Endometriosis Knowledgebase

Search Result

Gene id

668

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (138947139: 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 blepharophimosis syndrome and premature ovarian failure 3. [provided by RefSeq, Jul 2016]

OMIM

605597

Protein Summary

Protein general information

P58012

Name: Forkhead box protein L2

Length: 376 Mass: 38,772

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 IPR033063 IPR018122 IPR030456 IPR011991
Prosite:	PS00657 PS00658 PS50039
Pfam:	PF00250
STRING:	ENSP00000333188;

Other Databases

GeneCards: FOXL2; Malacards: FOXL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IEA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0001541	ovarian follicle developm ent	IMP	biological_process
GO:0001555	oocyte growth	IEA	biological_process
GO:0002074	extraocular skeletal musc le development	IMP	biological_process
GO:0003677	DNA binding	TAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0006309	apoptotic DNA fragmentati on	IMP	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0019101	female somatic sex determ ination	IEA	biological_process
GO:0030154	cell differentiation	NAS	biological_process
GO:0030331	estrogen receptor binding	IEA	molecular_function
GO:0031624	ubiquitin conjugating enz yme binding	IPI	molecular_function
GO:0033686	positive regulation of lu teinizing hormone secreti on	IEA	biological_process
GO:0042703	menstruation	IMP	biological_process
GO:0042703	menstruation	IMP	biological_process
GO:0043028	cysteine-type endopeptida se regulator activity inv olved in apoptotic proces s	IMP	molecular_function
GO:0043065	positive regulation of ap optotic process	IGI	biological_process
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046881	positive regulation of fo llicle-stimulating hormon e secretion	IEA	biological_process
GO:0048048	embryonic eye morphogenes is	IEA	biological_process
GO:0060014	granulosa cell differenti ation	IEA	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IEA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0001541	ovarian follicle developm ent	IMP	biological_process
GO:0001555	oocyte growth	IEA	biological_process
GO:0002074	extraocular skeletal musc le development	IMP	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0006309	apoptotic DNA fragmentati on	IMP	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007338	single fertilization	IEA	biological_process
GO:0008585	female gonad development	IEA	biological_process
GO:0019101	female somatic sex determ ination	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030154	cell differentiation	NAS	biological_process
GO:0030331	estrogen receptor binding	IEA	molecular_function
GO:0031624	ubiquitin conjugating enz yme binding	IPI	molecular_function
GO:0033686	positive regulation of lu teinizing hormone secreti on	IEA	biological_process
GO:0042703	menstruation	IMP	biological_process
GO:0042703	menstruation	IMP	biological_process
GO:0043028	cysteine-type endopeptida se regulator activity inv olved in apoptotic proces s	IMP	molecular_function
GO:0043065	positive regulation of ap optotic process	IGI	biological_process
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IMP	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046881	positive regulation of fo llicle-stimulating hormon e secretion	IEA	biological_process
GO:0048048	embryonic eye morphogenes is	IEA	biological_process
GO:0060014	granulosa cell differenti ation	IEA	biological_process
GO:0060065	uterus development	IEA	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0001541	ovarian follicle developm ent	IMP	biological_process
GO:0002074	extraocular skeletal musc le development	IMP	biological_process
GO:0003677	DNA binding	TAS	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0006309	apoptotic DNA fragmentati on	IMP	biological_process
GO:0030154	cell differentiation	NAS	biological_process
GO:0031624	ubiquitin conjugating enz yme binding	IPI	molecular_function
GO:0042703	menstruation	IMP	biological_process
GO:0042703	menstruation	IMP	biological_process
GO:0043028	cysteine-type endopeptida se regulator activity inv olved in apoptotic proces s	IMP	molecular_function
GO:0043065	positive regulation of ap optotic process	IGI	biological_process
GO:0043065	positive regulation of ap optotic process	IMP	biological_process
GO:0043280	positive regulation of cy steine-type endopeptidase activity involved in apo ptotic process	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process

Diseases

Associated diseases	References
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)	PMID: 16762234, KEGG: H00826
Endometriosis	PMID: 24520083
Ovarian dysfunction	PMID: 24240106
Premature ovarian failure ( POF)	PMID: 12149404, KEGG: H00627, PMID: 18028747
Primary amenorrhea	PMID: 15459170
Primary ovarian insufficiency (POI)	PMID: 25988799
Endometriosis	INFBASE24520083

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
24520083	Endometrio sis			121 (52 healthy women, 31 wome n with endometr iosis by hyster oscopy, 38 wome n with endometr iosis with lapr oscopy)			Show abstract