Format

Send to:

Choose Destination
    • Showing Current items.

    POU4F3 POU class 4 homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 5459, updated on 17-Jun-2019

    Summary

    Official Symbol
    POU4F3provided by HGNC
    Official Full Name
    POU class 4 homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:9220
    See related
    Ensembl:ENSG00000091010 MIM:602460
    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
    BRN3C; DFNA15; DFNA42; DFNA52
    Summary
    This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See POU4F3 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (146338839..146341728)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145718587..145720083)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35a pseudogene 17 Neighboring gene leucyl-tRNA synthetase Neighboring gene RNA binding motif protein 27 Neighboring gene RNA, U7 small nuclear 180 pseudogene Neighboring gene uncharacterized LOC105378213 Neighboring gene transcription elongation regulator 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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138412

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    vestibulocochlear nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    POU domain, class 4, transcription factor 3
    Names
    brain-3C
    brain-specific homeobox/POU domain protein 3C
    brn-3C
    deafness, autosomal dominant 42

    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_011885.1 RefSeqGene

      Range
      4816..7705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002700.3NP_002691.1  POU domain, class 4, transcription factor 3

      See identical proteins and their annotated locations for NP_002691.1

      Status: REVIEWED

      Source sequence(s)
      AC011396
      Consensus CDS
      CCDS4281.1
      UniProtKB/Swiss-Prot
      Q15319
      Related
      ENSP00000495718.1, ENST00000646991.2
      Conserved Domains (2) summary
      smart00352
      Location:179256
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:277330
      Homeobox; Homeobox domain

    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_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      146338839..146341728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center