Details for: POU4F3

Gene ID: 5459

Symbol: POU4F3

Ensembl ID: ENSG00000091010

Description: POU class 4 homeobox 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.6416
    Cell Significance Index: 20.5300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.5190
    Cell Significance Index: 7.5700
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.5163
    Cell Significance Index: 6.6700
  • Cell Name: Langerhans cell (CL0000453)
    Fold Change: 0.3954
    Cell Significance Index: 3.7700
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.2285
    Cell Significance Index: 2.8700
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.1344
    Cell Significance Index: 1.9100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.1118
    Cell Significance Index: 1.1700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.0793
    Cell Significance Index: 1.1000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.0755
    Cell Significance Index: 1.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0499
    Cell Significance Index: 2.3300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0494
    Cell Significance Index: 0.7500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.0459
    Cell Significance Index: 0.3900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0105
    Cell Significance Index: 0.6600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0090
    Cell Significance Index: 3.9800
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.0058
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0011
    Cell Significance Index: 0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0004
    Cell Significance Index: -0.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0006
    Cell Significance Index: -0.4700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0007
    Cell Significance Index: -0.5400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0007
    Cell Significance Index: -0.4200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0008
    Cell Significance Index: -0.5100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0010
    Cell Significance Index: -0.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0011
    Cell Significance Index: -0.4800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0017
    Cell Significance Index: -0.1900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0018
    Cell Significance Index: -0.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0023
    Cell Significance Index: -0.1300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0032
    Cell Significance Index: -0.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0035
    Cell Significance Index: -0.6900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0035
    Cell Significance Index: -0.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0037
    Cell Significance Index: -0.5400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0037
    Cell Significance Index: -0.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0040
    Cell Significance Index: -0.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0044
    Cell Significance Index: -0.2000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0044
    Cell Significance Index: -0.6000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0047
    Cell Significance Index: -0.3300
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0052
    Cell Significance Index: -0.0500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0069
    Cell Significance Index: -0.5500
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0085
    Cell Significance Index: -0.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0089
    Cell Significance Index: -0.6000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0092
    Cell Significance Index: -0.4600
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0115
    Cell Significance Index: -0.1400
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.0127
    Cell Significance Index: -0.1500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0129
    Cell Significance Index: -0.4100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0136
    Cell Significance Index: -0.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0140
    Cell Significance Index: -0.8600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0141
    Cell Significance Index: -0.4600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0148
    Cell Significance Index: -0.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0159
    Cell Significance Index: -0.7500
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0168
    Cell Significance Index: -0.2200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0176
    Cell Significance Index: -0.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0179
    Cell Significance Index: -0.7900
  • Cell Name: malignant cell (CL0001064)
    Fold Change: -0.0205
    Cell Significance Index: -0.1100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0210
    Cell Significance Index: -0.6000
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.0210
    Cell Significance Index: -0.2700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0214
    Cell Significance Index: -0.8100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0216
    Cell Significance Index: -0.5400
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0230
    Cell Significance Index: -0.1900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0230
    Cell Significance Index: -0.5800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0232
    Cell Significance Index: -0.6100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0239
    Cell Significance Index: -0.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0244
    Cell Significance Index: -0.5100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0248
    Cell Significance Index: -0.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0255
    Cell Significance Index: -0.9000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0257
    Cell Significance Index: -0.4300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0265
    Cell Significance Index: -0.7100
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.0265
    Cell Significance Index: -0.2900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0273
    Cell Significance Index: -0.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0274
    Cell Significance Index: -0.6000
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0276
    Cell Significance Index: -0.3500
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0278
    Cell Significance Index: -0.4500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0283
    Cell Significance Index: -0.7200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0288
    Cell Significance Index: -0.5700
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.0292
    Cell Significance Index: -0.3600
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0297
    Cell Significance Index: -0.5800
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.0298
    Cell Significance Index: -0.3100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0304
    Cell Significance Index: -0.6100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0306
    Cell Significance Index: -0.6500
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0307
    Cell Significance Index: -0.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0311
    Cell Significance Index: -0.9000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0319
    Cell Significance Index: -0.5900
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: -0.0349
    Cell Significance Index: -0.3600
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0352
    Cell Significance Index: -0.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0352
    Cell Significance Index: -0.9400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0357
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: -0.0365
    Cell Significance Index: -0.4600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0366
    Cell Significance Index: -1.0500
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.0383
    Cell Significance Index: -0.5100
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: -0.0384
    Cell Significance Index: -0.3000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0388
    Cell Significance Index: -0.6500
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: -0.0388
    Cell Significance Index: -0.4200
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.0392
    Cell Significance Index: -0.4100
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.0394
    Cell Significance Index: -0.4300
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.0396
    Cell Significance Index: -0.4100
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: -0.0396
    Cell Significance Index: -0.3800
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.0403
    Cell Significance Index: -0.5100
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0405
    Cell Significance Index: -0.5400
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.0406
    Cell Significance Index: -0.5000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0411
    Cell Significance Index: -0.3900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0411
    Cell Significance Index: -0.4800
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0417
    Cell Significance Index: -0.4400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** POU4F3 is a transcription factor that belongs to the POU family, which is characterized by the presence of a POU domain. This domain is a conserved sequence that allows the protein to bind to specific DNA sequences and regulate gene expression. POU4F3 is specifically classified as a class 4 homeobox transcription factor, which is distinct from other members of the POU family. The gene is encoded by a single exon and spans approximately 12 kilobases, with a relatively low expression level in most tissues. **Pathways and Functions:** POU4F3 is involved in a wide range of cellular processes and developmental pathways, including: 1. **Neurogenesis and Neuronal Differentiation**: POU4F3 is expressed in neural stem cells and plays a crucial role in the differentiation of neurons, particularly in the development of auditory and visual systems. 2. **Inner Ear Morphogenesis**: POU4F3 is involved in the development of the inner ear, particularly in the differentiation of auditory receptor cells and the morphogenesis of the vestibular system. 3. **Regulation of Transcription**: POU4F3 acts as a transcriptional activator, regulating the expression of genes involved in various cellular processes, including cell proliferation, differentiation, and survival. 4. **Cellular Differentiation and Proliferation**: POU4F3 is involved in the regulation of cellular differentiation and proliferation in various cell types, including neurons, endothelial cells, and epithelial cells. **Clinical Significance:** POU4F3 has been implicated in several neurological and developmental disorders, including: 1. **Inner Ear Defects**: Mutations in the POU4F3 gene have been associated with inner ear defects, including sensorineural hearing loss and vestibular dysfunction. 2. **Neurodevelopmental Disorders**: POU4F3 has been implicated in various neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability. 3. **Cancer**: POU4F3 has been shown to be overexpressed in certain types of cancer, including glioblastoma and breast cancer, suggesting its potential role in tumorigenesis. In conclusion, POU4F3 is a multifunctional transcription factor that plays a critical role in various cellular processes and developmental pathways. Its involvement in neurological and developmental disorders highlights the importance of understanding the mechanisms of POU4F3 in maintaining tissue homeostasis and normal development. Further research is needed to elucidate the molecular mechanisms underlying the functions of POU4F3 and to explore its potential therapeutic applications.

