Aliases for POU3F4 Gene
Aliases for POU3F4 Gene
External Ids for POU3F4 Gene
- HGNC: 9217
- Entrez Gene: 5456
- Ensembl: ENSG00000196767
- OMIM: 300039
- UniProtKB: P49335
Previous HGNC Symbols for POU3F4 Gene
- DFN3
Previous GeneCards Identifiers for POU3F4 Gene
- GC0XP078143
- GC0XP079839
- GC0XP080799
- GC0XP081535
- GC0XP082569
- GC0XP082763
- GC0XP076337
Summaries 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.
Additional gene information for POU3F4 Gene
- Monarch Initiative
- Search for POU3F4 at DataMed
- Search for POU3F4 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU3F4 Gene
Genomics for POU3F4 Gene
GeneHancer (GH) Regulatory Elements 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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- Xq21.1 by Ensembl
- Xq21.1 by Entrez Gene
- Xq21.1 by HGNC


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
- B2RC71
- Q5H9G9
- Q99410
Protein attributes for POU3F4 Gene
- Size:
- 361 amino acids
- Molecular mass:
- 39427 Da
- Quaternary structure:
-
- Interacts with HNRNPU.
Protein Expression for POU3F4 Gene
Post-translational modifications for POU3F4 Gene
Other Protein References for POU3F4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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Assay Products
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
P49335UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for POU3F4 Gene
- MGI mutant phenotypes for POU3F4:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for POU3F4:
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miRNA for POU3F4 Gene
- miRTarBase miRNAs that target POU3F4
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
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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.
- Nucleus (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IEA | -- |
GO:0005634 | nucleus | IDA,IEA | -- |
Pathways & Interactions for POU3F4 Gene
Interacting Proteins 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for POU3F4 Gene
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
CRISPR Products
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-
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available POU3F4 gene related products
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-
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Expression for POU3F4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Alpha Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Alpha Cells Islets of Langerhans
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
- Brain (Nervous System)
- Neural Tube (Nervous System)
- NULL (Uncategorized)
- Oligodendrocytes (Nervous System)
- Spinal Cord (Nervous System)
-
Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for POU3F4 Gene
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:
POU3F4SOURCE GeneReport for Unigene cluster for POU3F4 Gene:
Hs.2229mRNA Expression by UniProt/SwissProt for POU3F4 Gene:
P49335-PO3F4_HUMANEvidence 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
- ectoderm
- nervous
- skeleton
- brain
- cranial nerve
- ear
- head
- inner ear
- middle ear
- outer ear
- peripheral nervous system
Primer Products
-
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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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | POU3F4 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | POU3F4 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Pou3f4 33 16 34 |
|
||
dog (Canis familiaris) |
Mammalia | POU3F4 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pou3f4 33 |
|
||
cow (Bos Taurus) |
Mammalia | POU3F4 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | pou3f4 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | POU 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | pou3f1 34 |
|
ManyToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | vvl 35 34 |
|
||
nub 35 |
|
|
|||
pdm2 35 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | ceh-6 35 |
|
|
- 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)
Paralogs for POU3F4 Gene
Paralogs for POU3F4 Gene
(16) SIMAP similar genes for POU3F4 Gene using alignment to 1 proteins:
Variants 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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3448812 | CNV | insertion | 20981092 |
nsv510842 | CNV | deletion | 20534489 |
Additional Variant Information for POU3F4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F4 Gene
Disorders for POU3F4 Gene

(13) MalaCards diseases for POU3F4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, x-linked 2 |
|
|
developmental delay-deafness syndrome, hildebrand type |
|
|
non-syndromic genetic deafness |
|
|
nonsyndromic deafness |
|
|
hereditary hearing loss and deafness |
|
|
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
No data available for Genatlas for POU3F4 Gene
Publications for POU3F4 Gene
- 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
- 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
- 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
- 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
- Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PMID: 19438930) Lee HK … Kim UK (Clinical genetics 2009) 3 22 58
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- Bacterial expression: pET, pBAD, and pCS
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Sources for POU3F4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
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