FIGLA folliculogenesis specific bHLH transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: FIGLAprovided by HGNC
Official Full Name: folliculogenesis specific bHLH transcription factorprovided by HGNC
Primary source: HGNC:HGNC:24669
See related: Ensembl:ENSG00000183733 MIM:608697; AllianceGenome:HGNC:24669
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: POF6; BHLHC8; FIGALPHA
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 that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (70777310..70790643, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (70788361..70801694, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (71004442..71017775, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results support the notion that bi-allelic recessive loss-of-function effects of FIGLA contribute to POI patients with short stature and expand the FIGLA-related phenotypic spectrum.
Title: Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.
Biallelic mutations in FIGLA may be the cause of premature ovarian insufficiency (POI) . This study will aid researchers and clinicians in genetic counseling of POI and provides new insights into understanding the mode of genetic inheritance of FIGLA mutations in POI pathology.
Title: Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.
study identified an association between FIGLA gene variants and the occurrence of premature ovarian failure(POF) in the Indian population; findings suggest that the c.427G->C and c.557C->T alleles lead to an increased risk of POF in Indian women
Title: Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure.
may have a role in the development of primordial follicle before zona pellucida formation
Title: Zona pellucida components are present in human fetal ovary before follicle formation.
the p.140 delN mutation disrupted FIGLA binding to the TCF3 helix-loop-helix (HLH) domain. Our findings show that a subset of Chinese women with sporadic, premature ovarian failure harbor mutations in FIGLA.
Title: Transcription factor FIGLA is mutated in patients with premature ovarian failure.
These results suggest that FIGLA is involved in continued oocyte survival as primordial follicles form in the human as in the rodent ovary.
Title: Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary.
Expression of mRNA observed in ovarian follicles, mature oocytes, and less frequently in preimplantation embryos.
Title: Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Premature ovarian failure 6 MedGen: C2676742 OMIM: 612310 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
contributes_to E-box binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oocyte development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: factor in the germline alpha

Names: class C basic helix-loop-helix protein 8; folliculogenesis-specific basic helix-loop-helix protein; transcription factor FIGa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013044.1 RefSeqGene

Range

5001..18334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001004311.3 → NP_001004311.2 factor in the germline alpha

See identical proteins and their annotated locations for NP_001004311.2

Status: REVIEWED

Source sequence(s)

AC007395, AY541030

Consensus CDS

CCDS46320.1

UniProtKB/Swiss-Prot

Q6QHK4

Related

ENSP00000333097.6, ENST00000332372.6

Conserved Domains (1) summary

cd00083
Location:65 → 122

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...