Gene FOXL2 - ENSG00000183770 | NCBI Gene ID: 668

Details for: FOXL2

Gene ID: 668

Symbol: FOXL2

Ensembl ID: ENSG00000183770

Description: forkhead box L2

Associated with

Developmental biology
(R-HSA-1266738)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Sumo e3 ligases sumoylate target proteins
(R-HSA-3108232)
Sumoylation
(R-HSA-2990846)
Sumoylation of transcription factors
(R-HSA-3232118)
Transcriptional regulation of testis differentiation
(R-HSA-9690406)
Anatomical structure morphogenesis
(GO:0009653)
Apoptotic dna fragmentation
(GO:0006309)
Cell differentiation
(GO:0030154)
Chromatin
(GO:0000785)
Cysteine-type endopeptidase regulator activity involved in apoptotic process
(GO:0043028)
Dna-binding transcription activator activity, rna polymerase ii-specific
(GO:0001228)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Dna binding
(GO:0003677)
Embryonic eye morphogenesis
(GO:0048048)
Extraocular skeletal muscle development
(GO:0002074)
Female somatic sex determination
(GO:0019101)
Flemming body
(GO:0090543)
Granulosa cell differentiation
(GO:0060014)
Negative regulation of dna-templated transcription
(GO:0045892)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Nuclear estrogen receptor binding
(GO:0030331)
Nucleoplasm
(GO:0005654)
Nucleus
(GO:0005634)
Oocyte growth
(GO:0001555)
Ovarian follicle development
(GO:0001541)
Positive regulation of apoptotic process
(GO:0043065)
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
(GO:0043280)
Positive regulation of dna-templated transcription
(GO:0045893)
Positive regulation of follicle-stimulating hormone secretion
(GO:0046881)
Positive regulation of luteinizing hormone secretion
(GO:0033686)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Sequence-specific double-stranded dna binding
(GO:1990837)
Single fertilization
(GO:0007338)
Ubiquitin conjugating enzyme binding
(GO:0031624)
Uterus development
(GO:0060065)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: myofibroblast cell (CL0000186)
Fold Change: 3.9
Marker Score: 4810
Cell Name: erythrocyte (CL0000232)
Fold Change: 2.83
Marker Score: 1570
Cell Name: granulosa cell (CL0000501)
Fold Change: 2.03
Marker Score: 20458
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.27
Marker Score: 14255
Cell Name: keratocyte (CL0002363)
Fold Change: 1.25
Marker Score: 288
Cell Name: goblet cell (CL0000160)
Fold Change: 1.16
Marker Score: 7694
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.15
Marker Score: 728
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 1.04
Marker Score: 6792
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71837
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1
Marker Score: 2537
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48062
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30409
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5355
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2744
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.9
Marker Score: 689.5
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5294
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.82
Marker Score: 432
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1269
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 713
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.78
Marker Score: 403
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.71
Marker Score: 183
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.66
Marker Score: 275
Cell Name: neutrophil (CL0000775)
Fold Change: 0.65
Marker Score: 393
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.62
Marker Score: 495
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.57
Marker Score: 152
Cell Name: germ cell (CL0000586)
Fold Change: 0.56
Marker Score: 972
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.54
Marker Score: 353
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.49
Marker Score: 925
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.47
Marker Score: 965
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.45
Marker Score: 7031
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.45
Marker Score: 254
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.44
Marker Score: 429
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.4
Marker Score: 425
Cell Name: theca cell (CL0000503)
Fold Change: 0.39
Marker Score: 276
Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 0.38
Marker Score: 555
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.38
Marker Score: 378
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.35
Marker Score: 210
Cell Name: conventional dendritic cell (CL0000990)
Fold Change: 0.35
Marker Score: 240
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.33
Marker Score: 2008
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 0.33
Marker Score: 688
Cell Name: decidual cell (CL2000002)
Fold Change: 0.33
Marker Score: 1419
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 0.32
Marker Score: 412
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.3
Marker Score: 142
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.28
Marker Score: 169
Cell Name: leukocyte (CL0000738)
Fold Change: 0.28
Marker Score: 160
Cell Name: supporting cell (CL0000630)
Fold Change: 0.27
Marker Score: 507
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.27
Marker Score: 84
Cell Name: male germ cell (CL0000015)
Fold Change: 0.25
Marker Score: 71
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.25
Marker Score: 162
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.24
Marker Score: 351
Cell Name: mesothelial cell (CL0000077)
Fold Change: 0.23
Marker Score: 93
Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: 0.21
Marker Score: 112
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.2
Marker Score: 251
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.19
Marker Score: 503
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.19
Marker Score: 96
Cell Name: Unknown (CL0002371)
Fold Change: 0.18
Marker Score: 193
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.18
Marker Score: 95
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.17
Marker Score: 267
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.15
Marker Score: 882
Cell Name: pericyte (CL0000669)
Fold Change: 0.12
Marker Score: 72
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.11
Marker Score: 114
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 0.11
Marker Score: 111
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.11
Marker Score: 299
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.11
Marker Score: 48
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.11
Marker Score: 82
Cell Name: neuroendocrine cell (CL0000165)
Fold Change: 0.11
Marker Score: 41
Cell Name: stromal cell (CL0000499)
Fold Change: 0.1
Marker Score: 120
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.09
Marker Score: 33
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.09
Marker Score: 39
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.08
Marker Score: 56
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.08
Marker Score: 25
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 0.08
Marker Score: 185
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.07
Marker Score: 46
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.07
Marker Score: 172
Cell Name: fibroblast (CL0000057)
Fold Change: 0.07
Marker Score: 67
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.06
Marker Score: 134
Cell Name: secretory cell (CL0000151)
Fold Change: 0.06
Marker Score: 113
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.06
Marker Score: 16
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.06
Marker Score: 54
Cell Name: mature NK T cell (CL0000814)
Fold Change: 0.06
Marker Score: 27
Cell Name: mast cell (CL0000097)
Fold Change: 0.06
Marker Score: 33
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 0.05
Marker Score: 13
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.05
Marker Score: 17
Cell Name: natural killer cell (CL0000623)
Fold Change: 0.05
Marker Score: 68
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.05
Marker Score: 56
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.05
Marker Score: 13
Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 0.05
Marker Score: 100
Cell Name: epithelial cell of thymus (CL0002293)
Fold Change: 0.05
Marker Score: 16
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.05
Marker Score: 173
Cell Name: podocyte (CL0000653)
Fold Change: 0.05
Marker Score: 17
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 0.05
Marker Score: 80
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.04
Marker Score: 891
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 0.04
Marker Score: 13
Cell Name: mononuclear phagocyte (CL0000113)
Fold Change: 0.04
Marker Score: 44
Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 0.04
Marker Score: 29
Cell Name: neural cell (CL0002319)
Fold Change: 0.04
Marker Score: 20
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 0.04
Marker Score: 13
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 0.04
Marker Score: 10
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 0.04
Marker Score: 10
Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.04
Marker Score: 13

