0358
    Cell Significance Index: -0.7500
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0371
    Cell Significance Index: -0.4100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0372
    Cell Significance Index: -3.8700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0453
    Cell Significance Index: -2.9200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0470
    Cell Significance Index: -0.6500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0507
    Cell Significance Index: -3.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0552
    Cell Significance Index: -3.3900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0563
    Cell Significance Index: -1.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0567
    Cell Significance Index: -2.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0581
    Cell Significance Index: -2.7300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0587
    Cell Significance Index: -3.9500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0621
    Cell Significance Index: -1.0700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0640
    Cell Significance Index: -1.2500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0656
    Cell Significance Index: -0.8900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0682
    Cell Significance Index: -0.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0709
    Cell Significance Index: -3.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0719
    Cell Significance Index: -1.6600
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.0765
    Cell Significance Index: -1.0200
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0779
    Cell Significance Index: -1.0600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0786
    Cell Significance Index: -1.0600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0841
    Cell Significance Index: -0.8700
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0851
    Cell Significance Index: -1.2100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0863
    Cell Significance Index: -1.1500
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0881
    Cell Significance Index: -1.0200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0895
    Cell Significance Index: -2.2800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0938
    Cell Significance Index: -1.0200
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0944
    Cell Significance Index: -1.0300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0949
    Cell Significance Index: -3.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0950
    Cell Significance Index: -3.3000
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.0953
    Cell Significance Index: -1.2000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0978
    Cell Significance Index: -1.4000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1021
    Cell Significance Index: -1.5500
  • Cell Name: gamma-delta T cell (CL0000798)
    Fold Change: -0.1022
    Cell Significance Index: -1.0200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1032
    Cell Significance Index: -2.7600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1055
    Cell Significance Index: -3.0400
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1074
    Cell Significance Index: -1.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1110
    Cell Significance Index: -3.2700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1142
    Cell Significance Index: -3.7400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1144
    Cell Significance Index: -3.2800
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.1169
    Cell Significance Index: -1.3400
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.1170
    Cell Significance Index: -1.2100
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: -0.1173
    Cell Significance Index: -1.2400
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.1206
    Cell Significance Index: -1.1900
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1206
    Cell Significance Index: -1.1700
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1216
    Cell Significance Index: -1.9600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1224
    Cell Significance Index: -3.9000
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1231
    Cell Significance Index: -1.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1232
    Cell Significance Index: -3.3000
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.1234
    Cell Significance Index: -1.2800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1246
    Cell Significance Index: -2.1300
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1258
    Cell Significance Index: -0.9700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1273
    Cell Significance Index: -1.9700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1291
    Cell Significance Index: -1.8100
  • Cell Name: memory T cell (CL0000813)
    Fold Change: -0.1291
    Cell Significance Index: -1.0700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1295
    Cell Significance Index: -2.5600
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.1351
    Cell Significance Index: -0.9700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1356
    Cell Significance Index: -2.7600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1357
    Cell Significance Index: -1.1400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1380
    Cell Significance Index: -2.2400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1384
    Cell Significance Index: -3.9500
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.1390
    Cell Significance Index: -1.4200
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1391
    Cell Significance Index: -1.9100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1393
    Cell Significance Index: -3.4800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1401
    Cell Significance Index: -3.3600
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1410
    Cell Significance Index: -1.3500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.1414
    Cell Significance Index: -1.5800
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.1415
    Cell Significance Index: -1.3100
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1437
    Cell Significance Index: -1.5000
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.1446
    Cell Significance Index: -0.9000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** FOXL2 is a member of the forkhead box (FOX) family of transcription factors, which are characterized by their ability to bind to specific DNA sequences and regulate gene expression. FOXL2 is a ubiquitous gene, expressed in a wide range of cell types, including those involved in development, differentiation, and maintenance of tissue homeostasis. It is a transcriptional activator, meaning that it promotes the expression of target genes, and is involved in the regulation of various cellular processes, including apoptosis, cell differentiation, and protein metabolism. **Pathways and Functions** FOXL2 is involved in several signaling pathways, including: 1. **Apoptotic DNA fragmentation**: FOXL2 regulates the expression of genes involved in apoptosis, including those involved in DNA fragmentation and cell death. 2. **Cell differentiation**: FOXL2 is involved in the regulation of cell differentiation, particularly in the development of ovarian follicles and testis differentiation. 3. **Chromatin regulation**: FOXL2 interacts with chromatin-modifying enzymes to regulate gene expression and maintain chromatin structure. 4. **RNA polymerase II-specific transcription**: FOXL2 regulates the expression of genes involved in transcription, including those involved in RNA polymerase II-mediated transcription. FOXL2 functions as a transcriptional activator, binding to specific DNA sequences and recruiting coactivators to regulate gene expression. It also interacts with other transcription factors, including estrogen receptor and androgen receptor, to regulate gene expression. In addition, FOXL2 regulates protein metabolism, including the expression of enzymes involved in protein degradation and synthesis. **Clinical Significance** Dysregulation of FOXL2 has been implicated in several diseases, including: 1. **Ovarian cancer**: FOXL2 mutations have been identified in ovarian cancer, suggesting that it plays a role in tumorigenesis. 2. **Premature ovarian failure**: FOXL2 mutations have been associated with premature ovarian failure, a condition characterized by early menopause. 3. **Infertility**: FOXL2 mutations have been implicated in infertility, particularly in women with premature ovarian failure. 4. **Testis differentiation**: FOXL2 is involved in the regulation of testis differentiation, and dysregulation of FOXL2 has been associated with testicular dysgenesis. Overall, FOXL2 is a critical regulator of cellular processes, including development, differentiation, and survival. Its dysregulation has significant implications for human health, particularly in the context of ovarian cancer, premature ovarian failure, and infertility.

Genular Protein ID: 2664599101

Symbol: FOXL2_HUMAN

Name: Forkhead box protein L2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11175783

Title: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

PubMed ID: 11175783

DOI: 10.1038/84781

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16153597

Title: Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis.

PubMed ID: 16153597

DOI: 10.1016/j.bbrc.2005.08.184

PubMed ID: 19744555

Title: Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the steroidogenic acute regulatory gene.

PubMed ID: 19744555

DOI: 10.1016/j.cellsig.2009.09.001

PubMed ID: 19010791

Title: Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations.

PubMed ID: 19010791

DOI: 10.1093/hmg/ddn389

PubMed ID: 19429596

Title: Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

PubMed ID: 19429596

DOI: 10.1136/jmg.2008.065086

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 15300845

Title: The human FOXL2 mutation database.

PubMed ID: 15300845

DOI: 10.1002/humu.20079

PubMed ID: 11468277

Title: Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype -- phenotype correlation.

PubMed ID: 11468277

DOI: 10.1093/hmg/10.15.1591

PubMed ID: 12400065

Title: Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.

PubMed ID: 12400065

DOI: 10.1002/ajmg.10741

PubMed ID: 12161610

Title: FOXL2 mutation screening in a large panel of POF patients and XX males.

PubMed ID: 12161610

DOI: 10.1136/jmg.39.8.e43

PubMed ID: 12149404

Title: Identification of novel mutations in FOXL2 associated with premature ovarian failure.

PubMed ID: 12149404

DOI: 10.1093/molehr/8.8.729

PubMed ID: 12529855

Title: FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

PubMed ID: 12529855

DOI: 10.1086/346118

PubMed ID: 12630957

Title: Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.

PubMed ID: 12630957

DOI: 10.1034/j.1399-0004.2003.00011.x

PubMed ID: 12938087

Title: Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

PubMed ID: 12938087

DOI: 10.1002/humu.10251

PubMed ID: 15257268

Title: Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).

PubMed ID: 15257268

PubMed ID: 16454982

Title: Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

PubMed ID: 16454982

PubMed ID: 17089161

Title: A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

PubMed ID: 17089161

DOI: 10.1007/s00439-006-0276-0

PubMed ID: 18372316

Title: Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

PubMed ID: 18372316

DOI: 10.1093/hmg/ddn100

PubMed ID: 18484667

Title: Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

PubMed ID: 18484667

DOI: 10.1002/humu.20809

PubMed ID: 18642388

Title: Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome.

PubMed ID: 18642388

DOI: 10.1002/humu.20819

PubMed ID: 19516027

Title: Mutation of FOXL2 in granulosa-cell tumors of the ovary.

PubMed ID: 19516027

DOI: 10.1056/nejmoa0902542

PubMed ID: 19956657

Title: The specificity of the FOXL2 c.402C>G Somatic mutation: a survey of solid tumors.

PubMed ID: 19956657

DOI: 10.1371/journal.pone.0007988

PubMed ID: 27610946

Title: Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues.

PubMed ID: 27610946

DOI: 10.1002/humu.23116

Sequence Information:

  • Length: 376
  • Mass: 38772
  • Checksum: B4952F2A0380E533
  • Sequence:
  • MMASYPEPED AAGALLAPET GRTVKEPEGP PPSPGKGGGG GGGTAPEKPD PAQKPPYSYV 
    ALIAMAIRES AEKRLTLSGI YQYIIAKFPF YEKNKKGWQN SIRHNLSLNE CFIKVPREGG 
    GERKGNYWTL DPACEDMFEK GNYRRRRRMK RPFRPPPAHF QPGKGLFGAG GAAGGCGVAG 
    AGADGYGYLA PPKYLQSGFL NNSWPLPQPP SPMPYASCQM AAAAAAAAAA AAAAGPGSPG 
    AAAVVKGLAG PAASYGPYTR VQSMALPPGV VNSYNGLGGP PAAPPPPPHP HPHPHAHHLH 
    AAAAPPPAPP HHGAAAPPPG QLSPASPATA APPAPAPTSA PGLQFACARQ PELAMMHCSY 
    WDHDSKTGAL HSRLDL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.