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P58012

- FOXL2_HUMAN

UniProt

P58012 - FOXL2_HUMAN

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Protein

Forkhead box protein L2

Gene

FOXL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.By similarity4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi54 – 14895Fork-headPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. cysteine-type endopeptidase regulator activity involved in apoptotic process Source: UniProtKB
  2. DNA binding Source: UniProtKB
  3. sequence-specific DNA binding Source: InterPro
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  5. ubiquitin conjugating enzyme binding Source: UniProtKB

GO - Biological processi

  1. apoptotic DNA fragmentation Source: UniProtKB
  2. cell differentiation Source: UniProtKB
  3. embryonic eye morphogenesis Source: Ensembl
  4. extraocular skeletal muscle development Source: UniProtKB
  5. female somatic sex determination Source: Ensembl
  6. granulosa cell differentiation Source: Ensembl
  7. menstruation Source: UniProtKB
  8. negative regulation of transcription, DNA-templated Source: UniProtKB
  9. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  10. ovarian follicle development Source: UniProtKB
  11. positive regulation of apoptotic process Source: UniProtKB
  12. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  13. positive regulation of transcription, DNA-templated Source: UniProtKB
  14. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  15. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein L2
Gene namesi
Name:FOXL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:1092. FOXL2.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.12 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. There is a mutational hotspot in the region coding for the poly-Ala domain, since 30% of all mutations in the ORF lead to poly-Ala expansions, resulting mainly in BPES type II.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_021196
Natural varianti63 – 631I → T in BPES. 1 Publication
VAR_062545
Natural varianti65 – 651M → V in BPES. 1 Publication
VAR_046490
Natural varianti66 – 661A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_021197
Natural varianti69 – 691E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 1 Publication
VAR_021198
Natural varianti80 – 801I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046491
Natural varianti84 – 841I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046492
Natural varianti84 – 841I → S in BPES; type I. 1 Publication
Corresponds to variant rs28937884 [ dbSNP | Ensembl ].
VAR_016883
Natural varianti85 – 851Missing in BPES; sporadic. 1 Publication
VAR_016884
Natural varianti90 – 901F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046493
Natural varianti98 – 981W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046494
Natural varianti98 – 981W → R in BPES. 1 Publication
VAR_062546
Natural varianti101 – 1011S → R in BPES; nuclear aggregation; impaired transactivation activity. 1 Publication
VAR_046495
Natural varianti102 – 1021I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046496
Natural varianti103 – 1031R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 1 Publication
VAR_046497
Natural varianti104 – 1041H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 1 Publication
VAR_021199
Natural varianti105 – 1051N → S in BPES; type II.
VAR_021200
Natural varianti106 – 1061L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_016885
Natural varianti106 – 1061L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046498
Natural varianti108 – 1081L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication
VAR_062547
Natural varianti109 – 1091N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 1 Publication
VAR_016886
Natural varianti193 – 1931K → R in BPES; type II.
VAR_021202
Natural varianti215 – 2151Y → C in BPES. 2 Publications
VAR_021203
Natural varianti217 – 2171S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication
VAR_062549
Natural varianti217 – 2171S → F in BPES; diffuse nuclear localization; increased transactivation activity. 2 Publications
VAR_016887
Natural varianti234 – 2341A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication
VAR_037303
Natural varianti234 – 2341A → AAAAAAAAAAA in BPES; type II. 2 Publications
VAR_010782
Natural varianti234 – 2341A → AAAAAAAAAAAA in BPES. 1 Publication
VAR_025306
Premature ovarian failure 3 (POF3) [MIM:608996]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti187 – 1871G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 Publications
VAR_015181
Natural varianti258 – 2581Y → N in POF3. 1 Publication
Corresponds to variant rs28937885 [ dbSNP | Ensembl ].
VAR_021204

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi25 – 251K → R: Results in reduced sumoylation. Loss of transcriptional repression activity. 1 Publication

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

MIMi110100. phenotype.
608996. phenotype.
Orphaneti261559. Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion.
261572. Blepharophimosis - epicanthus inversus - ptosis due to a point mutation.
619. Primary ovarian failure.
PharmGKBiPA28235.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 376376Forkhead box protein L2PRO_0000091861Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki25 – 25Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

Post-translational modificationi

Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiP58012.
PaxDbiP58012.
PRIDEiP58012.

PTM databases

PhosphoSiteiP58012.

Expressioni

Tissue specificityi

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.

