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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Genetic non-acquired premature ovarian failure	Likely pathogenic	rs1553390248	RCV001661763	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 6	Pathogenic	rs587776535, rs71647804, rs1001164504	RCV000002219 RCV000002220 RCV000785996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIGLA-related condition	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Dwarfism	Dwarfism	BEFREE	30474133		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	33101191	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18499083, 25314148, 29914564, 30474133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	LHGDN	18499083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	18499083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	18499083, 25314148, 29914564, 30474133		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 6	Premature Ovarian Failure	GENOMICS_ENGLAND_DG	18499083		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature Ovarian Failure 6	Premature Ovarian Failure	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	28489605	Associate	★☆☆☆☆ Found in Text Mining only