U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 11281, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See POU6F2 in Genome Data Viewer
Location:
7p14.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (38977909..39468601)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39134935..39626147)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. 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
  3. Retina-derived POU domain factor 1 coordinates expression of genes relevant to renal and neuronal development. Fiorino A, et al. Int J Biochem Cell Biol, 2016 Sep. PMID 27425396
  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. 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

See all (21) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
POU domain, class 6, transcription factor 2
Names
Wilms tumor suppressor locus
retina-derived POU-domain factor-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001166018.2 → 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_2023_10

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

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

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

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

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous