HUMAN:FOXL2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	FOXL2
Protein Name(s)	Forkhead box protein L2
External Links
UniProt	P58012
EMBL	AF301906 DQ016609 BC062549
CCDS	CCDS3105.1
RefSeq	NP_075555.1
UniGene	Hs.289292
ProteinModelPortal	P58012
SMR	P58012
BioGrid	107136
IntAct	P58012
STRING	9606.ENSP00000333188
PhosphoSite	P58012
DMDM	13626838
MaxQB	P58012
PaxDb	P58012
PRIDE	P58012
Ensembl	ENST00000330315
GeneID	668
KEGG	hsa:668
UCSC	uc003esw.3
CTD	668
GeneCards	GC03M138663
GeneReviews	FOXL2
HGNC	HGNC:1092
MIM	110100 605597 608996
neXtProt	NX_P58012
Orphanet	261559 261572 619
PharmGKB	PA28235
eggNOG	COG5025
HOVERGEN	HBG051651
InParanoid	P58012
KO	K09405
OMA	ELSMMHC
OrthoDB	EOG7C8GHD
PhylomeDB	P58012
TreeFam	TF316127
GeneWiki	Forkhead_box_L2
GenomeRNAi	668
NextBio	2732
PRO	PR:P58012
Proteomes	UP000005640
Bgee	P58012
CleanEx	HS_FOXL2
ExpressionAtlas	P58012
Genevestigator	P58012
GO	GO:0005634 GO:0043028 GO:0003677 GO:0043565 GO:0003700 GO:0031624 GO:0006309 GO:0030154 GO:0048048 GO:0002074 GO:0019101 GO:0060014 GO:0042703 GO:0000122 GO:0045892 GO:0001541 GO:0043065 GO:0043280 GO:0045944 GO:0045893 GO:0006351
Gene3D	1.10.10.10
InterPro	IPR001766 IPR018122 IPR011991
Pfam	PF00250
PRINTS	PR00053
SMART	SM00339
PROSITE	PS00657 PS00658 PS50039

