Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Forkhead box protein L2

Gene

FOXL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 repression of the Sertoli cell-promoting gene SOX9 (By similarity). Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen (By similarity). Is a regulator of CYP19 expression (By similarity). Participates in SMAD3-dependent transcription of FST via the intronic SMAD-binding element (By similarity). Is a transcriptional repressor of STAR. Activates SIRT1 transcription under cellular stress conditions. Activates transcription of OSR2.By similarity4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi54 – 148Fork-headPROSITE-ProRule annotationAdd BLAST95

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3232118 SUMOylation of transcription factors

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P58012

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Forkhead box protein L2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FOXL2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183770.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1092 FOXL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605597 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P58012

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)13 Publications
The disease is caused by mutations 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.
Disease descriptionA 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.
See also OMIM:110100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02119658S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_06254563I → T in BPES. 1 PublicationCorresponds to variant dbSNP:rs1315073489Ensembl.1
Natural variantiVAR_04649065M → V in BPES. 1 Publication1
Natural variantiVAR_02119766A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_02119869E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs387906920EnsemblClinVar.1
Natural variantiVAR_04649180I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_04649284I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_01688384I → S in BPES; type I. 1 PublicationCorresponds to variant dbSNP:rs28937884EnsemblClinVar.1
Natural variantiVAR_01688485Missing in BPES; sporadic. 1 Publication1
Natural variantiVAR_04649390F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_04649498W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_06254698W → R in BPES. 1 PublicationCorresponds to variant dbSNP:rs1057516149Ensembl.1
Natural variantiVAR_046495101S → R in BPES; nuclear aggregation; impaired transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516151Ensembl.1
Natural variantiVAR_046496102I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_046497103R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 2 Publications1
Natural variantiVAR_021199104H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516153Ensembl.1
Natural variantiVAR_021200105N → S in BPES; type II. 1
Natural variantiVAR_016885106L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516156Ensembl.1
Natural variantiVAR_046498106L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_062547108L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication1
Natural variantiVAR_016886109N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 2 Publications1
Natural variantiVAR_021202193K → R in BPES; type II. Corresponds to variant dbSNP:rs1057516162Ensembl.1
Natural variantiVAR_021203215Y → C in BPES. 2 PublicationsCorresponds to variant dbSNP:rs1057516168Ensembl.1
Natural variantiVAR_062549217S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication1
Natural variantiVAR_016887217S → F in BPES; diffuse nuclear localization; increased transactivation activity. 3 PublicationsCorresponds to variant dbSNP:rs797044527EnsemblClinVar.1
Natural variantiVAR_037303234A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication1
Natural variantiVAR_010782234A → AAAAAAAAAAA in BPES; type II. 2 Publications1
Natural variantiVAR_025306234A → AAAAAAAAAAAA in BPES. 1 Publication1
Premature ovarian failure 3 (POF3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608996
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015181187G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 PublicationsCorresponds to variant dbSNP:rs121908359EnsemblClinVar.1
Natural variantiVAR_021204258Y → N in POF3. 1 PublicationCorresponds to variant dbSNP:rs28937885EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi25K → R: Results in reduced sumoylation. Loss of transcriptional repression activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNET

More...
DisGeNETi
668

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
FOXL2

MalaCards human disease database

More...
MalaCardsi
FOXL2
MIMi110100 phenotype
608996 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183770

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
261559 Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
261572 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
261579 Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
99915 Maligant granulosa cell tumor of the ovary
619 NON RARE IN EUROPE: Primary ovarian failure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28235

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FOXL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
13626838

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000918611 – 376Forkhead box protein L2Add BLAST376

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki25Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei33PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated with SUMO1; sumoylation is required for transcriptional repression activity.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P58012

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P58012

PeptideAtlas

More...
PeptideAtlasi
P58012

PRoteomics IDEntifications database

More...
PRIDEi
P58012

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57047

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P58012

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P58012

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

In granulosa-like cells, up-regulated at transcript and protein levels under oxidative stress and heat-shock conditions. Down-regulated by SIRT1.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183770 Expressed in 49 organ(s), highest expression level in female gonad

CleanEx database of gene expression profiles

More...
CleanExi
HS_FOXL2

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P58012 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P58012 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA069613

