POU3F4 Gene

Aliases
for POU3F4 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC0XP078143 GC0XP079839 GC0XP080799 GC0XP081535 GC0XP082569 GC0XP076337

Summaries
for POU3F4 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for POU3F4 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000023.10  NC_018934.2  NT_011651.18  

SwitchGear Promoter luciferase reporter plasmid: POU3F4 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POU3F4

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


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP082763:  view genomic region     (about GC identifiers)

Proteins
for POU3F4 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for POU3F4: NX_P49335

Explore proteomics data for POU3F4 at MOPED

Post-translational modifications: 

POU3F4 Human Recombinant Protein Products:

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	antibodies-online peptides for POU3F4

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	antibodies-online kits for POU3F4 (6 products)

Domains /
Families
for POU3F4 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P49335

Find genes that share domains with POU3F4           About GenesLikeMe

Function
for POU3F4 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

(inferred from 4 alleles) (MGI details for Pou3f4)

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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F4

Localization
for POU3F4 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	5
cytosol	1
plasma membrane	1

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Gene Ontology (GO): 2 cellular component terms:    About this table

Pathways & Interactions
for POU3F4 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for POU3F4 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for POU3F4 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for POU3F4 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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POU3F4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ATCTCTGACT

About this image

Pancreas (Endocrine System)    fully expand to see all 4 entries
Alpha Progenitor Cells Dorsal Pancreatic Bud
Brain (Nervous System)    fully expand to see all 2 entries
Cerebellum
Oligodendrocyte progenitor cells
Neural Tube (Nervous System)    fully expand to see all 2 entries
Telencephalon
NULL (Uncategorized)
Neural rosettes
Spinal Cord (Nervous System)
Oligodendrocyte progenitor cells

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POU3F4

Orthologs
for POU3F4 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for POU3F4 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for POU3F4 gene

POU5F2²  POU6F2²  POU4F2²  POU2F3²  POU3F1²  POU1F1²  POU3F3²  POU4F3²  

POU3F2²  POU2F2²  POU5F1B²  POU4F1²  POU2F1²  POU6F1²  POU5F1²  

16 SIMAP similar genes for POU3F4 using alignment to 1 protein entry:     PO3F4_HUMAN:

OCT6    POU1F1    POU6F1    POU5F1    OCT-2    POU5F1P4

POU3F1    POU3F2    POU5F1B    POU5F1P1    POU2F1    POU2F3

POU3F3    POU4F3    POU5F2    POU2F2

Find genes that share paralogs with POU3F4           About GenesLikeMe

Genomic Variants
for POU3F4 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for POU3F4 (see all 84)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0037854		Deafness, X-linked, 2 (DFNX2)4	--	see VAR_003785	2	R S	mis4		0	--	--	--	--
VAR_0037864		Deafness, X-linked, 2 (DFNX2)4	--	see VAR_003786	2	K E	mis4		0	--	--	--	--
VAR_0037844		Deafness, X-linked, 2 (DFNX2)4	--	see VAR_003784	2	R G	mis4		0	--	--	--	--
VAR_0037834		Deafness, X-linked, 2 (DFNX2)4	--	see VAR_003783	2	L W	mis4		0	--	--	--	--
VAR_0037824		Deafness, X-linked, 2 (DFNX2)4	--	see VAR_003782	2	A V	mis4		0	--	--	--	--
rs1048949201,2	C	pathogenic1	82736820(+)	AATTCA/TAACAA	2	K *	stg1		0	--	--	--	--
rs1048949211,2	C	pathogenic1	82737165(+)	CCAGTG/TGGAGA	2	W L	mis1		0	--	--	--	--
rs1048949241,2	C	pathogenic1	82737182(+)	TGGTGC/GGTGTC	2	R G	mis1		0	--	--	--	--
rs1048949221,2	C	pathogenic1	82737215(+)	AAGAGA/GAAAGA	2	K E	mis1		0	--	--	--	--
rs1999821921,2		--	82734158(+)	GTAAA-/GGAATG	1	--	us2k1		0	--	--	--	--

HapMap Linkage Disequilibrium report for POU3F4 (82763269 - 82764775 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for POU3F4:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv510842	CNV	Loss	20534489

Human Gene Mutation Database (HGMD): POU3F4
Locus Specific Mutation Databases (LSDB): POU3F4

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing POU3F4

DNA2.0 Custom Variant and Variant Library Synthesis for POU3F4

Disorders / Diseases
for POU3F4 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The

disease is caused by mutations affecting the gene represented in this entry

10 diseases for POU3F4:    
About MalaCards

2 Novoseek inferred disease relationships for POU3F4 gene    About this table

Publications
for POU3F4 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for POU3F4 gene, integrated from 10 sources (see all 52): (articles sorted by number of sources associating them with POU3F4)

Utopia: connect your pdf to the dynamic world of online information

1. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. (PubMed id 7839145)^{1, 2, 4, 9} de Kok Y.J.M.... Cremers F.P.M. (Science 1995)
2. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X- linked deafness, DFN3. (PubMed id 7581392)^{1, 2, 3} Bitner-Glindzicz M.... Malcolm S. (Hum. Mol. Genet. 1995)
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. (PubMed id 9298820)^{1, 2, 9} de Kok Y.J.M.... Cremers F.P.M. (Hum. Mutat. 1997)
4. A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3). (PubMed id 9778298)^{1, 2, 9} Hagiwara H.... Kodera K. (Laryngoscope 1998)
5. The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (Nature 2005)
6. The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes. (PubMed id 7911044)^{1, 3} Douville P.J....Schwab M.E. (Mamm. Genome 1994)
7. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. (PubMed id 19671658)^{1, 9} Lee H.K....Kim U.K. (Physiol. Genomics 2009)
8. Phenotype and genotype in females with POU3F4 mutations. (PubMed id 19930154)^{1, 9} Marlin S....Toutain A. (Clin. Genet. 2009)
9. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. (PubMed id 19438930)^{1, 9} Lee H.K....Kim U.K. (Clin. Genet. 2009)
10. Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation. (PubMed id 23076972)¹ Choi B.Y....Park W.Y. (Hum. Mutat. 2013)

External Searches for POU3F4 gene

Genome Databases showing POU3F4 gene

Other Databases showing POU3F4 gene

Specialized Databases showing POU3F4 gene

Products
for POU3F4 gene

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Advanced Cell Diagnostics, Animal models from genOway)
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