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

Gene ID: 11281, updated on 18-Sep-2024

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; 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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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_001166018.2NP_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/TrEMBL
    A0A140GPP8
    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
    Consensus CDS
    CCDS94088.1
    UniProtKB/TrEMBL
    A0A140GPP8, A0A6E1XZL4
    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
    A4D1W2, C4AMB9, P78424, P78425, Q75ME8, Q86UM6, Q9UDS7
    UniProtKB/TrEMBL
    A0A140GPP8
    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: 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_047419843.1XP_047275799.1  POU domain, class 6, transcription factor 2 isoform X1

    UniProtKB/TrEMBL
    A0A140GPP8
  2. XM_047419845.1XP_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_054357177.1XP_054213152.1  POU domain, class 6, transcription factor 2 isoform X1

    UniProtKB/TrEMBL
    A0A140GPP8
  2. XM_054357178.1XP_054213153.1  POU domain, class 6, transcription factor 2 isoform X2

    UniProtKB/TrEMBL
    A0A140GPP8