• Gene id: 668

Gene Summary

• Gene Symbol: FOXL2   Gene   UCSC   Ensembl
• Aliases: BPES, BPES1, PFRK, PINTO, POF3
• Gene name: forkhead box L2
• Alternate names: forkhead box protein L2, forkhead transcription factor FOXL2,
• Gene location: 3q22.3 (138947136: 138944223)     Exons: 1     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 609494

SNPs

rs202094637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs143740376

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

Protein Summary

• Protein general information: P58012  
  • Name: Forkhead box protein L2
  • Length: 376  
  • Mass: 38772
  • 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:

  MMASYPEPEDAAGALLAPETGRTVKEPEGPPPSPGKGGGGGGGTAPEKPDPAQKPPYSYVALIAMAIRESAEKRL
  TLSGIYQYIIAKFPFYEKNKKGWQNSIRHNLSLNECFIKVPREGGGERKGNYWTLDPACEDMFEKGNYRRRRRMK
  RPFRPPPAHFQPGKGLFGAGGAAGGCGVAGAGADGYGYLAPPKYLQSGFLNNSWPLPQPPSPMPYASCQMAAAAA
  AAAAAAAAAGPGSPGAAAVVKGLAGPAASYGPYTRVQSMALPPGVVNSYNGLGGPPAAPPPPPHPHPHPHAHHLH
  AAAAPPPAPPHHGAAAPPPGQLSPASPATAAPPAPAPTSAPGLQFACARQPELAMMHCSYWDHDSKTGALHSRLD
  L

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • STRING: ENSP00000333188
• Other Databases: GeneCards:  FOXL2  Malacards:  FOXL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0031624	ubiquitin conjugating enzyme binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0001555	oocyte growth	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007338	single fertilization	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0019101	female somatic sex determination	IEA	biological process
GO:0033686	positive regulation of luteinizing hormone secretion	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0046881	positive regulation of follicle-stimulating hormone secretion	IEA	biological process
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0048048	embryonic eye morphogenesis	IEA	biological process
GO:0060014	granulosa cell differentiation	IEA	biological process
GO:0060065	uterus development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0043028	cysteine-type endopeptidase regulator activity involved in apoptotic process	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0001541	ovarian follicle development	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0006309	apoptotic DNA fragmentation	IMP	biological process
GO:0002074	extraocular skeletal muscle development	IMP	biological process
GO:0001541	ovarian follicle development	ISS	biological process

Diseases

Associated diseases	References
Premature ovarian failure	KEGG:H00627
Blepharophimosis-ptosis-epicanthus inversus syndrome	KEGG:H00826
Premature ovarian failure	KEGG:H00627
Blepharophimosis-ptosis-epicanthus inversus syndrome	KEGG:H00826
Blepharophimosis, ptosis, and epicanthus inversus syndrome	PMID:11175783
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881