Folliculogenesis specific bHLH transcription factor
Gene symbol
FIGLA
Synonyms (NCBI Gene)
BHLHC8FIGALPHAPOF6
Chromosome
2
Chromosome location
2p13.3
Summary
This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those tha
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Factor in the germline alpha (FIGalpha) (Class C basic helix-loop-helix protein 8) (bHLHc8) (Folliculogenesis-specific basic helix-loop-helix protein) (Transcription factor FIGa)
Protein function
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
TISSUE SPECIFICITY: Germ cells. Expressed in the fetal ovary, but not by a range of other tissues. Expression increases across mid-gestation, rising some 40-fold by the time of primordial follicle formation. {ECO:0000269|PubMed:12468641, ECO:0000269|PubMe
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Diseases Linked via Similar GenesDiseases curated for genes most similar to FIGLA (see Related Genes above), that are NOT already directly curated for FIGLA itself -- a lead worth checking, not a confirmed association.