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Aliases for POU4F3 Gene

Aliases for POU4F3 Gene

  • POU Class 4 Homeobox 3 2 3 5
  • Brain-Specific Homeobox/POU Domain Protein 3C 3 4
  • Deafness, Autosomal Dominant 42 2 3
  • Deafness, Autosomal Dominant 52 2 3
  • Brain-3C 3 4
  • Brn-3C 3 4
  • BRN3C 3 4
  • POU Domain, Class 4, Transcription Factor 3 3
  • POU Domain Class 4, Transcription Factor 3 2
  • DFNA52 3
  • DFNA42 3
  • DFNA15 3

External Ids for POU4F3 Gene

Previous HGNC Symbols for POU4F3 Gene

  • DFNA15
  • DFNA52
  • DFNA42

Previous GeneCards Identifiers for POU4F3 Gene

  • GC05P145687
  • GC05P146300
  • GC05P145747
  • GC05P145698
  • GC05P141099

Summaries for POU4F3 Gene

Entrez Gene Summary for POU4F3 Gene

  • 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]

GeneCards Summary for POU4F3 Gene

POU4F3 (POU Class 4 Homeobox 3) is a Protein Coding gene. Diseases associated with POU4F3 include Deafness, Autosomal Dominant 15 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is POU4F2.

UniProtKB/Swiss-Prot for POU4F3 Gene

  • Transcription factor. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear.

Gene Wiki entry for POU4F3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU4F3 Gene

Genomics for POU4F3 Gene

Regulatory Elements for POU4F3 Gene

Enhancers for POU4F3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F146428 1 FANTOM5 ENCODE 22.4 +90.0 89991 1.2 HIC1 PKNOX1 YY2 ZNF580 FEZF1 ZNF843 ZBTB20 POU4F3 ENSG00000250025 TCERG1 ENSG00000248842
GH05F146313 0.4 Ensembl 11.5 -25.7 -25724 0.2 POU4F3 GC05P146313 GC05M146317
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around POU4F3 on UCSC Golden Path with GeneCards custom track

Genomic Location for POU4F3 Gene

Chromosome:
5
Start:
146,339,024 bp from pter
End:
146,340,520 bp from pter
Size:
1,497 bases
Orientation:
Plus strand

Genomic View for POU4F3 Gene

Genes around POU4F3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU4F3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU4F3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU4F3 Gene

Proteins for POU4F3 Gene

  • Protein details for POU4F3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15319-PO4F3_HUMAN
    Recommended name:
    POU domain, class 4, transcription factor 3
    Protein Accession:
    Q15319
    Secondary Accessions:
    • O60557
    • Q2M3F8

    Protein attributes for POU4F3 Gene

    Size:
    338 amino acids
    Molecular mass:
    37052 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POU4F3 Gene

Post-translational modifications for POU4F3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU4F3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU4F3 Gene

Domains & Families for POU4F3 Gene

Suggested Antigen Peptide Sequences for POU4F3 Gene

Graphical View of Domain Structure for InterPro Entry

Q15319

UniProtKB/Swiss-Prot:

PO4F3_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the POU transcription factor family. Class-4 subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 POU-specific domain.
Family:
  • Belongs to the POU transcription factor family. Class-4 subfamily.
genes like me logo Genes that share domains with POU4F3: view

Function for POU4F3 Gene

Molecular function for POU4F3 Gene

GENATLAS Biochemistry:
POU domain,class 4,transcription factor 3,expressed in fetal cochlea
UniProtKB/Swiss-Prot Function:
Transcription factor. Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear.

Gene Ontology (GO) - Molecular Function for POU4F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 15465029
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 15465029
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IDA 23805044
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9506947
genes like me logo Genes that share ontologies with POU4F3: view
genes like me logo Genes that share phenotypes with POU4F3: view

Human Phenotype Ontology for POU4F3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POU4F3 Gene

MGI Knock Outs for POU4F3:

Animal Model Products

miRNA for POU4F3 Gene

miRTarBase miRNAs that target POU4F3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POU4F3 Gene

Localization for POU4F3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU4F3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POU4F3 Gene COMPARTMENTS Subcellular localization image for POU4F3 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for POU4F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with POU4F3: view

Pathways & Interactions for POU4F3 Gene

SuperPathways for POU4F3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POU4F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007601 visual perception TAS 7623109
GO:0007605 sensory perception of sound IEA,TAS --
genes like me logo Genes that share ontologies with POU4F3: view