Inductioni

In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and heat-shock conditions. Down-regulated by SIRT1.1 Publication

Gene expression databases

BgeeiP58012.
CleanExiHS_FOXL2.
ExpressionAtlasiP58012. baseline and differential.
GenevestigatoriP58012.

Interactioni

Subunit structurei

Interacts with ESR1 (By similarity). Interacts with SMAD3 (By similarity). Interacts with DDX20. Interacts with UBE2I/UBC9.By similarity2 Publications

Protein-protein interaction databases

BioGridi107136. 5 interactions.
IntActiP58012. 2 interactions.
STRINGi9606.ENSP00000333188.

Structurei

3D structure databases

ProteinModelPortaliP58012.
SMRiP58012. Positions 54-143.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi35 – 439Poly-Gly
Compositional biasi221 – 23414Poly-AlaAdd
BLAST
Compositional biasi284 – 2929Poly-Pro
Compositional biasi301 – 3044Poly-Ala

Sequence similaritiesi

Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG5025.
HOVERGENiHBG051651.
InParanoidiP58012.
KOiK09405.
OMAiELSMMHC.
OrthoDBiEOG7C8GHD.
PhylomeDBiP58012.
TreeFamiTF316127.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00250. Fork_head. 1 hit.
[Graphical view]
PRINTSiPR00053. FORKHEAD.
SMARTiSM00339. FH. 1 hit.
[Graphical view]
PROSITEiPS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P58012-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMASYPEPED AAGALLAPET GRTVKEPEGP PPSPGKGGGG GGGTAPEKPD
60 70 80 90 100
PAQKPPYSYV ALIAMAIRES AEKRLTLSGI YQYIIAKFPF YEKNKKGWQN
110 120 130 140 150
SIRHNLSLNE CFIKVPREGG GERKGNYWTL DPACEDMFEK GNYRRRRRMK
160 170 180 190 200
RPFRPPPAHF QPGKGLFGAG GAAGGCGVAG AGADGYGYLA PPKYLQSGFL
210 220 230 240 250
NNSWPLPQPP SPMPYASCQM AAAAAAAAAA AAAAGPGSPG AAAVVKGLAG
260 270 280 290 300
PAASYGPYTR VQSMALPPGV VNSYNGLGGP PAAPPPPPHP HPHPHAHHLH
310 320 330 340 350
AAAAPPPAPP HHGAAAPPPG QLSPASPATA APPAPAPTSA PGLQFACARQ
360 370
PELAMMHCSY WDHDSKTGAL HSRLDL
Length:376
Mass (Da):38,772
Last modified:April 27, 2001 - v1
Checksum:iB4952F2A0380E533
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti58 – 581S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_021196
Natural varianti63 – 631I → T in BPES. 1 Publication
VAR_062545
Natural varianti65 – 651M → V in BPES. 1 Publication
VAR_046490
Natural varianti66 – 661A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_021197
Natural varianti69 – 691E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 1 Publication
VAR_021198
Natural varianti80 – 801I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046491
Natural varianti84 – 841I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046492
Natural varianti84 – 841I → S in BPES; type I. 1 Publication
Corresponds to variant rs28937884 [ dbSNP | Ensembl ].
VAR_016883
Natural varianti85 – 851Missing in BPES; sporadic. 1 Publication
VAR_016884
Natural varianti90 – 901F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046493
Natural varianti98 – 981W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046494
Natural varianti98 – 981W → R in BPES. 1 Publication
VAR_062546
Natural varianti101 – 1011S → R in BPES; nuclear aggregation; impaired transactivation activity. 1 Publication
VAR_046495
Natural varianti102 – 1021I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046496
Natural varianti103 – 1031R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 1 Publication
VAR_046497
Natural varianti104 – 1041H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 1 Publication
VAR_021199
Natural varianti105 – 1051N → S in BPES; type II.
VAR_021200
Natural varianti106 – 1061L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_016885
Natural varianti106 – 1061L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 1 Publication
VAR_046498
Natural varianti108 – 1081L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication
VAR_062547
Natural varianti109 – 1091N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 1 Publication
VAR_016886
Natural varianti134 – 1341C → W in granulosa-cell tumors of the ovary; not commonly found in other tumor types. 2 Publications
VAR_062548
Natural varianti179 – 1791A → G.2 Publications
Corresponds to variant rs7432551 [ dbSNP | Ensembl ].
VAR_021201
Natural varianti187 – 1871G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 Publications
VAR_015181
Natural varianti193 – 1931K → R in BPES; type II.
VAR_021202
Natural varianti215 – 2151Y → C in BPES. 2 Publications
VAR_021203
Natural varianti217 – 2171S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication
VAR_062549
Natural varianti217 – 2171S → F in BPES; diffuse nuclear localization; increased transactivation activity. 2 Publications
VAR_016887
Natural varianti234 – 2341A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication
VAR_037303
Natural varianti234 – 2341A → AAAAAAAAAAA in BPES; type II. 2 Publications
VAR_010782
Natural varianti234 – 2341A → AAAAAAAAAAAA in BPES. 1 Publication
VAR_025306
Natural varianti258 – 2581Y → N in POF3. 1 Publication
Corresponds to variant rs28937885 [ dbSNP | Ensembl ].
VAR_021204
Natural varianti285 – 2851P → S.1 Publication
VAR_015182

