FIGLA (folliculogenesis specific bHLH transcription factor)

2014-11-01  

Identity

HGNC
FIGLA
LOCATION
2p13.3
LOCUSID
344018
ALIAS
BHLHC8,FIGALPHA,POF6

Other Information

Locus ID:

NCBI: 344018
MIM: 608697
HGNC: 24669
Ensembl: ENSG00000183733

Variants:

dbSNP: 344018
ClinVar: 344018
TCGA: ENSG00000183733
COSMIC: FIGLA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183733ENST00000332372Q6QHK4

Expression (GTEx)

0
1
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
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
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
185025692008Zona pellucida components are present in human fetal ovary before follicle formation.2
124686412002Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes.0
150446082004Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary.0
184990832008Transcription factor FIGLA is mutated in patients with premature ovarian failure.0
253141482015Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure.0
299145642018Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.0

Citation

Dessen P

FIGLA (folliculogenesis specific bHLH transcription factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63384/figla