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Aliases for POU3F4 Gene

Aliases for POU3F4 Gene

  • POU Class 3 Homeobox 4 2 3 5
  • 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
  • OTF-9 3 4
  • BRN4 3 4
  • OTF9 3 4
  • POU Domain Class 3, Transcription Factor 4 2
  • Octamer-Binding Protein 9 4
  • Brain-4 2
  • DFNX2 3
  • DFN3 3

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 Deafness Mixed With Perilymphatic Gusher, X-Linked. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and double-stranded 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

Enhancers for POU3F4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POU3F4 on UCSC Golden Path with GeneCards custom track

Genomic Location for POU3F4 Gene

Chromosome:
X
Start:
83,508,250 bp from pter
End:
83,512,127 bp from pter
Size:
3,878 bases
Orientation:
Plus strand

Genomic View for POU3F4 Gene

Genes around POU3F4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU3F4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:

No data available for DME Specific Peptides for POU3F4 Gene

Domains & Families for POU3F4 Gene

Gene Families for POU3F4 Gene

Protein Domains for POU3F4 Gene

Graphical View of Domain Structure for InterPro Entry

P49335

UniProtKB/Swiss-Prot:

PO3F4_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the POU transcription factor family. Class-3 subfamily.
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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003680 AT DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with POU3F4: view
genes like me logo Genes that share phenotypes with POU3F4: view

Human Phenotype Ontology for POU3F4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POU3F4 Gene

MGI Knock Outs for POU3F4:

Animal Model Products

miRNA for POU3F4 Gene

miRTarBase miRNAs that target POU3F4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for POU3F4 Gene

Pathways & Interactions for POU3F4 Gene

SuperPathways for POU3F4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0021879 forebrain neuron differentiation IEA --
GO:0048839 inner ear development IEA --
GO:0090103 cochlea morphogenesis IEA,ISS --
GO:2001054 negative regulation of mesenchymal cell apoptotic process IEA,ISS --
genes like me logo Genes that share ontologies with POU3F4: view

No data available for Pathways by source and SIGNOR curated interactions for POU3F4 Gene

Drugs & Compounds for POU3F4 Gene

No Compound Related Data Available

Transcripts for POU3F4 Gene

mRNA/cDNA for POU3F4 Gene

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

Unigene Clusters for POU3F4 Gene

POU class 3 homeobox 4:
Representative Sequences:

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) (x19.4), Brain - Caudate (basal ganglia) (x9.1), and Brain - Putamen (basal ganglia) (x7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POU3F4: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-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

(16) 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
VAR_003782 Deafness, X-linked, 2 (DFNX2)
VAR_003783 Deafness, X-linked, 2 (DFNX2)
VAR_003784 Deafness, X-linked, 2 (DFNX2)
VAR_003785 Deafness, X-linked, 2 (DFNX2)
VAR_003786 Deafness, X-linked, 2 (DFNX2)

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

Variant ID Type Subtype PubMed ID
nsv510842 CNV Loss 20534489

Variation tolerance for POU3F4 Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU3F4 Gene

Human Gene Mutation Database (HGMD)
POU3F4

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

Disorders for POU3F4 Gene

MalaCards: The human disease database

(17) MalaCards diseases for POU3F4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for POU3F4

Genetic Association Database (GAD)
POU3F4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PMID: 19438930) Lee H.K. … Kim U.K. (Clin. Genet. 2009) 3 23
  3. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. (PMID: 19671658) Lee H.K. … Kim U.K. (Physiol. Genomics 2009) 3 23
  4. Phenotype and genotype in females with POU3F4 mutations. (PMID: 19930154) Marlin S. … Toutain A. (Clin. Genet. 2009) 3 23
  5. 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 23

Products for POU3F4 Gene

Sources for POU3F4 Gene

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