Genular Protein ID: 83629094

Symbol: PO4F3_HUMAN

Name: POU domain, class 4, transcription factor 3

UniProtKB Accession Codes:

Q15319 O60557 Q2M3F8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 GO 20 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7623109

Title: The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons.

PubMed ID: 7623109

DOI: 10.1523/jneurosci.15-07-04762.1995

PubMed ID: 9506947

Title: Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

PubMed ID: 9506947

DOI: 10.1126/science.279.5358.1950

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18347256

Title: Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

PubMed ID: 18347256

DOI: 10.1001/archotol.134.3.294

PubMed ID: 18228599

Title: Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

PubMed ID: 18228599

DOI: 10.1002/humu.20693

PubMed ID: 22938506

Title: Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

PubMed ID: 22938506

DOI: 10.1186/1750-1172-7-60

PubMed ID: 24260153

Title: SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

PubMed ID: 24260153

DOI: 10.1371/journal.pone.0079063

PubMed ID: 25388789

Title: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PubMed ID: 25388789

DOI: 10.1186/s12967-014-0311-1

PubMed ID: 28545070

Title: POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

PubMed ID: 28545070

DOI: 10.1371/journal.pone.0177636

PubMed ID: 28790396

Title: A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.

PubMed ID: 28790396

DOI: 10.1038/s41598-017-08236-y

Sequence Information:

  • Length: 338
  • Mass: 37052
  • Checksum: E2D2EEB25B299A5C
  • Sequence:
    • MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD ESLLARAEAL 
AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP AALTSHPHHA VHQGLEGDLL 
EHISPTLSVS GLGAPEHSVM PAQIHPHHLG AMGHLHQAMG MSHPHTVAPH SAMPACLSDV 
ESDPRELEAF AERFKQRRIK LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN 
MIALKPVLQA WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS 
SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.