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ESR1 (By similarity). Interacts with SMAD3 (By similarity). Interacts with DDX20. Interacts with UBE2I/UBC9.By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107136, 66 interactors

Protein interaction database and analysis system

More...
IntActi
P58012, 50 interactors

Molecular INTeraction database

More...
MINTi
P58012

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000333188

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P58012

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P58012

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 43Poly-Gly9
Compositional biasi221 – 234Poly-AlaAdd BLAST14
Compositional biasi284 – 292Poly-Pro9
Compositional biasi301 – 304Poly-Ala4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2294 Eukaryota
COG5025 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162075

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051651

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P58012

KEGG Orthology (KO)

More...
KOi
K09405

Identification of Orthologs from Complete Genome Data

More...
OMAi
SMMHCSY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0ESH

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P58012

TreeFam database of animal gene trees

More...
TreeFami
TF316127

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00059 FH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00250 Forkhead, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00053 FORKHEAD

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00339 FH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785 SSF46785, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P58012-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMASYPEPED AAGALLAPET GRTVKEPEGP PPSPGKGGGG GGGTAPEKPD
60 70 80 90 100
PAQKPPYSYV ALIAMAIRES AEKRLTLSGI YQYIIAKFPF YEKNKKGWQN
110 120 130 140 150
SIRHNLSLNE CFIKVPREGG GERKGNYWTL DPACEDMFEK GNYRRRRRMK
160 170 180 190 200
RPFRPPPAHF QPGKGLFGAG GAAGGCGVAG AGADGYGYLA PPKYLQSGFL
210 220 230 240 250
NNSWPLPQPP SPMPYASCQM AAAAAAAAAA AAAAGPGSPG AAAVVKGLAG
260 270 280 290 300
PAASYGPYTR VQSMALPPGV VNSYNGLGGP PAAPPPPPHP HPHPHAHHLH
310 320 330 340 350
AAAAPPPAPP HHGAAAPPPG QLSPASPATA APPAPAPTSA PGLQFACARQ
360 370
PELAMMHCSY WDHDSKTGAL HSRLDL
Length:376
Mass (Da):38,772
Last modified:April 27, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB4952F2A0380E533
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02119658S → L in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_06254563I → T in BPES. 1 PublicationCorresponds to variant dbSNP:rs1315073489Ensembl.1
Natural variantiVAR_04649065M → V in BPES. 1 Publication1
Natural variantiVAR_02119766A → V in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_02119869E → K in BPES; sporadic; nuclear aggregation; normal transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs387906920EnsemblClinVar.1
Natural variantiVAR_04649180I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_04649284I → N in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_01688384I → S in BPES; type I. 1 PublicationCorresponds to variant dbSNP:rs28937884EnsemblClinVar.1
Natural variantiVAR_01688485Missing in BPES; sporadic. 1 Publication1
Natural variantiVAR_04649390F → S in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_04649498W → G in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_06254698W → R in BPES. 1 PublicationCorresponds to variant dbSNP:rs1057516149Ensembl.1
Natural variantiVAR_046495101S → R in BPES; nuclear aggregation; impaired transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516151Ensembl.1
Natural variantiVAR_046496102I → T in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_046497103R → C in BPES; nuclear and cytoplasmic aggregation; normal transactivation activity. 2 Publications1
Natural variantiVAR_021199104H → R in BPES; diffuse nuclear localization as wild type; normal transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516153Ensembl.1
Natural variantiVAR_021200105N → S in BPES; type II. 1
Natural variantiVAR_016885106L → F in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 PublicationsCorresponds to variant dbSNP:rs1057516156Ensembl.1
Natural variantiVAR_046498106L → P in BPES; nuclear and cytoplasmic aggregation; impaired transactivation activity. 2 Publications1
Natural variantiVAR_062547108L → P in BPES; nuclear aggregation and cytoplasmic mislocalization; impaired transactivation activity. 1 Publication1
Natural variantiVAR_016886109N → K in BPES; type II; diffuse nuclear localization as wild type; impaired transactivation activity. 2 Publications1
Natural variantiVAR_062548134C → W in granulosa-cell tumors of the ovary; not commonly found in other tumor types. 2 PublicationsCorresponds to variant dbSNP:rs1057519865Ensembl.1
Natural variantiVAR_021201179A → G2 PublicationsCorresponds to variant dbSNP:rs7432551EnsemblClinVar.1
Natural variantiVAR_015181187G → D in POF3; does not affect nuclear localization; reduces transcriptional activation of OSR2. 2 PublicationsCorresponds to variant dbSNP:rs121908359EnsemblClinVar.1
Natural variantiVAR_021202193K → R in BPES; type II. Corresponds to variant dbSNP:rs1057516162Ensembl.1
Natural variantiVAR_021203215Y → C in BPES. 2 PublicationsCorresponds to variant dbSNP:rs1057516168Ensembl.1
Natural variantiVAR_062549217S → C in BPES; diffuse nuclear localization; normal transcriptional activation. 1 Publication1
Natural variantiVAR_016887217S → F in BPES; diffuse nuclear localization; increased transactivation activity. 3 PublicationsCorresponds to variant dbSNP:rs797044527EnsemblClinVar.1
Natural variantiVAR_037303234A → AAAAAA in BPES; significant higher cytoplasmic retention compared to the wild-type protein. 1 Publication1
Natural variantiVAR_010782234A → AAAAAAAAAAA in BPES; type II. 2 Publications1
Natural variantiVAR_025306234A → AAAAAAAAAAAA in BPES. 1 Publication1
Natural variantiVAR_021204258Y → N in POF3. 1 PublicationCorresponds to variant dbSNP:rs28937885EnsemblClinVar.1
Natural variantiVAR_015182285P → S1 Publication1
Natural variantiVAR_078138349R → G1 PublicationCorresponds to variant dbSNP:rs201840174EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF301906 mRNA Translation: AAK01352.1
DQ016609 Genomic DNA Translation: AAY21823.1
BC062549 mRNA Translation: AAH62549.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3105.1

