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Aliases for POU3F4 Gene

Aliases for POU3F4 Gene

  • POU Class 3 Homeobox 4 2 3
  • Brain-Specific Homeobox/POU Domain Protein 4 3 4
  • Octamer-Binding Transcription Factor 9 3 4
  • BRAIN-4 3 4
  • BRN-4 3 4
  • OCT-9 3 4
  • DFNX2 3 6
  • OTF-9 3 4
  • DFN3 3 6
  • BRN4 3 4
  • OTF9 3 4
  • POU Domain, Class 3, Transcription Factor 4 3
  • POU Domain Class 3, Transcription Factor 4 2
  • Octamer-Binding Protein 9 4
  • Brain-4 2

External Ids for POU3F4 Gene

Previous HGNC Symbols for POU3F4 Gene

  • DFN3

Previous GeneCards Identifiers for POU3F4 Gene

  • GC0XP078143
  • GC0XP079839
  • GC0XP080799
  • GC0XP081535
  • GC0XP082569
  • GC0XP082763
  • GC0XP076337

Summaries for POU3F4 Gene

Entrez Gene Summary for POU3F4 Gene

  • 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]

GeneCards Summary for POU3F4 Gene

POU3F4 (POU Class 3 Homeobox 4) is a Protein Coding gene. Diseases associated with POU3F4 include deafness, x-linked 2 and dfnx2 nonsyndromic hearing loss and deafness. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and AT DNA binding. An important paralog of this gene is POU6F1.

UniProtKB/Swiss-Prot for POU3F4 Gene

  • Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain

Gene Wiki entry for POU3F4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU3F4 Gene

Genomics for POU3F4 Gene

Regulatory Elements for POU3F4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POU3F4 Gene

Start:
83,508,250 bp from pter
End:
83,509,767 bp from pter
Size:
1,518 bases
Orientation:
Plus strand

Genomic View for POU3F4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POU3F4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU3F4 Gene

Proteins for POU3F4 Gene

  • Protein details for POU3F4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49335-PO3F4_HUMAN
    Recommended name:
    POU domain, class 3, transcription factor 4
    Protein Accession:
    P49335
    Secondary Accessions:
    • B2RC71
    • Q5H9G9
    • Q99410

    Protein attributes for POU3F4 Gene

    Size:
    361 amino acids
    Molecular mass:
    39427 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POU3F4 Gene

Proteomics data for POU3F4 Gene at MOPED

Post-translational modifications for POU3F4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU3F4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for POU3F4 Gene

Domains for POU3F4 Gene

Gene Families for POU3F4 Gene

HGNC:
  • POU :Homeoboxes / POU class

Protein Domains for POU3F4 Gene

Graphical View of Domain Structure for InterPro Entry

P49335

UniProtKB/Swiss-Prot:

PO3F4_HUMAN :
  • P49335
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 POU-specific domain.
Family:
  • Belongs to the POU transcription factor family. Class-3 subfamily.
genes like me logo Genes that share domains with POU3F4: view

Function for POU3F4 Gene

Molecular function for POU3F4 Gene

GENATLAS Biochemistry:
murine Brn4 (sex-linked fidget phenotype) ortholog,POU domain,class 3,transcription factor 4,mammalian homeo box backfoot,Drosophila bicoid related,expressed in Rathke pouch,at an early stage of pituitary development and in a subset of adult anterior pituitary cells that express POMC,involved in mesenchymal-mesenchymal signaling for the development of inner ear
UniProtKB/Swiss-Prot Function:
Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain

Gene Ontology (GO) - Molecular Function for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003680 AT DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0043565 sequence-specific DNA binding --
genes like me logo Genes that share ontologies with POU3F4: view
genes like me logo Genes that share phenotypes with POU3F4: view

Animal Models for POU3F4 Gene

MGI Knock Outs for POU3F4:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POU3F4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for POU3F4 Gene

Localization for POU3F4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU3F4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POU3F4 Gene COMPARTMENTS Subcellular localization image for POU3F4 gene
Compartment Confidence
nucleus 5
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with POU3F4: view

Pathways for POU3F4 Gene

SuperPathways for POU3F4 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Homeobox (HOX) Genes in human,mouse,rat
    • Terminal Differentiation Markers in human,mouse,rat

Gene Ontology (GO) - Biological Process for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007605 sensory perception of sound IEA --
GO:0021879 forebrain neuron differentiation IEA --
genes like me logo Genes that share ontologies with POU3F4: view

No data available for Pathways by source for POU3F4 Gene

Transcripts for POU3F4 Gene

mRNA/cDNA for POU3F4 Gene

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

Unigene Clusters for POU3F4 Gene

POU class 3 homeobox 4:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POU3F4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU3F4 Gene

