• Gene id: 5456

Gene Summary

• Gene Symbol: POU3F4   Gene   UCSC   Ensembl
• Aliases: BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9
• Gene name: POU class 3 homeobox 4
• Alternate names: POU domain, class 3, transcription factor 4, brain-specific homeobox/POU domain protein 4, octamer-binding transcription factor 9,
• Gene location: Xq21.1 (83508289: 83512126)     Exons: 1     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 605992

Protein Summary

• Protein general information: P49335  
  • Name: POU domain, class 3, transcription factor 4 (Brain specific homeobox/POU domain protein 4) (Brain 4) (Brn 4) (Octamer binding protein 9) (Oct 9) (Octamer binding transcription factor 9) (OTF 9)
  • Length: 361  
  • Mass: 39427
  • Tissue specificity: Brain specific.
• Sequence:

  MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTSLSDGGPWSSTLATSP
  LDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAPNPSITSSGQPLNVYSQPGFTVSGMLEHGGL
  TPPPAAASAQSLHPVLREPPDHGELGSHHCQDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGN
  VFSQTTICRFEGLQLSFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKC
  PKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHDL

• Structural information:
  • Protein Domains: (186..26-)
    (/note="POU-specific-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00530"-)
  • Interpro: IPR009057  IPR017970  IPR001356  IPR010982  IPR013847   IPR000327  IPR016362  
  • Prosite: PS00027 PS50071 PS00035 PS00465 PS51179
  • CDD: cd00086
  • STRING: ENSP00000362296
• Other Databases: GeneCards:  POU3F4  Malacards:  POU3F4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	ISS	biological process

Diseases

Associated diseases	References
Deafness, X-linked	KEGG:H01209
Deafness, X-linked	KEGG:H01209
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray