FIGLA (folliculogenesis specific bHLH transcription factor)

Gene

• Entrez ID: 344018
• Gene name: Folliculogenesis specific bHLH transcription factor
• Gene symbol: FIGLA
• Synonyms (NCBI Gene): BHLHC8, FIGALPHA, POF6
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71647804	GTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs587776535	ATCTAGGACGCCGGGCGCGGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1001164504	A>G	Pathogenic	Initiator codon variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1995575	hsa-miR-3154	CLIP-seq
MIRT1995576	hsa-miR-548ag	CLIP-seq
MIRT1995577	hsa-miR-548ai	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IDA	15044608
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0032502	Process	Developmental process	IBA
GO:0043425	Function	BHLH transcription factor binding	IPI	15044608
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0048599	Process	Oocyte development	NAS	15044608
GO:0070888	Function	E-box binding	IPI	15044608
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 608697
• HGNC: 24669
• e!Ensembl: ENSG00000183733

Protein

• UniProt ID: Q6QHK4
• Protein name: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	66 → 118	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: 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
• Sequence:

  MDPAPGVLDPRAAPPALLGTPQAEVLEDVLREQFGPLPQLAAVCRLKRLPSGGYSSTENL
  QLVLERRRVANAKERERIKNLNRGFARLKALVPFLPQSRKPSKVDILKGATEYIQVLSDL
  LEGAKDSKKQDPDEQSYSNNSSESHTSSARQLSRNITQHISCAFGLKNEEEGPWADGGSG
  EPAHACRHSVMSTTEIISPTRSLDRFPEVELLSHRLPQV

• Sequence length: 219

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs1553390248	RCV001661763
Premature ovarian failure 6	Pathogenic	rs587776535, rs71647804, rs1001164504	RCV000002219 RCV000002220 RCV000785996

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cholangiocarcinoma	Benign	rs73937008	RCV005920064
FIGLA-related condition	Benign	rs56135050, rs56316086, rs186548772	RCV004758662 RCV004758663 RCV004758780
Ovarian serous cystadenocarcinoma	Benign	rs17655355	RCV005914857
Premature ovarian failure	Uncertain significance	rs386647171	RCV000271405
Uterine carcinosarcoma	Benign	rs73937008	RCV005920063

Associations from Text Mining
Disease Name	Relationship Type	References
Gonadal Dysgenesis	Associate	33101191
Neoplasms	Associate	28489605
Primary Ovarian Insufficiency	Associate	18499083, 29914564, 31151408
Sezary Syndrome	Associate	28489605