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    POU3F4 POU class 3 homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 5456, updated on 2-Nov-2024

    Summary

    Official Symbol
    POU3F4provided by HGNC
    Official Full Name
    POU class 3 homeobox 4provided by HGNC
    Primary source
    HGNC:HGNC:9217
    See related
    Ensembl:ENSG00000196767 MIM:300039; AllianceGenome:HGNC:9217
    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
    BRN4; DFN3; OTF9; BRN-4; DFNX2; OCT-9; OTF-9; BRAIN-4
    Summary
    This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]
    Orthologs
    NEW
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    Genomic context

    See POU3F4 in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (83508290..83512127)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (81941865..81945703)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (82763298..82767135)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene autophagy related 4A cysteine peptidase pseudogene 1 Neighboring gene uncharacterized LOC107985635 Neighboring gene NANOG hESC enhancer GRCh37_chrX:82759704-82760205 Neighboring gene POMP pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29794 Neighboring gene TERF1 pseudogene 4

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary hearing loss and deafness not available
    X-linked mixed hearing loss with perilymphatic gusher
    MedGen: C1844678 OMIM: 304400 GeneReviews: Genetic Hearing Loss Overview
    not available

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cochlea morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of mesenchymal cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory perception of sound TAS
    Traceable Author Statement
    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
     

    General protein information

    Preferred Names
    POU domain, class 3, transcription factor 4
    Names
    brain-specific homeobox/POU domain protein 4
    octamer-binding transcription factor 9

    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_009936.2 RefSeqGene

      Range
      5001..6507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000307.5NP_000298.3  POU domain, class 3, transcription factor 4

      See identical proteins and their annotated locations for NP_000298.3

      Status: REVIEWED

      Source sequence(s)
      AK314967, X82324, Z82170
      Consensus CDS
      CCDS14450.1
      UniProtKB/Swiss-Prot
      B2RC71, P49335, Q5H9G9, Q99410
      UniProtKB/TrEMBL
      A0A2R8Y739
      Related
      ENSP00000495996.1, ENST00000644024.2
      Conserved Domains (2) summary
      smart00352
      Location:186260
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:281335
      Homeobox; Homeobox domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      83508290..83512127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      81941865..81945703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)