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

    Gene ID: 344018, updated on 15-Jun-2019

    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

    Genomic context

    See FIGLA in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (70777310..70790643, complement)
    105 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 uncharacterized LOC107985895 Neighboring gene TGFA intronic transcript 1 Neighboring gene transforming growth factor alpha Neighboring gene uncharacterized LOC105374794 Neighboring gene adducin 2 Neighboring gene MOB family member 4, phocein pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 21 Neighboring gene C-type lectin domain family 4 member F

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    oocyte development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor 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)

    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 Annotation Release 109

    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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