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

    Gene ID: 344018, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    See FIGLA in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene transforming growth factor alpha Neighboring gene uncharacterized LOC124907824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11613 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70796083-70797282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:70823358-70824557 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:70847073-70847578 Neighboring gene uncharacterized LOC105374794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:70904853-70906052 Neighboring gene adducin 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:70937501-70938030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70939798-70940354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70940911-70941466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70940355-70940910 Neighboring gene Sharpr-MPRA regulatory region 8528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70963227-70963968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70971761-70972262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70994467-70995032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70995033-70995598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70996008-70996572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16008 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:71027218-71027772 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1276 screens)

    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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin  
    located_in nucleus  
    part_of transcription regulator complex 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)

    NEW Try the new Transcript table

    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_001004311.3 → 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, ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      70788361..70801694 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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