Entity Details

Primary name FOXL2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP58012
EntryNameFOXL2_HUMAN
FullNameForkhead box protein L2
TaxID9606
Evidenceevidence at protein level
Length376
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesFOXL2

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001541 ovarian follicle development
GO:0002074 extraocular skeletal muscle development
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006309 apoptotic DNA fragmentation
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009653 anatomical structure morphogenesis
GO:0030154 cell differentiation
GO:0031624 ubiquitin conjugating enzyme binding
GO:0043028 cysteine-type endopeptidase regulator activity involved in apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0090543 Flemming body
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001766 Fork head domainDomainDomain
IPR018122 Fork head domain conserved site1SiteConserved site
IPR030456 Fork head domain conserved site 2SiteConserved site
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
110100 OMIMBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)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. 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.
608996 OMIMPremature ovarian failure 3 (POF3)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. The disease is caused by variants affecting the gene represented in this entry.