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POU2F3 POU class 2 homeobox 3 [ Homo sapiens (human) ]

Gene ID: 25833, updated on 5-Mar-2024

Summary

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Official Symbol
POU2F3provided by HGNC
Official Full Name
POU class 2 homeobox 3provided by HGNC
Primary source
HGNC:HGNC:19864
See related
Ensembl:ENSG00000137709 MIM:607394; AllianceGenome:HGNC:19864
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLA1; OCT11; PLA-1; Epoc-1; OCT-11; OTF-11; Skn-1a
Summary
This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Expression
Biased expression in skin (RPKM 16.5) and lung (RPKM 0.4) See more
Orthologs
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Genomic context

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See POU2F3 in Genome Data Viewer
Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120236638..120319945)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120259430..120342742)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120107347..120190654)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120067578-120068078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120068079-120068579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120080493-120081034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120088347-120088930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120091419-120091918 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120105831-120106053 Neighboring gene out at first homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:120119877-120120516 Neighboring gene Sharpr-MPRA regulatory region 564 Neighboring gene uncharacterized LOC649133 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120135803-120135974 Neighboring gene uncharacterized LOC105369531 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120146894-120147083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120176405-120176922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120177487-120177989 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120184592 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120193421-120193580 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120195689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3991 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120224214-120224428 Neighboring gene Rho guanine nucleotide exchange factor 12 Neighboring gene TLC domain containing 5 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120249395 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120288060 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120305787 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120306759 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120313899 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120345004 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120350393 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:120356317

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. An integrated multiomics analysis of rectal cancer patients identified POU2F3 as a putative druggable target and entinostat as a cytotoxic enhancer of 5-fluorouracil. D'Angelo E, et al. Int J Cancer, 2023 Jul 15. PMID 36815540
  2. POU2F3 in SCLC: Clinicopathologic and Genomic Analysis With a Focus on Its Diagnostic Utility in Neuroendocrine-Low SCLC. Baine MK, et al. J Thorac Oncol, 2022 Sep. PMID 35760287, Free PMC Article
  3. POU2F3 beyond thymic carcinomas: expression across the spectrum of thymomas hints to medullary differentiation in type A thymoma. Yamada Y, et al. Virchows Arch, 2022 Apr. PMID 34988657
  4. POU2F3 is a master regulator of a tuft cell-like variant of small cell lung cancer. Huang YH, et al. Genes Dev, 2018 Jul 1. PMID 29945888, Free PMC Article
  5. Functional analysis of the nuclear localization signal of the POU transcription factor Skn‑1a in epidermal keratinocytes. Moritsugu R, et al. Int J Mol Med, 2014 Aug. PMID 24954220

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. POU2F3-Expressing Small Cell Lung Carcinoma and Large Cell Neuroendocrine Carcinoma Show Morphologic and Phenotypic Overlap.
    Title: POU2F3-Expressing Small Cell Lung Carcinoma and Large Cell Neuroendocrine Carcinoma Show Morphologic and Phenotypic Overlap.
  2. An integrated multiomics analysis of rectal cancer patients identified POU2F3 as a putative druggable target and entinostat as a cytotoxic enhancer of 5-fluorouracil.
    Title: An integrated multiomics analysis of rectal cancer patients identified POU2F3 as a putative druggable target and entinostat as a cytotoxic enhancer of 5-fluorouracil.
  3. The predictive value of YAP-1 and POU2F3 for the efficacy of immuno-chemotherapy in extensive-stage SCLC patients.
    Title: The predictive value of YAP-1 and POU2F3 for the efficacy of immuno-chemotherapy in extensive-stage SCLC patients.
  4. POU2AF2/C11orf53 functions as a coactivator of POU2F3 by maintaining chromatin accessibility and enhancer activity.
    Title: POU2AF2/C11orf53 functions as a coactivator of POU2F3 by maintaining chromatin accessibility and enhancer activity.
  5. POU2F3 in SCLC: Clinicopathologic and Genomic Analysis With a Focus on Its Diagnostic Utility in Neuroendocrine-Low SCLC.
    Title: POU2F3 in SCLC: Clinicopathologic and Genomic Analysis With a Focus on Its Diagnostic Utility in Neuroendocrine-Low SCLC.
  6. OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.
    Title: OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.
  7. POU2F3 beyond thymic carcinomas: expression across the spectrum of thymomas hints to medullary differentiation in type A thymoma.
    Title: POU2F3 beyond thymic carcinomas: expression across the spectrum of thymomas hints to medullary differentiation in type A thymoma.
  8. SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
    Title: SCLC Subtypes Defined by ASCL1, NEUROD1, POU2F3, and YAP1: A Comprehensive Immunohistochemical and Histopathologic Characterization.
  9. POU2F3 is a master regulator of tuft cell identity in a variant form of Small cell lung cancer
    Title: POU2F3 is a master regulator of a tuft cell-like variant of small cell lung cancer.
  10. Analysis of the transcription factor POU2F3 revealed a DOPr-mediated extracellular signal-regulated kinase (ERK)-dependent downregulation of this factorThe delta-opioid receptor affects epidermal homeostasis
    Title: The δ-opioid receptor affects epidermal homeostasis via ERK-dependent inhibition of transcription factor POU2F3.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40063, MGC126698