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF301906 mRNA. Translation: AAK01352.1.
DQ016609 Genomic DNA. Translation: AAY21823.1.
BC062549 mRNA. Translation: AAH62549.1.
CCDSiCCDS3105.1.
RefSeqiNP_075555.1. NM_023067.3.
UniGeneiHs.289292.

Genome annotation databases

EnsembliENST00000330315; ENSP00000333188; ENSG00000183770.
GeneIDi668.
KEGGihsa:668.
UCSCiuc003esw.3. human.

Polymorphism databases

DMDMi13626838.

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

Cross-referencesi

Web resourcesi

Forkhead box L2 (FOXL2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF301906 mRNA. Translation: AAK01352.1 .
DQ016609 Genomic DNA. Translation: AAY21823.1 .
BC062549 mRNA. Translation: AAH62549.1 .
CCDSi CCDS3105.1.
RefSeqi NP_075555.1. NM_023067.3.
UniGenei Hs.289292.

3D structure databases

ProteinModelPortali P58012.
SMRi P58012. Positions 54-143.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107136. 5 interactions.
IntActi P58012. 2 interactions.
STRINGi 9606.ENSP00000333188.

PTM databases

PhosphoSitei P58012.

Polymorphism databases

DMDMi 13626838.

Proteomic databases

MaxQBi P58012.
PaxDbi P58012.
PRIDEi P58012.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000330315 ; ENSP00000333188 ; ENSG00000183770 .
GeneIDi 668.
KEGGi hsa:668.
UCSCi uc003esw.3. human.

Organism-specific databases

CTDi 668.
GeneCardsi GC03M138663.
GeneReviewsi FOXL2.
HGNCi HGNC:1092. FOXL2.
MIMi 110100. phenotype.
605597. gene.
608996. phenotype.
neXtProti NX_P58012.
Orphaneti 261559. Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion.
261572. Blepharophimosis - epicanthus inversus - ptosis due to a point mutation.
619. Primary ovarian failure.
PharmGKBi PA28235.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5025.
HOVERGENi HBG051651.
InParanoidi P58012.
KOi K09405.
OMAi ELSMMHC.
OrthoDBi EOG7C8GHD.
PhylomeDBi P58012.
TreeFami TF316127.

Miscellaneous databases

GeneWikii Forkhead_box_L2.
GenomeRNAii 668.
NextBioi 2732.
PROi P58012.
SOURCEi Search...

