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POU3F4 Gene(Protein Coding)

POU Class 3 Homeobox 4

GCID:
GC0XP083508
GIFtS:
50
Genes Participants
UDN Logo

Aliases for POU3F4 Gene

Aliases for POU3F4 Gene

  • POU Class 3 Homeobox 4 2 3 5
  • Brain-4 2 3 4
  • Brain-Specific Homeobox/POU Domain Protein 4 3 4
  • Octamer-Binding Transcription Factor 9 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 3
  • POU Domain Class 3, Transcription Factor 4 2
  • Octamer-Binding Protein 9 4
  • 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 Developmental Delay-Deafness Syndrome, Hildebrand Type. 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 POU3F3.

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

Additional gene information for POU3F4 Gene

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

Genomics for POU3F4 Gene

Products:

  1. Regulatory Element

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
GH0XI083509 Promoter 0.6 EPDnew 550.8 +0.0 24 0.1 SP1 POU3F4 ENSG00000279437
GH0XI083508 Enhancer 0.3 ENCODE 550.8 -0.1 -92 0.1 SP1 ENSG00000279437 POU3F4 GC0XP083503
GH0XI083510 Enhancer 0.9 VISTA UCNEbase FANTOM5 13.8 +3.5 3502 2.1 CTCF POU3F4 ENSG00000279437 LOC101060113
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POU3F4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU3F4 gene promoter:

Genomic Locations for POU3F4 Gene

Genomic Locations for POU3F4 Gene
chrX:83,508,250-83,512,127
(GRCh38/hg38)
Size:
3,878 bases
Orientation:
Plus strand
chrX:82,763,269-82,764,775
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for POU3F4 Gene

Proteins for POU3F4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for POU3F4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU3F4 Gene

No Post-translational modifications

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POU3F4 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for POU3F4 Gene

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:0003690 double-stranded DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,TAS --
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

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

Nucleus.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POU3F4 Gene

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

Pathways & Interactions for POU3F4 Gene

SuperPathways for POU3F4 Gene

PathCards logo More details on SuperPathways for POU3F4
No Data Available

Gene Ontology (GO) - Biological Process for POU3F4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
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 --
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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for POU3F4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for POU3F4 Gene
mRNA expression by GTEx for POU3F4 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for POU3F4 Gene



NURSA nuclear receptor signaling pathways regulating expression of POU3F4 Gene:

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
 Mammalia POU3F4 33 34
  • 99.72 (n)
oppossum
(Monodelphis domestica)
 Mammalia POU3F4 34
  • 93 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pou3f4 33 16 34
  • 91.97 (n)
dog
(Canis familiaris)
 Mammalia POU3F4 33 34
  • 91.87 (n)
rat
(Rattus norvegicus)
 Mammalia Pou3f4 33
  • 91.51 (n)
cow
(Bos Taurus)
 Mammalia POU3F4 33 34
  • 90.67 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 76 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 71 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia pou3f4 33
  • 79.17 (n)
African clawed frog
(Xenopus laevis)
 Amphibia POU 33
zebrafish
(Danio rerio)
 Actinopterygii pou3f1 34
  • 55 (a)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta vvl 35 34
  • 80 (a)
nub 35
  • 64 (a)
pdm2 35
  • 61 (a)
worm
(Caenorhabditis elegans)
 Secernentea ceh-6 35
  • 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)

Paralogs for POU3F4 Gene

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 Variation AA Info Type
rs104894920 pathogenic, Deafness, X-linked 2 83,508,928(+) A/T coding_sequence_variant, stop_gained
rs104894921 pathogenic, Deafness, X-linked 2 83,509,274(+) T/G coding_sequence_variant, missense_variant
rs104894922 pathogenic, Deafness, X-linked 2 83,509,324(+) A/G coding_sequence_variant, missense_variant
rs104894923 pathogenic, Deafness, X-linked 2 83,509,314(+) A/T coding_sequence_variant, missense_variant
rs104894924 pathogenic, uncertain-significance, Deafness, X-linked 2, not specified 83,509,291(+) C/G/T coding_sequence_variant, missense_variant

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

(13) MalaCards diseases for POU3F4 Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for POU3F4

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 44 58
  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 22 58
  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 22 58
  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 58
  5. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PMID: 19438930) Lee HK … Kim UK (Clinical genetics 2009) 3 22 58

Products for POU3F4 Gene

Sources for POU3F4 Gene

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