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

    Gene ID: 5459, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:9220
    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
    mouse all
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    Genomic context

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    See POU4F3 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (146338839..146341728)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146874404..146877293)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145718402..145721291)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81447 Neighboring gene leucyl-tRNA synthetase 1 Neighboring gene ribosomal protein L35a pseudogene 17 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81571 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81576 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81597 Neighboring gene MPRA-validated peak5520 silencer Neighboring gene MPRA-validated peak5521 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145562805-145563651 Neighboring gene Sharpr-MPRA regulatory region 14811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23360 Neighboring gene RBM27-POU4F3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23361 Neighboring gene Sharpr-MPRA regulatory region 15600 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81701 Neighboring gene RNA binding motif protein 27 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81715 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81725 Neighboring gene RNA, U7 small nuclear 180 pseudogene Neighboring gene MPRA-validated peak5522 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:145724002-145724515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145725029-145725541 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81810 Neighboring gene uncharacterized LOC105378213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81818 Neighboring gene Sharpr-MPRA regulatory region 15640 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_81828 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:145826559-145827266 Neighboring gene transcription elongation regulator 1 Neighboring gene MPRA-validated peak5524 silencer

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses. Singh S, et al. Eur J Hum Genet, 2023 Jul. PMID 37072551, Free PMC Article
    2. The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. Weiss S, et al. Mol Cell Biol, 2003 Nov. PMID 14585957, Free PMC Article
    3. Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c. Nolan LS, et al. Gene, 2007 Oct 1. PMID 17611044
    4. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Collin RW, et al. Hum Mutat, 2008 Apr. PMID 18228599, Free PMC Article
    5. Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus. Qiong P, et al. J Laryngol Otol, 2008 Oct. PMID 18312703

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.
      Title: Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.
    2. Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
      Title: Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
    3. A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
      Title: A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
    4. Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
      Title: Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
    5. Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
      Title: Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
    6. Findings expanded the mutation spectrum of POU4F3 and suggest the pathogenesis associated with aberrant POU4F3 localization.
      Title: A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
    7. POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss.
      Title: A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
    8. report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism
      Title: A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.
    9. DFNA52 were mapped between STR D5S2056 and D5S638 on chromosome, and analysis candidate genes in this region did not reveal any potentially pathogenic mutations segregating with congenital sensorineural hearing loss.
      Title: [Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
    10. Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans.
      Title: Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant nonsyndromic hearing loss 15
    MedGen: C1865366 OMIM: 602459 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-29)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-11-29)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough LOC127814297

    Readthrough gene: LOC127814297, Included gene: RBM27

    Homology

    Clone Names

    • MGC138412

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vestibulocochlear nerve development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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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_011885.1 RefSeqGene

      Range
      4816..7705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1355

    mRNA and Protein(s)

    1. NM_002700.3 → NP_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
      O60557, Q15319, Q2M3F8
      Related
      ENSP00000495718.1, ENST00000646991.2
      Conserved Domains (2) summary
      smart00352
      Location:179 → 256
      POU; Found in Pit-Oct-Unc transcription factors
      pfam00046
      Location:277 → 331
      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_000005.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      146874404..146877293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15319.1 GenPept UniProtKB/Swiss-Prot:Q15319

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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