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR001766	F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:Q61660	F	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8MIP2	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:19744555^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	PMID:16153597^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	PMID:16153597^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0043028	cysteine-type endopeptidase regulator activity involved in apoptotic process	PMID:16153597^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0031624	ubiquitin conjugating enzyme binding	PMID:19744555^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P63279	F	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	PMID:12471206^[4]	ECO:0000303	author statement without traceable support used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0006309	apoptotic DNA fragmentation	PMID:16153597^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:12471206^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	PMID:11175783^[5]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	PMID:12471206^[4]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8MIP2	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	PMID:16720712^[6]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0002074	extraocular skeletal muscle development	PMID:12630957^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001541	ovarian follicle development	PMID:12161610^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001541	ovarian follicle development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q8MIP2	P	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000930906 WB:WBGene00004013	P	Seeded From UniProt	complete
involved_in	GO:0009653	anatomical structure morphogenesis	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1347476 PANTHER:PTN000930906	P	Seeded From UniProt	complete
involved_in	GO:0006357	regulation of transcription by RNA polymerase II	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000659 MGI:MGI:1347472 MGI:MGI:1347477 PANTHER:PTN000930906 UniProtKB:O00358 UniProtKB:Q9Y261 ZFIN:ZDB-GENE-000616-15	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000659 FB:FBgn0003430 FB:FBgn0004895 FB:FBgn0014143 MGI:MGI:1347466 MGI:MGI:1347472 MGI:MGI:1347476 MGI:MGI:1347477 MGI:MGI:1349428 MGI:MGI:1353569 MGI:MGI:1927549 MGI:MGI:95546 PANTHER:PTN000930906 PomBase:SPBC32H8.11 PomBase:SPBC4C3.12 RGD:2807 RGD:2808 RGD:2809 SGD:S000000661 SGD:S000001393 UniProtKB:O00358 UniProtKB:P55317 UniProtKB:P58012 UniProtKB:Q12948 UniProtKB:Q13461 UniProtKB:Q5AS72 UniProtKB:Q99958 UniProtKB:Q9Y261 WB:WBGene00001434 WB:WBGene00001441 WB:WBGene00002601 WB:WBGene00003017 WB:WBGene00004013 WB:WBGene00006853	C	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:21873635^[9]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0000659 PANTHER:PTN000930906 RGD:621723 UniProtKB:O00358 WB:WBGene00004013 ZFIN:ZDB-GENE-000616-15	F	Seeded From UniProt	complete
involved_in	GO:0043065	positive regulation of apoptotic process	PMID:16153597^[3]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q9UHI6	P	Seeded From UniProt	complete
part_of	GO:0045171	intercellular bridge	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0060065	uterus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0060014	granulosa cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0048048	embryonic eye morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0046881	positive regulation of follicle-stimulating hormone secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0033686	positive regulation of luteinizing hormone secretion	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
enables	GO:0030331	estrogen receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	F	Seeded From UniProt	complete
involved_in	GO:0019101	female somatic sex determination	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0008585	female gonad development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0007338	single fertilization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	C	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	F	Seeded From UniProt	complete
involved_in	GO:0001541	ovarian follicle development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
enables	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	F	Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	F	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O88470 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0048048	embryonic eye morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q2TVT7 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
involved_in	GO:0001555	oocyte growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q2TVT7 ensembl:ENSMUSP00000053297	P	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001766 InterPro:IPR018122 InterPro:IPR030456	F	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001766 InterPro:IPR018122 InterPro:IPR030456	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001766 InterPro:IPR018122 InterPro:IPR030456	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	PMID:11175783^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-3968414	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0221	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ ^2.0 ^2.1 Kuo, FT et al. (2009) Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene. Cell. Signal. 21 1935-44 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Lee, K et al. (2005) Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis. Biochem. Biophys. Res. Commun. 336 876-81 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Cocquet, J et al. (2002) Evolution and expression of FOXL2. J. Med. Genet. 39 916-21 PubMed GONUTS page
↑ ^5.0 ^5.1 Crisponi, L et al. (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 27 159-66 PubMed GONUTS page
↑ Pannetier, M et al. (2006) FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development. J. Mol. Endocrinol. 36 399-413 PubMed GONUTS page
↑ Dollfus, H et al. (2003) Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin. Genet. 63 117-20 PubMed GONUTS page
↑ De Baere, E et al. (2002) FOXL2 mutation screening in a large panel of POF patients and XX males. J. Med. Genet. 39 e43 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:19274049-1] Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:19744555-2] 2.0 ^2.1 Kuo, FT et al. (2009) Sumoylation of forkhead L2 by Ubc9 is required for its activity as a transcriptional repressor of the Steroidogenic Acute Regulatory gene. Cell. Signal. 21 1935-44 PubMed GONUTS page

[PMID:16153597-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Lee, K et al. (2005) Transcriptional factor FOXL2 interacts with DP103 and induces apoptosis. Biochem. Biophys. Res. Commun. 336 876-81 PubMed GONUTS page

[PMID:12471206-4] 4.0 ^4.1 ^4.2 Cocquet, J et al. (2002) Evolution and expression of FOXL2. J. Med. Genet. 39 916-21 PubMed GONUTS page

[PMID:11175783-5] 5.0 ^5.1 Crisponi, L et al. (2001) The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet. 27 159-66 PubMed GONUTS page

[PMID:16720712-6] Pannetier, M et al. (2006) FOXL2 activates P450 aromatase gene transcription: towards a better characterization of the early steps of mammalian ovarian development. J. Mol. Endocrinol. 36 399-413 PubMed GONUTS page

[PMID:12630957-7] Dollfus, H et al. (2003) Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin. Genet. 63 117-20 PubMed GONUTS page

[PMID:12161610-8] De Baere, E et al. (2002) FOXL2 mutation screening in a large panel of POF patients and XX males. J. Med. Genet. 39 e43 PubMed GONUTS page

[PMID:21873635-9] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:FOXL2

Contents

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