FOXL2 | ENSG00000183770 | NCBI 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)

Other Information

Proteins

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

The gene details are incomplete or unavailable at the moment.

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.

Details for: FOXL2

Associated with

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