FOXL2 (forkhead box L2)

2007-04-01  

Identity

HGNC
FOXL2
LOCATION
3q22.3
LOCUSID
668
ALIAS
BPES,BPES1,PFRK,PINTO,POF3

Other Information

Locus ID:

NCBI: 668
MIM: 605597
HGNC: 1092
Ensembl: ENSG00000183770

Variants:

dbSNP: 668
ClinVar: 668
TCGA: ENSG00000183770
COSMIC: FOXL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183770ENST00000648323P58012
ENSG00000183770ENST00000648323Q53ZD3

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
372554762024FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology.0
379380732024Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.0
381921722024FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.2
372554762024FOXL2 Mutation Status in Sex Cord-stromal Tumors Cannot be Predicted by Morphology.0
379380732024Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.0
381921722024FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.2
363991882023Incidental FOXL2 mutated adult granulosa cell tumour of the ovary with thecoma-like foci.1
375322832023ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis and favors the follicular-luteal transition.1
377981062023FOXL2: a gene central to ovarian function.0
379326702023Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.0
363991882023Incidental FOXL2 mutated adult granulosa cell tumour of the ovary with thecoma-like foci.1
375322832023ERK1/2-SOX9/FOXL2 axis regulates ovarian steroidogenesis and favors the follicular-luteal transition.1
377981062023FOXL2: a gene central to ovarian function.0
379326702023Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.0
343746752022A Novel Forkhead Box L2 Missense Mutation, c.1068G>C, in a Chinese Family With Blepharophimosis/Ptosis/ Epicanthus Inversus Syndrome.0

Citation

Dessen P

FOXL2 (forkhead box L2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47069/case-report-explorer/js/favicon/apple-touch-icon.png