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POU6F2 (POU domain, class 6, transcription factor 2)

Written2005-06Daniela Perotti, Luisa Doneda, Paolo Radice
U.O.4 Genetic susceptibility to cancer, Istituto Nazionale Tumori, Via Venezian, 1, 20133 Milan, Italy

(Note : for Links provided by Atlas : click)


Alias (NCBI)RPF-1 (Retina-derived POU-domain factor-1)
HGNC (Hugo) POU6F2
HGNC Alias symbRPF-1
HGNC Alias nameRetina-derived POU-domain factor-1
HGNC Previous namePOU domain, class 6, transcription factor 2
LocusID (NCBI) 11281
Atlas_Id 42963
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 38977909 and ends at 39468601 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping POU6F2.png]
Local_order Cen-CDC2L5-RALA-POU6F2-VPS41-AMPH-Tel
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AGMO (7p21.2) / POU6F2 (7p14.1)ANLN (7p14.2) / POU6F2 (7p14.1)POU6F2 (7p14.1) / KCND2 (7q31.31)
POU6F2 (7p14.1) / ZNF366 (5q13.2)SUGCT (7p14.1) / POU6F2 (7p14.1)


Note POU6F2, previously named RPF-1 was isolated from a retina cDNA library
  modified from Exons 1D to 10 of the gene are indicated by the vertical bars.
Description Thirteen exons, including 4 alternative exons 1, encompassing 458 Kb of genomic DNA (exons 1D to 10).
Transcription Representative mRNA: U91935 2159 bases. Alternative splicings: four alternative exons 1; variable skipping of exon 6; variable skipping of both exons 8 and 9; +/- 36 aminoacids at the 5' end of exon 10.


  modified from:
Description POU6F2 is a member of a gene family whose products are characterized by the presence of a bipartite DNA-binding domain, consisting of a POU-specific domain and a POU heterodomain, separated by a variable polylinker. Both subdomains contain helix-turn-helix motifs that directly associate with the two components of bipartite DNA-binding sites. In addition, the POU6F2 protein contains a poly-glutamine (poly-Q) domain. Glutamine repeats are evolutionary conserved domains that may act as polar zippers by joining proteins bound to separate DNA segments and thus regulating their activity. POU domain family members are transcriptional regulators, many of which show highly restricted patterns of expression and are known to control cell type-specific differentiation pathways. POU6F2 encodes a deduced 648-amino acid protein. Alternative splicing potentially generates 24 distinct mRNA isoforms coding for proteins with different DNA-binding activity. The most abundant POU6F2 isoforms in human retina have an insertion of an evolutionarily conserved 36-amino acid peptide into the DNA recognition helix of the POU-specific domain. In vitro, the POU domain of POU6F2 lacking the insert binds to a consensus binding site for the product of another gene of the POU family, OCT1, whereas the alternatively spliced POU domain does not.
Expression Immunohistochemical and ribonuclease protection assays showed that in adult mouse Pou6f2 is expressed within the central nervous system, where its expression is restricted to the medial habenula, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina. In mouse embryo, Pou6f2 expression was detected during the earliest stages of retinal differentiation where it appears to be involved in the initial steps of amacrine and ganglion cell commitment.
RT-PCR analysis of the mouse Pou6f2 gene revealed expression in kidney, adrenal gland, heart, stomach, muscle, and eye, but not in lung or skin, of mouse fetuses at embryonic day (E) 18, and in kidney, heart, muscle, spleen, and ovary, but not in lung, of adult mice.
Localisation nuclear (presumptive).
Function POU-domain family transcription factor (presumptive).
Homology Other POU-domain family genes


Note The POU6F2 gene is located within an interval on chromosome 7p14 where loss of heterozygosity (LOH) was detected in a fraction of Wilms tumors (WTs), a kidney malignancy of childhood characterized by highly heterogeneous genetic alterations. By sequencing the POU6F2 gene in 12 WTs showing LOH on chromosome 7p14, 2 germline mutations of possible pathogenic significance were identified.
The finding of the expression of the POU6F2 mouse homolog in both fetal and adult kidney, together with the demonstration of mutations in WT patients, suggest that the gene is a tumor suppressor and is involved in hereditary predisposition to WT.
Germinal In a patient with WT and LOH at chromosome 7p14, a germline 552G-T transversion in exon 5 of the POU6F2 gene, resulting in a gln184-to-his (Q184H) substitution in a glutamine repeat domain, was identified. The patient showed loss of the constitutionally wildtype allele in tumor DNA. Neither the mother nor the father carried this mutation. Marker studies indicated that the deletion in tumor DNA was of maternal origin, suggesting that the identified base change most likely occurred as a de novo germline point mutation on the paternal chromosome.
In a patient with WT showing LOH at chromosome 7p14, a germline C-to-G transversion in the untranslated portion of the alternatively spliced exon 1C of the POU6F2 gene was identified. The mutation was inherited from the unaffected mother.