No ASD Table

Relevant External Links for POU3F4 Gene

GeneLoc Exon Structure for
POU3F4
ECgene alternative splicing isoforms for
POU3F4

Expression for POU3F4 Gene

mRNA expression in normal human tissues for POU3F4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU3F4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (19.4), Brain - Caudate (basal ganglia) (9.1), and Brain - Putamen (basal ganglia) (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POU3F4 Gene

SOURCE GeneReport for Unigene cluster for POU3F4 Gene Hs.2229

mRNA Expression by UniProt/SwissProt for POU3F4 Gene

P49335-PO3F4_HUMAN
Tissue specificity: Brain specific
genes like me logo Genes that share expressions with POU3F4: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Expression partners for POU3F4 Gene

Orthologs for POU3F4 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU3F4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POU3F4 35
  • 90.67 (n)
  • 96.95 (a)
POU3F4 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POU3F4 35
  • 91.87 (n)
  • 96.95 (a)
POU3F4 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pou3f4 35
  • 91.97 (n)
  • 98.89 (a)
Pou3f4 16
Pou3f4 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POU3F4 35
  • 99.72 (n)
  • 100 (a)
POU3F4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou3f4 35
  • 91.51 (n)
  • 98.89 (a)
oppossum
(Monodelphis domestica)
Mammalia POU3F4 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pou3f4 35
  • 79.17 (n)
  • 91.67 (a)
African clawed frog
(Xenopus laevis)
Amphibia POU 35
zebrafish
(Danio rerio)
Actinopterygii pou3f1 36
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta nub 37
  • 64 (a)
pdm2 37
  • 61 (a)
vvl 37
  • 80 (a)
vvl 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-6 37
  • 74 (a)
Species with no ortholog for POU3F4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 POU3F4 Gene

ENSEMBL:
Gene Tree for POU3F4 (if available)
TreeFam:
Gene Tree for POU3F4 (if available)

Paralogs for POU3F4 Gene

Selected SIMAP similar genes for POU3F4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with POU3F4: view

Variants for POU3F4 Gene

Sequence variations from dbSNP and Humsavar for POU3F4 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1042659 -- 83,509,144(+) TCGCT(A/G)CACAG missense, reference
rs5921978 Benign 83,509,032(+) TTCGA(A/G)GGCTT synonymous-codon, reference
rs5921979 Benign, - 83,509,034(+) CGAAG(C/G)CTTGC reference, missense
rs7057832 -- 83,506,325(+) agaaa(A/G)agaga upstream-variant-2KB
rs7059360 -- 83,506,323(+) agaga(A/G)agaga upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for POU3F4 Gene

Variant ID Type Subtype PubMed ID
nsv510842 CNV Loss 20534489

Relevant External Links for POU3F4 Gene

HapMap Linkage Disequilibrium report
POU3F4
Human Gene Mutation Database (HGMD)
POU3F4
Locus Specific Mutation Databases (LSDB)
POU3F4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F4 Gene

Disorders for POU3F4 Gene

(1) OMIM Diseases for POU3F4 Gene (300039)

UniProtKB/Swiss-Prot

PO3F4_HUMAN
  • Deafness, X-linked, 2 (DFNX2) [MIM:304400]: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness. {ECO:0000269 PubMed:7581392, ECO:0000269 PubMed:7839145, ECO:0000269 PubMed:9298820, ECO:0000269 PubMed:9778298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for POU3F4 Gene

(2) Novoseek inferred disease relationships for POU3F4 Gene

Disease -log(P) Hits PubMed IDs
hearing loss sensorineural 55 1
chromosomal aberrations 17.3 1

Relevant External Links for POU3F4

Genetic Association Database (GAD)
POU3F4
genes like me logo Genes that share disorders with POU3F4: view

No data available for Genatlas for POU3F4 Gene

Publications for POU3F4 Gene

  1. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. (PMID: 7839145) de Kok Y.J.M. … Cremers F.P.M. (Science 1995) 3 4 23 48
  2. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. (PMID: 9298820) de Kok Y.J.M. … Cremers F.P.M. (Hum. Mutat. 1997) 3 4 23
  3. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3). (PMID: 9778298) Hagiwara H. … Kodera K. (Laryngoscope 1998) 3 4 23
  4. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X- linked deafness, DFN3. (PMID: 7581392) Bitner-Glindzicz M. … Malcolm S. (Hum. Mol. Genet. 1995) 2 3 4
  5. The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes. (PMID: 7911044) Douville P.J. … Schwab M.E. (Mamm. Genome 1994) 2 3

Products for POU3F4 Gene

Sources for POU3F4 Gene

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