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

    Gene ID: 25833, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (120236638..120319945)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (120259430..120342742)
    RS_2024_09 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 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. POU2F3-Expressing Small Cell Lung Carcinoma and Large Cell Neuroendocrine Carcinoma Show Morphologic and Phenotypic Overlap. Jimbo N, et al. Am J Surg Pathol, 2024 Jan 1. PMID 37904277
    2. Aberrant promoter methylation and silencing of the POU2F3 gene in cervical cancer. Zhang Z, et al. Oncogene, 2006 Aug 31. PMID 16607278
    3. The transcription factor PLA-1/SKN-1A is expressed in human placenta and regulates the placental lactogen-3 gene expression. Jiménez-Mateo O, et al. Placenta, 2006 Apr-May. PMID 16005513
    4. Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes. Nakajima K, et al. J Invest Dermatol, 2008 May. PMID 17989732
    5. Keratinocyte-specific POU transcription factor hSkn-1a represses the growth of cervical cancer cell lines. Enomoto Y, et al. Oncogene, 2004 Jun 24. PMID 15077167

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mammalian SWI/SNF complex activity regulates POU2F3 and constitutes a targetable dependency in small cell lung cancer.
      Title: Mammalian SWI/SNF complex activity regulates POU2F3 and constitutes a targetable dependency in small cell lung cancer.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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
    located_in 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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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