Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
668
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box L2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXL2
Synonyms (NCBI Gene) Gene synonyms aliases
BPES, BPES1, PFRK, PINTO, POF3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BPES, POF3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a forkhead transcription factor. The protein contains a fork-head DNA-binding domain and may play a role in ovarian development and function. Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepha
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT438580 hsa-miR-133b ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot 23810756
MIRT438580 hsa-miR-133b ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot 23810756
MIRT438580 hsa-miR-133b ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot 23810756
MIRT438580 hsa-miR-133b ChIP-seq, Luciferase reporter assay, qRT-PCR, Western blot 23810756
MIRT458211 hsa-miR-8084 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001541 Process Ovarian follicle development IMP 12161610
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605597 1092 ENSG00000183770
Protein
UniProt ID P58012
Protein name Forkhead box protein L2
Protein 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 rep
PDB 7VOU , 7VOV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 53 139 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: 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.
Sequence
MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYV
ALIAMAIRESAEKRLTLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGG
GERKGNYWTLDPACEDMFE
KGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAG
AGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG
AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLH
AAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSY
WDHDSKTGALHSRLDL
Sequence length 376
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of transcription factors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Blepharophimosis, ptosis, and epicanthus inversus syndrome BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder), Blepharophimosis, Ptosis, and Epicanthus Inversus Type II, Bpes, Type I, Autosomal Recessive, Blepharophimosis syndrome type 1, Blepharophimosis-ptosis-epicanthus inversus syndrome type 2, Blepharophimosis-ptosis-epicanthus inversus syndrome plus, Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 rs104893741, rs387906321, rs863225450, rs863225451, rs863225452, rs797044528, rs797044532, rs104893737, rs104893738, rs387906322, rs28937884, rs121908358, rs104893739, rs863225453, rs387906920
View all (81 more)
18372316, 17089161, 12938087, 11175783, 15257268, 11468277, 12529855, 18642388, 19429596, 18484667, 16454982, 12630957, 12400065, 16283882, 21889601
View all (2 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
17892325
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
17892325
Microphthalmos Microphthalmos rs794726862, rs1329285216
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Blepharophimosis blepharophimosis, ptosis, and epicanthus inversus syndrome GenCC
Premature Ovarian Failure premature ovarian failure 3 GenCC
Associations from Text Mining
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 21478824
Adenoma Associate 21478824
Amblyopia Associate 22312189
Amenorrhea Associate 36793102
Anisometropia Associate 37932670
Ascites Inhibit 17430735
Blepharophimosis Associate 27414805, 29471425, 30029625, 31366388, 37932670, 40102860
Blepharophimosis Ptosis and Epicanthus Inversus Associate 12529855, 15257268, 17277738, 17360647, 18642388, 19543368, 19969293, 20222838, 21321671, 21862621, 22312189, 23441113, 24817949, 25086333, 26323275
View all (13 more)
Blepharophimosis Ptosis and Epicanthus Inversus Inhibit 23516377
Blepharophimosis syndrome type 1 Associate 19969293