NCBI Reference Sequences

More...
RefSeqi
NP_075555.1, NM_023067.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.289292

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000330315; ENSP00000333188; ENSG00000183770
ENST00000648323; ENSP00000497217; ENSG00000183770

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
668

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:668

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Forkhead box L2 (FOXL2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF301906 mRNA Translation: AAK01352.1
DQ016609 Genomic DNA Translation: AAY21823.1
BC062549 mRNA Translation: AAH62549.1
CCDSiCCDS3105.1
RefSeqiNP_075555.1, NM_023067.3
UniGeneiHs.289292

3D structure databases

ProteinModelPortaliP58012
SMRiP58012
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107136, 66 interactors
IntActiP58012, 50 interactors
MINTiP58012
STRINGi9606.ENSP00000333188

PTM databases

iPTMnetiP58012
PhosphoSitePlusiP58012

Polymorphism and mutation databases

BioMutaiFOXL2
DMDMi13626838

Proteomic databases

EPDiP58012
PaxDbiP58012
PeptideAtlasiP58012
PRIDEiP58012
ProteomicsDBi57047

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330315; ENSP00000333188; ENSG00000183770
ENST00000648323; ENSP00000497217; ENSG00000183770
GeneIDi668
KEGGihsa:668

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
668
DisGeNETi668
EuPathDBiHostDB:ENSG00000183770.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FOXL2
GeneReviewsiFOXL2
HGNCiHGNC:1092 FOXL2
HPAiHPA069613
MalaCardsiFOXL2
MIMi110100 phenotype
605597 gene
608996 phenotype
neXtProtiNX_P58012
OpenTargetsiENSG00000183770
Orphaneti261559 Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
261572 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
261579 Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
99915 Maligant granulosa cell tumor of the ovary
619 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA28235

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00940000162075
HOVERGENiHBG051651
InParanoidiP58012
KOiK09405
OMAiSMMHCSY
OrthoDBiEOG091G0ESH
PhylomeDBiP58012
TreeFamiTF316127

Enzyme and pathway databases

ReactomeiR-HSA-3232118 SUMOylation of transcription factors
SIGNORiP58012

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Forkhead_box_L2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
668

Protein Ontology

More...
PROi
PR:P58012

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183770 Expressed in 49 organ(s), highest expression level in female gonad
CleanExiHS_FOXL2
ExpressionAtlasiP58012 baseline and differential
GenevisibleiP58012 HS

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFOXL2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P58012
Secondary accession number(s): Q4ZGJ3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 27, 2001
Last modified: December 5, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again