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POU3F4

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
POU3F4
Identifiers
AliasesPOU3F4, BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9, POU class 3 homeobox 4
External IDsOMIM:300039;MGI:101894;HomoloGene:260;GeneCards:POU3F4;OMA:POU3F4 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for POU3F4
Genomic location for POU3F4
BandXq21.1Start83,508,290bp[1]
End83,512,127bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for POU3F4
Genomic location for POU3F4
BandX E1|X 48.2 cMStart109,857,886bp[2]
End109,860,813bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ganglionic eminence

  • ventricular zone

  • nucleus accumbens

  • caudate nucleus

  • putamen

  • cingulate gyrus

  • Amygdala

  • anterior cingulate cortex

  • prefrontal cortex

  • Hypothalamus
Top expressed in
  • Rostral migratory stream

  • medial ganglionic eminence

  • vestibular sensory epithelium

  • utricle

  • stria vascularis

  • vestibular membrane of cochlear duct

  • lumbar subsegment of spinal cord

  • hair

  • ventricular zone

  • cochlea
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5456

18994

Ensembl

ENSG00000196767

ENSMUSG00000056854

UniProt

P49335

P62515

RefSeq (mRNA)

NM_000307

NM_008901

RefSeq (protein)

NP_000298

NP_032927

Location (UCSC)Chr X: 83.51 – 83.51 MbChr X: 109.86 – 109.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

POU domain, class 3, transcription factor 4 is aprotein that in humans is encoded by thePOU3F4gene found on theX chromosome.[5][6][7]

POU3F4 is involved in the patterning of theneural tube and both theparaventricular andsupraoptic nuclei of thehypothalamus in the developing embryo.[8] During development, POU3F4 is also expressed in themesenchyme of theperiotic bone surrounding theinner ear.[9] A“knockout” mice model displayed that alteration to the POU3F4 gene interrupted this mesenchymal cell differentiation in the superiorsemicircular canal. The deformities observed in mice were similar to those in humans with X-linked non-syndromic deafness (DFN-3).[10]

Clinical significance

[edit]

Genetic testing on various persons has confirmed that mutations of the POU3F4 gene cause X-linkednon-syndromic deafness (DFN-3).[11] These known mutations include:

  • Missense mutation causing the substitution of amino acidglycine forglutamic acid at position 216[12]
  • A deletion of the POU3F4 gene and 530 more kilobases upstream[13]
  • An amino acid substitution of serine forleucine (S228L) in POU3F4[13]
  • Frameshift truncation and extension mutations at the POU3F4 C-terminus[14]

Physical anomalies caused by POU3F4 mutations that have been recognized byhigh resolution computed tomography (HRCT) andmagnetic resonance imaging (MRI) include absence of the central axis of thecochlea, an abnormally wide lateral internalauditory canal and a thickened stapes footplate. These anomalies are associated with X-linkednon-syndromic deafness.[15]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000196767 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000056854 –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. ^Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME (Mar 1994). "The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes".Mammalian Genome.5 (3):180–2.doi:10.1007/BF00352353.PMID 7911044.S2CID 22846323.
  6. ^Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M (Aug 1995). "Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3".Human Molecular Genetics.4 (8):1467–9.doi:10.1093/hmg/4.8.1467.hdl:2066/22078.PMID 7581392.
  7. ^"Entrez Gene: POU3F4 POU domain, class 3, transcription factor 4".
  8. ^Mathis JM, Simmons DM, He X, Swanson LW, Rosenfeld MG (1992)."Brain 4: a novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression".The EMBO Journal.11 (7):2551–2561.doi:10.1002/j.1460-2075.1992.tb05320.x.PMC 556730.PMID 1628619.
  9. ^Phippard D, Heydemann A, Lechner M, Lu L, Lee D, Kyin T, Crenshaw EB (1998)."3rd Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule".Hear. Res.120 (1–2):77–85.doi:10.1016/s0378-5955(98)00059-8.PMID 9667433.S2CID 41009921.
  10. ^Sobol SE, Teng X, Crenshaw E, III. Abnormal Mesenchymal Differentiation in the Superior Semicircular Canal of Brn4/Pou3f4 Knockout Mice. Arch Otolaryngol Head Neck Surg. 2005;131(1):41-45.
  11. ^de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP (Feb 1995). "Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4".Science.267 (5198):685–8.Bibcode:1995Sci...267..685D.doi:10.1126/science.7839145.hdl:2066/21211.PMID 7839145.S2CID 10519322.
  12. ^Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H (Dec 2010). "Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss".Journal of Genetics and Genomics = Yi Chuan Xue Bao.37 (12):787–93.doi:10.1016/S1673-8527(09)60096-5.PMID 21193157.
  13. ^abVore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith LL, Burke DW, Campbell CA, Smith RJ (Dec 2005)."Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness".Archives of Otolaryngology–Head & Neck Surgery.131 (12):1057–63.doi:10.1001/archotol.131.12.1057.PMC 6775642.PMID 16365218.
  14. ^Choi BY, Kim DH, Chung T, Chang M, Kim EH, Kim AR, Seok J, Chang SO, Bok J, Kim D, Oh SH, Park WY (Feb 2013)."Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation".Human Mutation.34 (2):309–16.doi:10.1002/humu.22232.PMID 23076972.S2CID 23146821.
  15. ^Gong WX, Gong RZ, Zhao B (Oct 2014). "HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation".International Journal of Pediatric Otorhinolaryngology.78 (10):1756–62.doi:10.1016/j.ijporl.2014.08.013.PMID 25175280.

Further reading

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External links

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This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous


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