No data available for Pathways by source and SIGNOR curated interactions for POU4F3 Gene

Transcripts for POU4F3 Gene

mRNA/cDNA for POU4F3 Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU4F3 Gene

No ASD Table

Relevant External Links for POU4F3 Gene

GeneLoc Exon Structure for
POU4F3
ECgene alternative splicing isoforms for
POU4F3

Expression for POU4F3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU4F3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POU4F3 Gene



NURSA nuclear receptor signaling pathways regulating expression of POU4F3 Gene:

POU4F3

SOURCE GeneReport for Unigene cluster for POU4F3 Gene:

Hs.553499

mRNA Expression by UniProt/SwissProt for POU4F3 Gene:

Q15319-PO4F3_HUMAN
Tissue specificity: Brain. Seems to be specific to the retina.
genes like me logo Genes that share expression patterns with POU4F3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners for POU4F3 Gene

Orthologs for POU4F3 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU4F3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POU4F3 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia POU4F3 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POU4F3 34 35
  • 93.89 (n)
cow
(Bos Taurus)
Mammalia POU4F3 34 35
  • 93 (n)
rat
(Rattus norvegicus)
Mammalia Pou4f3 34
  • 91.91 (n)
mouse
(Mus musculus)
Mammalia Pou4f3 34 16 35
  • 91.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
ManyToMany
chicken
(Gallus gallus)
Aves POU4F3 34
  • 72.67 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pou4f3 34
  • 78.54 (n)
Str.12826 34
zebrafish
(Danio rerio)
Actinopterygii pou4f3 34 35
  • 77.85 (n)
fruit fly
(Drosophila melanogaster)
Insecta acj6 36 34 35
  • 60.79 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002172 34
  • 57.2 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-86 36 35
  • 65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
Species where no ortholog for POU4F3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POU4F3 Gene

ENSEMBL:
Gene Tree for POU4F3 (if available)
TreeFam:
Gene Tree for POU4F3 (if available)

Paralogs for POU4F3 Gene

(18) SIMAP similar genes for POU4F3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with POU4F3: view

Variants for POU4F3 Gene

Sequence variations from dbSNP and Humsavar for POU4F3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121909056 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459], Pathogenic 146,340,292(+) GTTCA(C/T)TCGAG reference, missense
rs121909057 Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459], Pathogenic 146,340,095(+) CTCGC(C/T)GAGCC reference, missense
rs398123070 Pathogenic 146,340,404(+) CCAGA(A/G)ACAGA reference, missense
rs398124631 Pathogenic 146,340,307(+) ATTTC(-/GCTATCCA)GCCAC reference, frameshift-variant
rs759091617 Likely pathogenic 146,340,275(+) CGCGG(A/C)GCCGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for POU4F3 Gene

Variant ID Type Subtype PubMed ID
nsv1026614 CNV gain 25217958

Variation tolerance for POU4F3 Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU4F3 Gene

Human Gene Mutation Database (HGMD)
POU4F3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU4F3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU4F3 Gene

Disorders for POU4F3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for POU4F3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 15
  • autosomal dominant nonsyndromic deafness 15
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
dfna15 nonsyndromic hearing loss and deafness
  • dfna 15 nonsyndromic hearing loss and deafness
deafness, autosomal dominant 52
  • autosomal dominant nonsyndromic deafness 52
vestibular disease
  • vertigo, vestibular disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PO4F3_HUMAN
  • Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]: A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. {ECO:0000269 PubMed:18228599, ECO:0000269 PubMed:9506947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for POU4F3

Genetic Association Database (GAD)
POU4F3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU4F3
genes like me logo Genes that share disorders with POU4F3: view

No data available for Genatlas for POU4F3 Gene

Publications for POU4F3 Gene

  1. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. (PMID: 18228599) Collin R.W.J. … Kremer H. (Hum. Mutat. 2008) 3 4 22 64
  2. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. (PMID: 9506947) Vahava O. … Avraham K.B. (Science 1998) 2 3 4 64
  3. Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. (PMID: 27535032) Cai X.Z. … Hu Z.M. (J. Hum. Genet. 2016) 2 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. (PMID: 14585957) Weiss S. … Avraham K.B. (Mol. Cell. Biol. 2003) 3 22 64

Products for POU4F3 Gene

Sources for POU4F3 Gene

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