FIGLA

Chr 2p13.3

folliculogenesis specific bHLH transcription factor

Aliases:: bHLHc8, Figalpha
MANE:: ENST00000332372.6

OMIM: 608697 ↗NCBI: 344018 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FIGLA · Q6QHK4

v62025-08-01

Predicted Aligned Error matrix for FIGLA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.3/ 100

Confident

219 residues

Confidence breakdown

Very high(≥ 90)39%
Confident(70–90)11%
Low(50–70)24%
Very low(< 50)27%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Primary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

primary ovarian failure
0.49
46,XX gonadal dysgenesis
0.38
46 XX gonadal dysgenesis
0.37
genetic non-acquired premature ovarian failure
0.36
neurodegenerative disease
0.34
diabetes mellitus
0.28
pernicious anemia
0.26
influenza A (H1N1)
0.26
Parkinson disease
0.26
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Factor in the germline alpha

Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E-box (5'-CANNTG-3') of the ZPs (ZP1, ZP2, ZP3) promoters