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 Ref... See more...

Aliases for POU3F4 Gene

Aliases for POU3F4 Gene

  • POU Class 3 Homeobox 4 2 3 5
  • Octamer-Binding Transcription Factor 9 2 3 4
  • Brain-Specific Homeobox/POU Domain Protein 4 3 4
  • POU Domain, Class 3, Transcription Factor 4 3 4
  • Brain-4 2 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 3
  • BRN-4 3
  • DFNX2 3
  • OCT-9 3
  • Brn-4 4
  • Oct-9 4
  • 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 Choroideremia, Deafness, And Mental Retardation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and double-stranded DNA binding. An important paralog of this gene is POU3F2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for POU3F4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU3F4 Gene

Genomics for POU3F4 Gene

GeneHancer (GH) Regulatory Elements for POU3F4 Gene

Promoters and enhancers for POU3F4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ083508 Promoter/Enhancer 1.6 VISTA UCNEbase FANTOM5 Ensembl ENCODE 513.7 -1.3 -1254 11.6 CTCF RAD21 SRF EP300 TBP SP1 CTBP2 ZNF596 EZH2 SUZ12 POU3F4 ENSG00000279437 lnc-RPS6KA6-6 lnc-POU3F4-1 piR-38423-075
GH0XJ083495 Enhancer 0.6 UCNEbase Ensembl 0.4 -12.1 -12064 0.4 SMARCA4 POU3F4 piR-38423-075
GH0XJ083499 Enhancer 0.3 UCNEbase 0.4 -8.9 -8941 0.2 POU3F4 piR-38423-075
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU3F4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU3F4

Top Transcription factor binding sites by QIAGEN in the POU3F4 gene promoter:
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • E47
  • Gfi-1
  • HNF-1
  • HNF-1A
  • NF-Y
  • Sox5

Genomic Locations for POU3F4 Gene

Genomic Locations for POU3F4 Gene
chrX:83,508,261-83,512,127
(GRCh38/hg38)
Size:
3,867 bases
Orientation:
Plus strand
chrX:82,763,269-82,764,775
(GRCh37/hg19)
Size:
1,507 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:
    • Interacts with HNRNPU.

neXtProt entry for POU3F4 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU3F4 Gene

Suggested Antigen Peptide Sequences for POU3F4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95883, Homo sapiens POU domain, class 3, transcription factor 4 (POU3F4),mRNA (B2RC71_HUMAN)
  • Octamer-binding transcription factor 9 (PO3F4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49335

UniProtKB/Swiss-Prot:

PO3F4_HUMAN :
  • Belongs to the POU transcription factor family. Class-3 subfamily.
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

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.
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

Phenotypes From GWAS Catalog for POU3F4 Gene

Gene Ontology (GO) - Molecular Function for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003680 AT DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS,IEA 7839145
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

CRISPR Products

miRNA for POU3F4 Gene

miRTarBase miRNAs that target POU3F4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU3F4 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with POU3F4: view

Pathways & Interactions for POU3F4 Gene

PathCards logo

SuperPathways for POU3F4 Gene

No Data Available

Interacting Proteins for POU3F4 Gene

;

SIGNOR curated interactions for POU3F4 Gene

Activates:

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:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007420 brain development IEA --
GO:0007605 sensory perception of sound IEA,TAS 7839145
genes like me logo Genes that share ontologies with POU3F4: view

No data available for Pathways by source 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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU3F4

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

No ASD Table

Relevant External Links for POU3F4 Gene

GeneLoc Exon Structure for
POU3F4

Expression for POU3F4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for POU3F4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU3F4

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.

Evidence on tissue expression from TISSUES for POU3F4 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POU3F4 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with POU3F4: view

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
chimpanzee
(Pan troglodytes)
Mammalia POU3F4 31 30
  • 99.72 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POU3F4 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pou3f4 17 31 30
  • 91.97 (n)
dog
(Canis familiaris)
Mammalia POU3F4 31 30
  • 91.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou3f4 30
  • 91.51 (n)
cow
(Bos Taurus)
Mammalia POU3F4 31 30
  • 90.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 71 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pou3f4 30
  • 79.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia POU 30
zebrafish
(Danio rerio)
Actinopterygii pou3f1 31
  • 55 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta nub 32
  • 64 (a)
pdm2 32
  • 61 (a)
vvl 31 32
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-6 32
  • 74 (a)
Species where no ortholog for POU3F4 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POU3F4: view image

Paralogs for POU3F4 Gene

(16) SIMAP similar genes for POU3F4 Gene using alignment to 1 proteins:

  • PO3F4_HUMAN
genes like me logo Genes that share paralogs with POU3F4: view

Variants for POU3F4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU3F4 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
746751 Likely Benign: not provided 83,508,887(+) C/T MISSENSE_VARIANT
758704 Likely Benign: not provided 83,508,864(+) C/T SYNONYMOUS_VARIANT
811240 Benign: Deafness, X-linked 2 83,509,032(+) GGC/. NO_SEQUENCE_ALTERATION
811912 Likely Benign: Deafness, X-linked 2 83,508,348(+) C/T SYNONYMOUS_VARIANT
rs104894920 Pathogenic: Deafness, X-linked 2 83,508,928(+) A/T NONSENSE

Additional dbSNP identifiers (rs#s) for POU3F4 Gene

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

Variant ID Type Subtype PubMed ID
esv3448812 CNV insertion 20981092
nsv510842 CNV deletion 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)

Additional Variant Information for POU3F4 Gene

Human Gene Mutation Database (HGMD)
POU3F4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU3F4

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

Disorders for POU3F4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for POU3F4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, 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.

Additional Disease Information for 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 YJ … Cremers FP (Science (New York, N.Y.) 1995) 3 4 23 41 54
  2. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3). (PMID: 9778298) Hagiwara H … Kodera K (The Laryngoscope 1998) 3 4 23 54
  3. 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 YJ … Cremers FP (Human mutation 1997) 3 4 23 54
  4. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. (PMID: 7581392) Bitner-Glindzicz M … Pembrey M (Human molecular genetics 1995) 2 3 4 54
  5. Phenotype and genotype in females with POU3F4 mutations. (PMID: 19930154) Marlin S … Toutain A (Clinical genetics 2009) 3 23 54

Products for POU3F4 Gene

Sources for POU3F4 Gene