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in epidermis development TAS
Traceable Author Statement
more info
 PubMed 
involved_in keratinocyte differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation by host of viral transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
POU domain, class 2, transcription factor 3
Names
POU domain transcription factor OCT11a
octamer-binding protein 11
octamer-binding transcription factor 11
transcription factor PLA-1
transcription factor Skn-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030035.1 RefSeqGene

    Range
    8501..88306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244682.2 → NP_001231611.1  POU domain, class 2, transcription factor 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK302212, AP000679, AP001150, CU451853
    Consensus CDS
    CCDS58190.1
    UniProtKB/Swiss-Prot
    Q9UKI9
    Related
    ENSP00000260264.4, ENST00000260264.8
    Conserved Domains (2) summary
    smart00352
    Location:185 → 259
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:286 → 339
    Homeobox; Homeobox domain

  2. NM_014352.4 → NP_055167.2  POU domain, class 2, transcription factor 3 isoform 1

    See identical proteins and their annotated locations for NP_055167.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AK291993, AP000679, AP001150, BC101649
    Consensus CDS
    CCDS8431.1
    UniProtKB/Swiss-Prot
    A8K7H8, B4DY07, F5GWW6, Q3MIY3, Q9UKI9, Q9UKR7, Q9Y504
    Related
    ENSP00000441687.2, ENST00000543440.7
    Conserved Domains (2) summary
    smart00352
    Location:183 → 257
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:284 → 337
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    120236638..120319945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542739.3 → XP_011541041.1  POU domain, class 2, transcription factor 3 isoform X1

    See identical proteins and their annotated locations for XP_011541041.1

    UniProtKB/Swiss-Prot
    Q9UKI9
    Conserved Domains (2) summary
    smart00352
    Location:179 → 253
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:280 → 333
    Homeobox; Homeobox domain

  2. XM_011542742.4 → XP_011541044.1  POU domain, class 2, transcription factor 3 isoform X3

    See identical proteins and their annotated locations for XP_011541044.1

    Conserved Domains (2) summary
    smart00352
    Location:150 → 224
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:251 → 304
    Homeobox; Homeobox domain

  3. XM_011542740.3 → XP_011541042.1  POU domain, class 2, transcription factor 3 isoform X1

    See identical proteins and their annotated locations for XP_011541042.1

    UniProtKB/Swiss-Prot
    Q9UKI9
    Conserved Domains (2) summary
    smart00352
    Location:179 → 253
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:280 → 333
    Homeobox; Homeobox domain

  4. XM_011542741.4 → XP_011541043.1  POU domain, class 2, transcription factor 3 isoform X3

    See identical proteins and their annotated locations for XP_011541043.1

    Conserved Domains (2) summary
    smart00352
    Location:150 → 224
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:251 → 304
    Homeobox; Homeobox domain

  5. XM_017017487.2 → XP_016872976.1  POU domain, class 2, transcription factor 3 isoform X4

  6. XM_024448424.2 → XP_024304192.1  POU domain, class 2, transcription factor 3 isoform X2

    Conserved Domains (2) summary
    smart00352
    Location:171 → 245
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:272 → 325
    Homeobox; Homeobox domain

  7. XM_011542743.3 → XP_011541045.1  POU domain, class 2, transcription factor 3 isoform X3

    See identical proteins and their annotated locations for XP_011541045.1

    Conserved Domains (2) summary
    smart00352
    Location:150 → 224
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:251 → 304
    Homeobox; Homeobox domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    120259430..120342742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368339.1 → XP_054224314.1  POU domain, class 2, transcription factor 3 isoform X1

  2. XM_054368343.1 → XP_054224318.1  POU domain, class 2, transcription factor 3 isoform X3

  3. XM_054368340.1 → XP_054224315.1  POU domain, class 2, transcription factor 3 isoform X1

  4. XM_054368342.1 → XP_054224317.1  POU domain, class 2, transcription factor 3 isoform X3

  5. XM_054368345.1 → XP_054224320.1  POU domain, class 2, transcription factor 3 isoform X4

  6. XM_054368341.1 → XP_054224316.1  POU domain, class 2, transcription factor 3 isoform X2

  7. XM_054368344.1 → XP_054224319.1  POU domain, class 2, transcription factor 3 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UKI9.3 GenPept UniProtKB/Swiss-Prot:Q9UKI9

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