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

    Gene ID: 11281, updated on 11-Jun-2021

    Summary

    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
    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
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    Genomic context

    See POU6F2 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (38977909..39468601)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39017509..39508200)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyloxyacyl hydrolase (neutrophil) Neighboring gene VPS41 subunit of HOPS complex Neighboring gene POU6F2 antisense RNA 2 Neighboring gene uncharacterized LOC105375239 Neighboring gene small nucleolar RNA, H/ACA box 20B Neighboring gene uncharacterized LOC105375238 Neighboring gene POU6F2 antisense RNA 1 Neighboring gene uncharacterized LOC105375237 Neighboring gene YAE1 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    GeneReviews: Not available
    Wilms tumor 5
    MedGen: C1832099 OMIM: 601583 GeneReviews: Not available
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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    POU domain, class 6, transcription factor 2
    Names
    Wilms tumor suppressor locus
    retina-derived POU-domain factor-1

    NCBI Reference Sequences (RefSeq)

    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_016022.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001166018.2NP_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/Swiss-Prot
      P78424
      Conserved Domains (2) summary
      pfam00046
      Location:574627
      Homeobox; Homeobox domain
      cl22952
      Location:477550
      Pou; Pou domain - N-terminal to homeobox domain
    2. NM_001370959.1NP_001357888.1  POU domain, class 6, transcription factor 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005483, AC011292, AC073345, AC092174
      Related
      ENSP00000430514.3, ENST00000518318.7
      Conserved Domains (2) summary
      pfam00046
      Location:639693
      Homeobox; Homeobox domain
      cl22952
      Location:506615
      Pou; Pou domain - N-terminal to homeobox domain
    3. NM_007252.4NP_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
      P78424
      Related
      ENSP00000384004.1, ENST00000403058.6
      Conserved Domains (2) summary
      pfam00046
      Location:610663
      Homeobox; Homeobox domain
      cl22952
      Location:477586
      Pou; Pou domain - N-terminal to homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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