Gene expression databases

Bgeei P58012.
CleanExi HS_FOXL2.
ExpressionAtlasi P58012. baseline and differential.
Genevestigatori P58012.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR001766. TF_fork_head.
IPR018122. TF_fork_head_CS.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00250. Fork_head. 1 hit.
[Graphical view ]
PRINTSi PR00053. FORKHEAD.
SMARTi SM00339. FH. 1 hit.
[Graphical view ]
PROSITEi PS00657. FORK_HEAD_1. 1 hit.
PS00658. FORK_HEAD_2. 1 hit.
PS50039. FORK_HEAD_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
  2. "Study of mutations of FOXL2 gene in a Chinese TongHai family with blepharophimosis-ptosis-epicanthus inversus syndrome."
    Xu Y.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  4. "Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis."
    Lee K., Pisarska M.D., Ko J.J., Kang Y., Yoon S., Ryou S.M., Cha K.Y., Bae J.
    Biochem. Biophys. Res. Commun. 336:876-881(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN APOPTOSIS, INTERACTION WITH DDX20.
  5. "Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the steroidogenic acute regulatory gene."
    Kuo F.T., Bentsi-Barnes I.K., Barlow G.M., Bae J., Pisarska M.D.
    Cell. Signal. 21:1935-1944(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS TRANSCRIPTIONAL REPRESSOR OF STAR, INTERACTION WITH UBE2I, SUMOYLATION AT LYS-25, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-25.
  6. "Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations."
    Benayoun B.A., Batista F., Auer J., Dipietromaria A., L'Hote D., De Baere E., Veitia R.A.
    Hum. Mol. Genet. 18:632-644(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF SIRT1, INDUCTION.
  7. "Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2."
    Laissue P., Lakhal B., Benayoun B.A., Dipietromaria A., Braham R., Elghezal H., Philibert P., Saad A., Sultan C., Fellous M., Veitia R.A.
    J. Med. Genet. 46:455-457(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS TRANSCRIPTIONAL ACTIVATOR OF OSR2, VARIANT POF3 ASP-187, CHARACTERIZATION OF VARIANT POF3 ASP-187.
  8. Cited for: DATABASE OF FOXL2 VARIANTS.
  9. Cited for: VARIANTS BPES ILE-85 DEL AND PHE-217.
  10. Cited for: VARIANT BPES ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS.
  11. "FOXL2 mutation screening in a large panel of POF patients and XX males."
    De Baere E., Lemercier B., Christin-Maitre S., Durval D., Messiaen L., Fellous M., Veitia R.
    J. Med. Genet. 39:E43-E43(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASP-187 AND SER-285.
  12. "Identification of novel mutations in FOXL2 associated with premature ovarian failure."
    Harris S.E., Chand A.L., Winship I.M., Gersak K., Aittomaeki K., Shelling A.N.
    Mol. Hum. Reprod. 8:729-733(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS POF3 221-ALA--ALA-230 DEL AND ASN-258, VARIANT GLY-179.
  13. Cited for: VARIANTS BPES PHE-106; LYS-109 AND PHE-217.
  14. "Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle."
    Dollfus H., Stoetzel C., Riehm S., Lahlou Boukoffa W., Bediard Boulaneb F., Quillet R., Abu-Eid M., Speeg-Schatz C., Francfort J.J., Flament J., Veillon F., Perrin-Schmitt F.
    Clin. Genet. 63:117-120(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPES SER-84.
  15. "Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients."
    Udar N., Yellore V., Chalukya M., Yelchits S., Silva-Garcia R., Small K.
    Hum. Mutat. 22:222-228(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPES ARG-104.
  16. "Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C)."
    Kumar A., Babu M., Raghunath A., Venkatesh C.P.
    Mol. Vis. 10:445-449(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPES CYS-215.
  17. "Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome."
    Or S.F., Tong M.F., Lo F.M., Lam T.S.
    Chin. Med. J. 119:49-52(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPES THR-63.
  18. "A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction."
    Nallathambi J., Moumne L., De Baere E., Beysen D., Usha K., Sundaresan P., Veitia R.A.
    Hum. Genet. 121:107-112(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BPES ALA-ALA-ALA-ALA-ALA-234 INS, CHARACTERIZATION OF VARIANT BPES ALA-ALA-ALA-ALA-ALA-234 INS.
  19. "Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation."
    Beysen D., Moumne L., Veitia R., Peters H., Leroy B.P., De Paepe A., De Baere E.
    Hum. Mol. Genet. 17:2030-2038(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS BPES LEU-58; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103; ARG-104; PHE-106; PRO-106; LYS-109 AND PHE-217.
  20. "Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients."
    Nallathambi J., Laissue P., Batista F., Benayoun B.A., Lesaffre C., Moumne L., Pandaranayaka P.E., Usha K., Krishnaswamy S., Sundaresan P., Veitia R.A.
    Hum. Mutat. 29:E123-E131(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BPES ARG-98; PRO-108; CYS-215; CYS-217 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-234 INS, VARIANT GLY-179, CHARACTERIZATION OF VARIANTS BPES PRO-108 AND CYS-217.
  21. Cited for: VARIANTS BPES LEU-58; VAL-65; VAL-66; LYS-69; THR-80; ASN-84; SER-90; GLY-98; ARG-101; THR-102; CYS-103 AND PRO-106.
  22. Cited for: VARIANT TRP-134.
  23. Cited for: VARIANT TRP-134.

Entry informationi

Entry nameiFOXL2_HUMAN
AccessioniPrimary (citable) accession number: P58012
Secondary accession number(s): Q4ZGJ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: October 29, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3