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

Gene ID: 344018, updated on 8-Jul-2021

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
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
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Genomic context

See FIGLA in Genome Data Viewer
Location:
2p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (70777310..70790643, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71004442..71017775, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transforming growth factor alpha Neighboring gene Sharpr-MPRA regulatory region 10182 Neighboring gene uncharacterized LOC105374794 Neighboring gene adducin 2 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21 Neighboring gene C-type lectin domain family 4 member F Neighboring gene MOB4 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available
Premature ovarian failure 6
MedGen: C2676742 OMIM: 612310 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

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

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

  1. NG_013044.1 RefSeqGene

    Range
    5001..18334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001004311.3NP_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:65122
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    70777310..70790643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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