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

Gene ID: 5459, updated on 5-Mar-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
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Genomic context

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Location:
5q32
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (146338839..146341728)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (146874404..146877293)
105.20220307 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
  • 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. A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities. Bai D, et al. Biomed Res Int, 2021. PMID 34250087, Free PMC Article
  2. Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. Cui TY, et al. Neural Plast, 2020. PMID 32684921, Free PMC Article
  3. Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families. Bai X, et al. J Cell Mol Med, 2020 Jun. PMID 32390314, Free PMC Article
  4. A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family. Gao X, et al. Biomed Res Int, 2018. PMID 29850532, Free PMC Article
  5. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. Kitano T, et al. PLoS One, 2017. PMID 28545070, Free PMC Article

See all (43) 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
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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
part_of 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_2023_10

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

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