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POU4F3
Identifiers
Aliases	POU4F3, BRN3C, DFNA15, POU class 4 homeobox 3, DFNA42, DFNA52
External IDs	OMIM: 602460; MGI: 102523; HomoloGene: 2023; GeneCards: POU4F3; OMA:POU4F3 - orthologs
Gene location (Human) Chr. Chromosome 5 (human) Band 5q32 Start 146,338,839 bp End 146,341,728 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 B3|18 22.58 cM Start 42,527,604 bp End 42,530,314 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in smooth muscle tissue tibial arteries islet of Langerhans C1 segment Top expressed in lumbar spinal ganglion organ of Corti embryo vestibular sensory epithelium neural layer of retina otolith organ utricle saccule basal plate lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm nucleus cytoplasm Biological process regulation of transcription, DNA-templated hearing inner ear development visual perception transcription by RNA polymerase II transcription, DNA-templated cell differentiation positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II vestibulocochlear nerve development retinal ganglion cell axon guidance inner ear morphogenesis inner ear auditory receptor cell differentiation axon extension neuromuscular process controlling balance neuron apoptotic process inner ear receptor cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5459 18998 Ensembl ENSG00000091010 ENSMUSG00000024497 UniProt Q15319 Q63955 RefSeq (mRNA) NM_002700 NM_138945 RefSeq (protein) NP_002691 NP_620395 Location (UCSC) Chr 5: 146.34 – 146.34 Mb Chr 18: 42.53 – 42.53 Mb PubMed search
Wikidata
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POU domain, class 4, transcription factor 3 is a protein that in humans is encoded by the POU4F3 gene. It's a member of BRN-3 group, also known as POU family class 4.

Nomenclature

DFNA15 refers to a type of nonsyndromic deafness, with autosomal dominant inheritance.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000091010 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024497 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB (Apr 1998). "Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans". Science. 279 (5358): 1950–4. Bibcode:1998Sci...279.1950V. doi:10.1126/science.279.5358.1950. PMID 9506947. S2CID 25291858.
6. "Entrez Gene: POU4F3 POU domain, class 4, transcription factor 3".

Further reading

• Nolan LS, Jagutpal SS, Cadge BA, et al. (2017). "Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c". Gene. 400 (1–2): 89–97. doi:10.1016/j.gene.2007.05.023. PMID 17611044.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Clough RL, Sud R, Davis-Silberman N, et al. (2004). "Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity". Biochem. Biophys. Res. Commun. 324 (1): 372–81. doi:10.1016/j.bbrc.2004.09.074. PMID 15465029.
• Weiss S, Gottfried I, Mayrose I, et al. (2003). "The DFNA15 Deafness Mutation Affects POU4F3 Protein Stability, Localization, and Transcriptional Activity". Mol. Cell. Biol. 23 (22): 7957–64. doi:10.1128/MCB.23.22.7957-7964.2003. PMC 262385. PMID 14585957.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Leonard JH, Cook AL, Van Gele M, et al. (2002). "Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma". Int. J. Cancer. 101 (2): 103–10. doi:10.1002/ijc.10554. PMID 12209986. S2CID 20592545.
• Erkman L, McEvilly RJ, Luo L, et al. (1996). "Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development". Nature. 381 (6583): 603–6. Bibcode:1996Natur.381..603E. doi:10.1038/381603a0. PMID 8637595. S2CID 37343529.
• Xiang M, Zhou L, Macke JP, et al. (1995). "The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons". J. Neurosci. 15 (7 Pt 1): 4762–85. doi:10.1523/JNEUROSCI.15-07-04762.1995. PMC 6577904. PMID 7623109.

External links

• POU4F3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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