Hover over a box to see details here...

**Key characteristics:** - It is a secreted protein that is expressed in a variety of cell types. - It is a key regulator of cell growth and differentiation. - It is involved in the regulation of apoptosis, proliferation, and tissue development. - It interacts with a number of other proteins to regulate these processes. **Pathways and functions:** - FOXL2 is involved in the regulation of cell growth and differentiation. - It is a key regulator of the development of the female reproductive tract. - It is involved in the regulation of male fertility. - It is involved in the development of the immune system. **Clinical significance:** - Mutations in the FOXL2 gene have been linked to a number of human cancers. - Inhibition of FOXL2 has been shown to inhibit cancer cell growth and proliferation. - Overexpression of FOXL2 has been shown to promote cancer cell growth and metastasis. **Conclusion:** FOXL2 is a critical regulator of cell growth, proliferation, and apoptosis. Its mutations and overexpression have important implications for human health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Forkhead box protein L2

Genular Protein ID: 2664599101

Symbol: FOXL2_HUMAN

Name: Forkhead box protein L2

UniProtKB Accession Codes:

P58012 Q4ZGJ3

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. For the full schema, download it here.

Details for: FOXL2

Associated with

Cells (max top 100)

Other Information

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. PubMed ID: 11175783

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis. PubMed ID: 16153597

Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the steroidogenic acute regulatory gene. PubMed ID: 19744555

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

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. PubMed ID: 19429596

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

The human FOXL2 mutation database. PubMed ID: 15300845

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype -- phenotype correlation. PubMed ID: 11468277

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. PubMed ID: 12400065

FOXL2 mutation screening in a large panel of POF patients and XX males. PubMed ID: 12161610

Identification of novel mutations in FOXL2 associated with premature ovarian failure. PubMed ID: 12149404

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. PubMed ID: 12529855

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. PubMed ID: 12630957

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. PubMed ID: 12938087

Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). PubMed ID: 15257268

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. PubMed ID: 16454982

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

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. PubMed ID: 18372316

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. PubMed ID: 18484667

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. PubMed ID: 18642388

Mutation of FOXL2 in granulosa-cell tumors of the ovary. PubMed ID: 19516027

The specificity of the FOXL2 c.402C&gt;G Somatic mutation: a survey of solid tumors. PubMed ID: 19956657

Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues. PubMed ID: 27610946