FOXL2
entrez
668
canonical
uniprot
P58012
canonical
ensembl
ENSG00000183770
resolver
ensp
ENSP00000497217
resolver
enst
ENST00000648323
resolver
genesymbol
FOXL2
resolver
hgnc
HGNC:1092
resolver
uniprot
Q4ZGJ3
resolver
uniprot
Q53ZD3
resolver
uniprot_entry
FOXL2_HUMAN
resolver
uniprot_entry
Q53ZD3_HUMAN
resolver
uniprot_sec
Q4ZGJ3
resolver
amino_acid_sequence
MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLHAAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLDL
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:11175783, ECO:0000269|PubMed:11468277, ECO:0000269|PubMed:12400065, ECO:0000269|PubMed:12529855, ECO:0000269|PubMed:12630957, ECO:0000269|PubMed:12938087, ECO:0000269|PubMed:15257268, ECO:0000269|PubMed:16454982, ECO:0000269|PubMed:17089161, ECO:0000269|PubMed:18372316, ECO:0000269|PubMed:18484667, ECO:0000269|PubMed:18642388, ECO:0000269|PubMed:22159675, ECO:0000269|Ref.2}. Note=The disease is caused by variants 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.; DISEASE: 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. {ECO:0000269|PubMed:12149404, ECO:0000269|PubMed:19429596}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000250, ECO:0000269|PubMed:16153597, ECO:0000269|PubMed:19010791, ECO:0000269|PubMed:19429596, ECO:0000269|PubMed:19744555}.
uniprot
proteins
mass_dalton
38772
uniprot
proteins
mutagenesis
MUTAGEN 25; /note="K->R: Results in reduced sumoylation. Loss of transcriptional repression activity."; /evidence="ECO:0000269|PubMed:19744555
uniprot
proteins
post_translational_modification
PTM: Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity. {ECO:0000269|PubMed:19744555}.
uniprot
proteins
pubmed
11175783
uniprot
proteins
pubmed
11468277
uniprot
proteins
pubmed
12149404
uniprot
proteins
pubmed
12161610
uniprot
proteins
pubmed
12400065
uniprot
proteins
pubmed
12529855
uniprot
proteins
pubmed
12630957
uniprot
proteins
pubmed
12938087
uniprot
proteins
pubmed
15257268
uniprot
proteins
pubmed
15300845
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16153597
uniprot
proteins
pubmed
16454982
uniprot
proteins
pubmed
17089161
uniprot
proteins
pubmed
18372316
uniprot
proteins
pubmed
18484667
uniprot
proteins
pubmed
18642388
uniprot
proteins
pubmed
19010791
uniprot
proteins
pubmed
19429596
uniprot
proteins
pubmed
19516027
uniprot
proteins
pubmed
19744555
uniprot
proteins
pubmed
19956657
uniprot
proteins
pubmed
22159675
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27610946
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:19744555}.
uniprot
proteins