FIGLA
Folliculogenesis Specific BHLH Transcription Factor
Gene Information Card
| Symbol | FIGLA |
|---|---|
| Full Name | Folliculogenesis Specific BHLH Transcription Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 344018 ncbi.nlm.nih.gov/gene/344018 |
| Ensembl ID | ENSG00000183723 |
| UniProt ID | Q6QHK4 |
| OMIM ID | 608697 |
| HGNC ID | 24669 |
| Aliases | FIGALPHA, bHLHc8, POF6 |
Description
FIGLA (Folliculogenesis Specific BHLH Transcription Factor) encodes a basic helix-loop-helix (bHLH) transcription factor essential for ovarian folliculogenesis. It regulates the expression of zona pellucida genes and is critical for oocyte development and primordial follicle formation. Mutations in FIGLA are associated with premature ovarian failure 6 (POF6).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature Ovarian Failure 6 (POF6) | Loss-of-function mutations in FIGLA disrupt oocyte-specific gene expression, impairing follicle formation and leading to early ovarian insufficiency. | OMIM #612310; ClinVar pathogenic variants |
| Primary Ovarian Insufficiency (POI) | Heterozygous and homozygous FIGLA variants reduce transcriptional activation of zona pellucida genes, causing ovarian dysfunction. | NCBI Gene; multiple case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 0.2 | Not detected |
| Uterus | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ovarian cancer cell line (OVCAR-3) | 0.0 | Not expressed |
| Embryonic stem cell (H1) | 0.0 | Not expressed |
| Oocyte (primary) | High | Oocyte-specific expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.140C>A (p.Ser47*) | Nonsense | Rare | Loss of function; associated with POF6 |
| c.419G>A (p.Arg140His) | Missense | Rare | Reduced DNA binding; reported in POI |
| c.2T>C (p.Met1?) | Start loss | Rare | Complete loss of protein; POF6 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that truncate or abolish FIGLA protein, leading to impaired oocyte development and premature ovarian failure.
Gain of Function (GOF)
No gain-of-function mutations reported for FIGLA.
Dominant Negative (DN)
Heterozygous missense variants (e.g., p.Arg140His) may act in a dominant-negative manner by interfering with wild-type FIGLA function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oocyte development and folliculogenesis
• Zona pellucida formation
Protein Summary
FIGLA is a 219-amino acid bHLH transcription factor that forms heterodimers with other bHLH proteins (e.g., TCF3) to activate oocyte-specific genes, including ZP1, ZP2, and ZP3. It is essential for the formation of primordial follicles and the maintenance of ovarian reserve. Loss of FIGLA function leads to premature ovarian failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIGLA Knockout HEK293 Cell Line | EDJ-KQ12732 | Human | 344018 | Details Get a Quote |
| FIGLA Knockout HeLa Cell Line | EDJ-KQ59766 | Human | 344018 | Details Get a Quote |
| FIGLA Knockout A-549 Cell Line | EDJ-KQ68235 | Human | 344018 | Details Get a Quote |
| FIGLA Knockout HCT 116 Cell Line | EDJ-KQ76610 | Human | 344018 | Details Get a Quote |
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