FOXL2 (forkhead box L2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(51)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605597 1092 ENSG00000183770
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GERKGNYWTLDPACEDMFEKGNYRRRRRMKRPFRPPPAHFQPGKGLFGAGGAAGGCGVAG
AGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAAAAAAAAAAAGPGSPG
AAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLH
AAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSY
WDHDSKTGALHSRLDL
Sequence length 376
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    SUMOylation of transcription factors
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, ptosis, and epicanthus inversus syndrome rs1559921944, rs1057516167, rs672601357, rs1559922470, rs1315073489, rs1057516151, rs1060499717, rs1057516178, rs1559921973, rs1057516165, rs797044529, rs1559922472, rs1559922628, rs1057516150, rs1057516176
View all (73 more)		 N/A
Premature Ovarian Failure Premature ovarian failure 3, Genetic non-acquired premature ovarian failure rs1553752779, rs1553752894, rs201840174, rs672601359 N/A
Blepharophimosis, ptosis, and epicanthus inversus syndrome BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II, BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I rs387906322, rs863225452, rs28937884, rs121908358, rs797044528, rs797044532, rs863225453, rs104893741, rs387906920, rs387906321, rs104893737, rs104893738, rs863225450, rs863225451 N/A
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through Pubtator
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