FOXL2 - forkhead box L2 Gene

Also Known as BPES; PFRK; POF3; BPES1; PINTO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 668

About FOXL2

Cytogenetic location: 3q22.3 Genomic coordinates (GRCh38): 3:138,944,224-138,947,137 (from NCBI)

This gene has 1 transcript (splice variant), 170 orthologues, 42 paralogues and is associated with 72 phenotypes.

Summary

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]

FOXL2 Products (1)

mRNA	Protein	Name
NM_023067.4	NP_075555.1	forkhead box protein L2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	16720712	GOA
enables cysteine-type endopeptidase regulator activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	16153597	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16153597	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables ubiquitin conjugating enzyme binding	IPI IPI: Inferred from physical interaction	19744555	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in apoptotic DNA fragmentation	IMP IMP: Inferred from mutant phenotype	16153597	GOA
involved in extraocular skeletal muscle development	IMP IMP: Inferred from mutant phenotype	12630957	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19744555	GOA
involved in ovarian follicle development	IMP IMP: Inferred from mutant phenotype	12161610	GOA
acts upstream of or within positive regulation of apoptotic process	IGI IGI: Inferred from genetic interaction	16153597	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	16153597	GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	16153597	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	12471206	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXL2 Protein Structure

Forkhead

0
100
200
300
376 a.a.

Protein Preferred Names	Protein Names
forkhead box protein L2	forkhead transcription factor FOXL2

FOXL2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81579	FOXL2 Antibody (YA1324)	IHC-P	Human, Mouse

Related Diseases

Diseases	Alias
Blepharophimosis, Ptosis, And Epicanthus Inversus	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome BPES Blepharophimosis Syndrome Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1 Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Bpes With Duane Retraction Syndrome Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2 Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1 Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2 Bpes Type 2 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus 3q23 Microdeletion Syndrome Bpes Plus Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1 Bpes Type 1 Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure Blepharophimosis, Ptosis, Epicanthus Inversus Autosomal Dominant Bpes Type I Autosomal Recessive Bpes Type I Bpes Type I Bpes Type Ii Bpes Without Ovarian Failure Bpes With Ovarian Failure Blepharophimosis Syndrome Type 1 Blepharophimosis Syndrome Type 2
Premature Ovarian Failure 3	POF3 Ovarian Failure, Premature, Type 3
Maligant Granulosa Cell Tumor Of The Ovary	Granulosa Cell Cancer Granulosa Cell Malignant Tumor Maligant Granulosa Cell Tumor Of Ovary
Genetic Non-Acquired Premature Ovarian Failure
Blepharophimosis
Epicanthus
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Testicular Granulosa Cell Tumor	Granulosa Cell Tumor Of Testis Granulosa Cell Tumour Of Testis Testicular Granulosa Cell Tumour
Juvenile Type Testicular Granulosa Cell Tumor	Juvenile Granulosa Cell Tumor Juvenile Granulosa Cell Tumour Juvenile Type Granulosa Cell Neoplasm Juvenile Type Granulosa Cell Tumor Juvenile Type Granulosa Cell Tumour Juvenile Type Testicular Granulosa Cell Tumour
Ovarian Sex-Cord Stromal Tumor	Ovarian Sex Cord Tumor With Annular Tubules Ovarian Sex Cord-Stromal Tumor Stromal Tumor Of Ovary
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Gonadoblastoma	GBY
Ovarian Wilms' Cancer	Ovarian Wilms' Tumor
Hermaphroditism
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Combined Oxidative Phosphorylation Deficiency 5	COXPD5 Hypotonia With Lactic Acidemia And Hyperammonemia Combined Oxidative Phosphorylation Defect Type 5 Combined Oxidative Phosphorylation Deficiency, Type 5
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	GDACCF Developmental Disabilities
Amenorrhea	Absence Of Menstruation Amenia
Marcus Gunn Phenomenon	Jaw-Winking Syndrome Marcus-Gunn Syndrome Jaw-Winking Maxillopalpebral Synkinesis Abnormal Innervation Syndrome Of Eyelid Jaw-Blinking Pterygoid-Levator Synkinesis Familial Marcus Gunn Phenomenon Marcus Gunn Syndrome Mandibulo-Palpebral Synkinesis-Ptosis Syndrome Marcus-Gunn Phenomenon
Adult Type Testicular Granulosa Cell Tumor
Congenital Symblepharon
Testicular Fibroma
Sex Cord-Gonadal Stromal Tumor	Sex Cord-Gonadal Stromal Tumour Sex Cord Stromal Tumour Sex Cord-Stromal Neoplasm Specialized Gonadal Neoplasm Specialized Gonadal Tumor Specialized Gonadal Tumour Sex Cord-Gonadal Stromal Tumors Sex Cord-Stromal Tumor Malignant Testicular Sex Cord-Stromal Tumor Sex Cord Stromal Tumor Of Testis
Luteoma	Leuteoma Of Pregnancy Luteoma Of Pregnancy
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Kidney Cortex Disease
46,Xy Sex Reversal 2	Dosage-Sensitive Sex Reversal Dss SRXY2 46,Xy Sex Reversal, Dax1-Related 46xy Sex Reversal 2, Dosage-Sensitive 46,Xy Sex Reversal Dax1-Related
46,Xx Sex Reversal	46,Xx Testicular Disorder Of Sex Development 46,Xx Testicular Dsd De La Chapelle Syndrome Srxx Xx, Male Syndrome 46, Xx Testicular Disorders Of Sex Development
Estrogen Excess	Hyperestrogenism
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Mixed Germ Cell-Sex Cord Neoplasm	Mixed Germ Cell-Sex Cord-Stromal Tumor Mixed Germ Cell-Sex Cord Tumor
Dicer1 Syndrome	Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome Ppb Familial Tumor Susceptibility Syndrome Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Dicer1-Related Pleuropulmonary Blastoma Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome Ppbftds Doid:0081063
Infertility
Mullerian Aplasia And Hyperandrogenism	Mullerian Duct Failure And Hyperandrogenism Wnt4 Deficiency Müllerian Aplasia And Hyperandrogenism Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Like Syndrome Müllerian Duct Failure Wnt4 Müllerian Aplasia Wnt4 Müllerian Aplasia And Ovarian Dysfunction MULLAPL Wnt4 Mullerian Aplasia And Ovarian Dysfunction
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Pleuropulmonary Blastoma	PPB Ppb Familial Tumor And Dysplasia Syndrome Ppbftds Pulmonary Blastoma Blastoma, Pleuropulmonary Dicer1 Syndrome Respiratory Tract Neoplasms
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Ovarian Benign Neoplasm	Benign Ovarian Neoplasm
Amblyopia	Lazy Eye
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Campomelic Dysplasia	Acampomelic Campomelic Dysplasia Camptomelic Dysplasia Campomelic Dysplasia With Autosomal Sex Reversal Cmpd CMD1 Cmpd1 Cmpd1/Sra1 Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal Campomelic Dwarfism Campomelic Syndrome Dysplasia, Campomelic Chronic Myeloproliferative Disorder Familial Dilated Cardiomyopathy
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05062	FOXL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20023	Foxl2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26526	Foxl2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FOXL2	MGD	MGI:1349428
Macaca mulatta	FOXL2	VGNC	VGNC:110364
Rattus norvegicus	FOXL2	RGD	RGD:1310041
Bos taurus	FOXL2	VGNC	VGNC:29093
Others	FOXL2	NCBI