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 Deafness, Progressive, With Stapes Fixation. 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 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.
No data available for CIViC summary , 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 | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH0XG083510 | 1.8 | VISTA FANTOM5 | 13.8 | +3.5 | 3502 | 2.1 | CTCF JUND EZH2 | POU3F4 ENSG00000279437 LOC101060113 |
| GH0XG083508 | 0.2 | ENCODE | 0.7 | -0.1 | -93 | 0.1 | POU3F4 GC0XP083503 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around POU3F4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xq21.1 by Ensembl
- Xq21.1 by Entrez Gene
- Xq21.1 by HGNC
POU3F4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2RC71
- Q5H9G9
- Q99410
Protein attributes for POU3F4 Gene
- Size:
- 361 amino acids
- Molecular mass:
- 39427 Da
- Quaternary structure:
- No Data Available
Protein Expression for POU3F4 Gene
Post-translational modifications for POU3F4 Gene
Other Protein References for POU3F4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for POU3F4
- Novus Biologicals Antibodies for POU3F4
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- antibodies-online Antibodies for POU3F4: See all 8
- GeneTex POU3F4 antibody for POU3F4
Protein Products
-
OriGene Purified Proteins for POU3F4
- Search Origene for MassSpec and Protein Over-expression Lysates for POU3F4
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- antibodies-online Proteins for POU3F4: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for POU3F4
Assay Products
- antibodies-online Kits for POU3F4: See all 3
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
- 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.
| 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 | transcription factor activity, sequence-specific DNA binding | TAS,IEA | -- |
Phenotypes for POU3F4 Gene
- MGI mutant phenotypes for POU3F4:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for POU3F4:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for POU3F4 gene
-
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CRISPR Products
-
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-
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miRNA for POU3F4 Gene
- miRTarBase miRNAs that target POU3F4
miRNA Products
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Inhibitory RNA Products
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-
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- 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
Cell Line Products
-
Horizon Cell Lines for POU3F4
-
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-
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-
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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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for POU3F4 Gene
No Data Available
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 from RNA polymerase II promoter | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | 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
-
OriGene CRISPR knockouts for POU3F4
-
Applied Biological Materials CRISPR for POU3F4
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU3F4
- GenScript: Design CRISPR guide RNA sequences for POU3F4
miRNA Products
- Search ViGene Biosciences for POU3F4
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for POU3F4
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-
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Clone Products
-
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- VectorBuilder custom plasmid, inducible vectors for POU3F4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POU3F4
-
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
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
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:
POU3F4SOURCE GeneReport for Unigene cluster for POU3F4 Gene:
Hs.2229mRNA 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
Primer Products
-
OriGene qPCR primer pairs for POU3F4
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 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POU3F4 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pou3f4 34 16 35 |
|
||
| dog (Canis familiaris) |
Mammalia | POU3F4 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pou3f4 34 |
|
||
| cow (Bos Taurus) |
Mammalia | POU3F4 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pou3f4 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | POU 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pou3f1 35 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | vvl 36 35 |
|
||
| nub 36 |
|
|
|||
| pdm2 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | ceh-6 36 |
|
|
- 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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_003782 | Deafness, X-linked, 2 (DFNX2) [MIM:304400] | ||||
| VAR_003783 | Deafness, X-linked, 2 (DFNX2) [MIM:304400] | ||||
| VAR_003784 | Deafness, X-linked, 2 (DFNX2) [MIM:304400] | ||||
| VAR_003785 | Deafness, X-linked, 2 (DFNX2) [MIM:304400] | ||||
| VAR_003786 | Deafness, X-linked, 2 (DFNX2) [MIM:304400] |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3448812 | CNV | insertion | 20981092 |
| nsv510842 | CNV | deletion | 20534489 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F4 Gene
Disorders for POU3F4 Gene
(17) MalaCards diseases for POU3F4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, x-linked 2 |
|
|
| deafness, progressive, with stapes fixation |
|
|
| developmental delay-deafness syndrome, hildebrand type |
|
|
| nonsyndromic hearing loss and deafness |
|
|
| nonsyndromic deafness |
|
|
Search POU3F4 in MalaCards
View complete list of genes associated with diseases
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
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 Y.J.M. … Cremers F.P.M. (Science 1995) 3 4 22 46 64
- 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 22 64
- 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 22 64
- 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 64
- Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PMID: 19438930) Lee H.K. … Kim U.K. (Clin. Genet. 2009) 3 22 64
Products for POU3F4 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for POU3F4 gene
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- VectorBuilder custom plasmid, inducible vectors for POU3F4
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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
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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus Biologicals
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
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