Implicated in

Entity Wilms tumor, or nephroblastoma
Prognosis good with treatment according to National Wilms Tumor Study Group (NWTSG) or International Society of Paediatric Oncology (SIOP) or Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP)


Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.
Perotti D, De Vecchi G, Testi MA, Lualdi E, Modena P, Mondini P, Ravagnani F, Collini P, Di Renzo F, Spreafico F, Terenziani M, Sozzi G, Fossati-Bellani F, Radice P
Human mutation. 2004 ; 24 (5) : 400-407.
PMID 15459955
Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours.
Perotti D, Testi MA, Mondini P, Pilotti S, Green ED, Pession A, Sozzi G, Pierotti MA, Fossati-Bellani F, Radice P
Genes, chromosomes & cancer. 2001 ; 31 (1) : 42-47.
PMID 11284034
The virtuoso of versatility: POU proteins that flex to fit.
Phillips K, Luisi B
Journal of molecular biology. 2000 ; 302 (5) : 1023-1039.
PMID 11183772
Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells.
Zhou H, Yoshioka T, Nathans J
The Journal of neuroscience : the official journal of the Society for Neuroscience. 1996 ; 16 (7) : 2261-2274.
PMID 8601806


This paper should be referenced as such :
Perotti, D ; Doneda, L ; Radice, P
POU6F2 (POU domain, class 6, transcription factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):280-281.
Free journal version : [ pdf ]   [ DOI ]

External links

HGNC (Hugo)POU6F2   21694
Entrez_Gene (NCBI)POU6F2    POU class 6 homeobox 2
AliasesRPF-1; WT5; WTSL
GeneCards (Weizmann)POU6F2
Ensembl hg19 (Hinxton)ENSG00000106536 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106536 [Gene_View]  ENSG00000106536 [Sequence]  chr7:38977909-39468601 [Contig_View]  POU6F2 [Vega]
ICGC DataPortalENSG00000106536
TCGA cBioPortalPOU6F2
AceView (NCBI)POU6F2
Genatlas (Paris)POU6F2
SOURCE (Princeton)POU6F2
Genetics Home Reference (NIH)POU6F2
Genomic and cartography
GoldenPath hg38 (UCSC)POU6F2  -     chr7:38977909-39468601 +  7p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POU6F2  -     7p14.1   [Description]    (hg19-Feb_2009)
GoldenPathPOU6F2 - 7p14.1 [CytoView hg19]  POU6F2 - 7p14.1 [CytoView hg38]
genome Data Viewer NCBIPOU6F2 [Mapview hg19]  
OMIM601583   609062   
Gene and transcription
Genbank (Entrez)AK309700 DN991890 U91935
RefSeq transcript (Entrez)NM_001166018 NM_001370959 NM_007252
Consensus coding sequences : CCDS (NCBI)POU6F2
Alternative Splicing GalleryENSG00000106536
Gene ExpressionPOU6F2 [ NCBI-GEO ]   POU6F2 [ EBI - ARRAY_EXPRESS ]   POU6F2 [ SEEK ]   POU6F2 [ MEM ]
Gene Expression Viewer (FireBrowse)POU6F2 [ Firebrowse - Broad ]
GenevisibleExpression of POU6F2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11281
GTEX Portal (Tissue expression)POU6F2
Human Protein AtlasENSG00000106536-POU6F2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78424   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78424  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78424
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)    POU_1 (PS00035)    POU_2 (PS00465)    POU_3 (PS51179)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_dom    Lambda_DNA-bd_dom_sf    POU    POU6F2    POU_dom   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    Pou (PF00157)   
Domain families : Pfam (NCBI)pfam00046    pfam00157   
Domain families : Smart (EMBL)HOX (SM00389)  POU (SM00352)  
Conserved Domain (NCBI)POU6F2
AlphaFold pdb e-kbP78424   
Human Protein Atlas [tissue]ENSG00000106536-POU6F2 [tissue]
Protein Interaction databases
IntAct (EBI)P78424
Ontologies - Pathways
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  ganglion mother cell fate determination  central nervous system development  visual perception  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  ganglion mother cell fate determination  central nervous system development  visual perception  
NDEx NetworkPOU6F2
Atlas of Cancer Signalling NetworkPOU6F2
Wikipedia pathwaysPOU6F2
Orthology - Evolution
GeneTree (enSembl)ENSG00000106536
Phylogenetic Trees/Animal Genes : TreeFamPOU6F2
Homologs : HomoloGenePOU6F2
Homology/Alignments : Family Browser (UCSC)POU6F2
Gene fusions - Rearrangements
Fusion : MitelmanANLN/POU6F2 [7p14.2/7p14.1]  
Fusion : MitelmanSUGCT/POU6F2 [7p14.1/7p14.1]  
Fusion PortalANLN 7p14.2 POU6F2 7p14.1 BLCA
Fusion PortalC7orf10 POU6F2 7p14.1 BRCA
Fusion : QuiverPOU6F2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOU6F2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POU6F2
Exome Variant ServerPOU6F2
GNOMAD BrowserENSG00000106536
Varsome BrowserPOU6F2
Genomic Variants (DGV)POU6F2 [DGVbeta]
DECIPHERPOU6F2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOU6F2 
ICGC Data PortalPOU6F2 
TCGA Data PortalPOU6F2 
Broad Tumor PortalPOU6F2
OASIS PortalPOU6F2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOU6F2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPOU6F2
Mutations and Diseases : HGMDPOU6F2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutasearch POU6F2
DgiDB (Drug Gene Interaction Database)POU6F2
DoCM (Curated mutations)POU6F2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POU6F2 (select a term)
NCG6 (London) select POU6F2
Cancer3DPOU6F2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM601583    609062   
Genetic Testing Registry POU6F2
NextProtP78424 [Medical]
Target ValidationPOU6F2
Huge Navigator POU6F2 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDPOU6F2
Pharm GKB GenePA134969420
Clinical trialPOU6F2
DataMed IndexPOU6F2
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 23:52:57 CEST 2021

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