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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FIGLA
folliculogenesis specific bHLH transcription factor
Chromosome 2 Β· 2p13.3
NCBI Gene: 344018Ensembl: ENSG00000183733.6HGNC: HGNC:24669UniProt: Q6QHK4
21PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
E-box bindingprotein bindingbHLH transcription factor bindingsequence-specific double-stranded DNA bindingprimary ovarian insufficiency46,XX gonadal dysgenesis46 XX gonadal dysgenesisgenetic non-acquired premature ovarian failure
✦AI Summary

FIGLA (folliculogenesis specific bHLH transcription factor) is a germline-specific transcription factor that plays a critical role in oocyte development and early folliculogenesis 1. The protein functions as a basic helix-loop-helix transcription factor that binds to E-box sequences in target gene promoters, regulating expression of multiple oocyte-specific genes including zona pellucida proteins (ZP1, ZP2, ZP3) essential for fertilization 1. FIGLA is essential for oocyte survival and primordial follicle formation, with deficiency leading to impaired meiotic progression, DNA damage, and oocyte apoptosis 2. The protein operates within a transcriptional network alongside LHX8 and SOHLH1, where these factors cross-regulate each other and cooperate through direct protein interactions to control oocyte growth and differentiation 2. FIGLA expression is detected throughout follicle development from primordial to secondary stages and in mature oocytes, with higher expression in adult versus pre-pubertal mice promoting secondary follicle growth 3. Mutations in FIGLA are associated with primary ovarian insufficiency (POI), contributing to approximately 1-2% of cases 45. Specific variants including p.(Arg83Cys) in the functional bHLH domain show strong association with idiopathic POF in clinical populations 6, highlighting FIGLA's importance in female reproductive health.

Sources cited
1
FIGLA is a germline-specific transcription factor that regulates zona pellucida proteins and is essential for folliculogenesis
PMID: 12468641
2
FIGLA deficiency impairs meiotic progression, causes DNA damage, and leads to oocyte apoptosis; operates in transcriptional networks with LHX8 and SOHLH1
PMID: 32086523
3
FIGLA expression is higher in adult mice and promotes secondary follicle growth
PMID: 33972571
4
FIGLA mutations contribute to approximately 1-2% of primary ovarian insufficiency cases
PMID: 26243799
5
FIGLA is among genes associated with nonsyndromic POI and ovarian development pathways
PMID: 34794894
6
Specific FIGLA variants including p.(Arg83Cys) show strong association with idiopathic POF in clinical populations
PMID: 25314148
Disease Associationsβ“˜21
primary ovarian insufficiencyOpen Targets
0.65Moderate
46,XX gonadal dysgenesisOpen Targets
0.38Weak
46 XX gonadal dysgenesisOpen Targets
0.37Weak
genetic non-acquired premature ovarian failureOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.30Weak
pernicious anemiaOpen Targets
0.29Weak
influenza A (H1N1)Open Targets
0.28Weak
Parkinson diseaseOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
femur fractureOpen Targets
0.08Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
ring chromosome YOpen Targets
0.04Suggestive
spermatogenic failure 12Open Targets
0.04Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.04Suggestive
Familial hyperprolactinemiaOpen Targets
0.04Suggestive
familial hyperprolactinemiaOpen Targets
0.04Suggestive
Perrault syndrome 6Open Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
ovarian dysgenesis 10Open Targets
0.04Suggestive
Premature ovarian failure 6UniProt
Pathogenic Variants6
NM_001004311.3(FIGLA):c.164C>A (p.Ser55Ter)Likely pathogenic
Premature ovarian failure 6
β˜…β˜†β˜†β˜†2024β†’ Residue 55
NM_001004311.3(FIGLA):c.339T>G (p.Tyr113Ter)Pathogenic
Premature ovarian failure 6
β˜†β˜†β˜†β˜†2025β†’ Residue 113
NM_001004311.3(FIGLA):c.319C>T (p.Leu107Phe)Likely pathogenic
Genetic non-acquired premature ovarian failure
β˜†β˜†β˜†β˜†2019β†’ Residue 107
NM_001004311.3(FIGLA):c.2T>C (p.Met1Thr)Pathogenic
Premature ovarian failure 6
β˜†β˜†β˜†β˜†2019β†’ Residue 1
NM_001004311.3(FIGLA):c.15_36del (p.Gly6fs)Pathogenic
Premature ovarian failure 6
β˜†β˜†β˜†β˜†2008β†’ Residue 6
NM_001004311.3(FIGLA):c.416ACA[1] (p.Asn140del)Pathogenic
Premature ovarian failure 6
β˜†β˜†β˜†β˜†2008β†’ Residue 140
View on ClinVar β†—
Related Genes
FOXL2Protein interaction96%DIAPH2Protein interaction96%POF1BProtein interaction96%YBX2Protein interaction87%FMR1Protein interaction78%ZP2Protein interaction76%
Tissue Expression6 tissues
Ovary
100%
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FIGLAFOXL2DIAPH2POF1BYBX2FMR1ZP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6QHK4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.47–1.28]
RankingsWhere FIGLA stands among ~20K protein-coding genes
  • #13,908of 20,598
    Most Researched21
  • #3,443of 5,498
    Most Pathogenic Variants6
  • #13,479of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedFIGLA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of primary ovarian insufficiency: new developments and opportunities.
PMID: 26243799
Hum Reprod Update Β· 2015
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
FIGLA, LHX8 and SOHLH1 transcription factor networks regulate mouse oocyte growth and differentiation.
PMID: 32086523
Nucleic Acids Res Β· 2020
0.80
4
A chemical genetics approach to examine the functions of AAA proteins.
PMID: 33782614
Nat Struct Mol Biol Β· 2021
0.70
5
Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes.
PMID: 12468641
Mol Hum Reprod Β· 2002
0.60