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    POU6F2 POU class 6 homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 11281, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POU6F2provided by HGNC
    Official Full Name
    POU class 6 homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:21694
    See related
    Ensembl:ENSG00000106536 MIM:609062; AllianceGenome:HGNC:21694
    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
    WT5; WTSL; RPF-1
    Summary
    This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See POU6F2 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (38977909..39468601)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39134935..39626147)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39017509..39508200)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CFAP144 pseudogene 1 Neighboring gene VPS41 subunit of HOPS complex Neighboring gene MPRA-validated peak6495 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38925534-38926050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:38926051-38926567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25874 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:38989846-38991045 Neighboring gene POU6F2 antisense RNA 2 Neighboring gene MPRA-validated peak6496 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:39082046-39082670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:39298804-39299337 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39310732-39311232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39311233-39311733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39350441-39350942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39349937-39350440 Neighboring gene uncharacterized LOC105375239 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:39393021-39393598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:39393599-39394176 Neighboring gene small nucleolar RNA, H/ACA box 20B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39440173-39440673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25875 Neighboring gene uncharacterized LOC105375238 Neighboring gene POU6F2 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr7:39502080-39502581 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39504601-39505102 Neighboring gene uncharacterized LOC105375237 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:39547614-39548813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25876 Neighboring gene YAE1 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. Perotti D, et al. Hum Mutat, 2004 Nov. PMID 15459955
    2. The virtuoso of versatility: POU proteins that flex to fit. Phillips K, et al. J Mol Biol, 2000 Oct 6. PMID 11183772
    3. Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma. Miao Y, et al. Mol Genet Genomic Med, 2019 Dec. PMID 31692290, Free PMC Article
    4. Wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report. Perotti D, et al. J Pediatr Hematol Oncol, 2005 Oct. PMID 16217254
    5. Restricted Presence of POU6F2 in Human Corneal Endothelial Cells Uncovered by Extension of the Promoter-level Expression Atlas. Yoshihara M, et al. EBioMedicine, 2017 Nov. PMID 29113774, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
      Title: POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
    2. Whole-genome sequencing identified two novel somatic mutations in the POU6F2 gene (c. 839 C>T; c. 875A>G) in patients with prolactinoma. The mutations obviously decreased the expression level of POU6F2. Inhibition its activity increased the cell proliferation and PRL secretion in pituitary tumor cell line, but proliferation and PRL secretion were decreased in cells with POU6F2 overexpression.
      Title: Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma.
    3. We further discovered that the expression of transcription factor POU class 6 homeobox 2 (POU6F2) is restricted to Corneal endothelial cells (CECs) , and upregulated during human CEC differentiation, suggesting that POU6F2 is pivotal to terminal differentiation of CECs
      Title: Restricted Presence of POU6F2 in Human Corneal Endothelial Cells Uncovered by Extension of the Promoter-level Expression Atlas.
    4. Genomic loci were examined in the NEIGHBORHOOD database to determine if they are potential risk factors for human glaucoma identified using meta-data from human GWAS. The top 50 hits all resided within one gene (POU6F2), with the highest significance level of p = 10-6 for SNP rs76319873. POU6F2 is found in retinal ganglion cells and in corneal limbal stem cells.
      Title: Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.
    5. Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development
      Title: Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide scan for common alleles affecting risk for autism.
    8. observations suggest that POU6F2 is a tumor suppressor and is involved in hereditary predisposition to Wilms tumor
      Title: Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Wilms tumor 5
    MedGen: C1832099 OMIM: 601583 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity TAS
    Traceable Author Statement
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    POU domain, class 6, transcription factor 2
    Names
    Wilms tumor suppressor locus
    retina-derived POU-domain factor-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_016022.2 RefSeqGene

      Range
      5032..495724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166018.2 → NP_001159490.1  POU domain, class 6, transcription factor 2 isoform 2

      See identical proteins and their annotated locations for NP_001159490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC005483, AC011292, AC073345, AC092174
      UniProtKB/TrEMBL
      A0A140GPP8
      Conserved Domains (2) summary
      pfam00046
      Location:574 → 627
      Homeobox; Homeobox domain
      cl22952
      Location:477 → 550
      Pou; Pou domain - N-terminal to homeobox domain

    2. NM_001370959.1 → NP_001357888.1  POU domain, class 6, transcription factor 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005483, AC011292, AC073345, AC092174
      Consensus CDS
      CCDS94088.1
      UniProtKB/TrEMBL
      A0A140GPP8, A0A6E1XZL4
      Related
      ENSP00000430514.3, ENST00000518318.7
      Conserved Domains (2) summary
      pfam00046
      Location:639 → 693
      Homeobox; Homeobox domain
      cl22952
      Location:506 → 615
      Pou; Pou domain - N-terminal to homeobox domain

    3. NM_007252.4 → NP_009183.3  POU domain, class 6, transcription factor 2 isoform 1

      See identical proteins and their annotated locations for NP_009183.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC005483, AC011292, AC073345, AC092174
      UniProtKB/Swiss-Prot
      A4D1W2, C4AMB9, P78424, P78425, Q75ME8, Q86UM6, Q9UDS7
      UniProtKB/TrEMBL
      A0A140GPP8
      Related
      ENSP00000384004.1, ENST00000403058.6
      Conserved Domains (2) summary
      pfam00046
      Location:610 → 663
      Homeobox; Homeobox domain
      cl22952
      Location:477 → 586
      Pou; Pou domain - N-terminal to 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      38977909..39468601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419843.1 → XP_047275799.1  POU domain, class 6, transcription factor 2 isoform X1

      UniProtKB/TrEMBL
      A0A140GPP8

    2. XM_047419845.1 → XP_047275801.1  POU domain, class 6, transcription factor 2 isoform X2

      UniProtKB/TrEMBL
      A0A140GPP8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      39134935..39626147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357177.1 → XP_054213152.1  POU domain, class 6, transcription factor 2 isoform X1

      UniProtKB/TrEMBL
      A0A140GPP8

    2. XM_054357178.1 → XP_054213153.1  POU domain, class 6, transcription factor 2 isoform X2

      UniProtKB/TrEMBL
      A0A140GPP8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78424.3 GenPept UniProtKB/Swiss-Prot:P78424

    Gene LinkOut

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

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