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, m... See more...

Aliases for POU6F2 Gene

Aliases for POU6F2 Gene

  • POU Class 6 Homeobox 2 2 3 5
  • POU Domain, Class 6, Transcription Factor 2 2 3 4
  • Retina-Derived POU-Domain Factor-1 2 3
  • RPF-1 3 4
  • Retina-Derived POU Domain Factor 1 4
  • Wilms Tumor Suppressor Locus 3
  • WTSL 3
  • RPF1 4
  • WT5 3

External Ids for POU6F2 Gene

Previous GeneCards Identifiers for POU6F2 Gene

  • GC07P038787
  • GC07P038819
  • GC07P039012

Summaries for POU6F2 Gene

Entrez Gene Summary for POU6F2 Gene

  • 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]

GeneCards Summary for POU6F2 Gene

POU6F2 (POU Class 6 Homeobox 2) is a Protein Coding gene. Diseases associated with POU6F2 include Wilms Tumor 5 and Wilms Tumor 1. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is POU6F1.

UniProtKB/Swiss-Prot Summary for POU6F2 Gene

  • Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.

Additional gene information for POU6F2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU6F2 Gene

Genomics for POU6F2 Gene

GeneHancer (GH) Regulatory Elements for POU6F2 Gene

Promoters and enhancers for POU6F2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J038976 Promoter/Enhancer 0.8 ENCODE CraniofacialAtlas 500.7 -1.6 -1603 0.2 EZH2 RAD21 CTCF TAF1 TBP EGR1 SUZ12 RBBP5 POU6F2 VPS41
GH07J038977 Promoter 0.7 EPDnew 500.7 0.0 -9 0.1 USF1 POLR2A MITF SMARCA4 RNF2 PKNOX1 YY1 POU6F2 VPS41
GH07J038978 Enhancer 0.5 Ensembl 500.7 +0.6 599 1 POLR2A MITF SMARCA4 RNF2 PKNOX1 YY1 POU6F2 lnc-YAE1D1-4
GH07J039085 Promoter/Enhancer 1.1 Ensembl ENCODE 10.9 +107.7 107701 0.8 EP300 ZNF10 ZIC2 TRIM28 ZNF341 OSR2 SMC3 ZBTB17 ZNF263 ZNF76 POU6F2 piR-35421-005 piR-59928-139
GH07J039333 Enhancer 0.7 Ensembl ENCODE 10.9 +355.7 355697 2 RELA HDAC2 YY1 MEF2B IKZF1 EP300 POU5F1 NANOG ZNF143 EBF1 LOC105375239 POU6F2-AS1 POU6F2 FAM183BP SNORA20B RF00017-6126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU6F2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU6F2

Top Transcription factor binding sites by QIAGEN in the POU6F2 gene promoter:
  • AML1a
  • C/EBPalpha
  • FAC1
  • FOXD1
  • FOXO4
  • Gfi-1
  • HOXA3
  • ISGF-3
  • Nkx2-2
  • STAT5B

Genomic Locations for POU6F2 Gene

Genomic Locations for POU6F2 Gene
chr7:38,977,904-39,493,095
(GRCh38/hg38)
Size:
515,192 bases
Orientation:
Plus strand
chr7:39,017,598-39,532,694
(GRCh37/hg19)
Size:
515,097 bases
Orientation:
Plus strand

Genomic View for POU6F2 Gene

Genes around POU6F2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU6F2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU6F2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU6F2 Gene

Proteins for POU6F2 Gene

  • Protein details for POU6F2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78424-PO6F2_HUMAN
    Recommended name:
    POU domain, class 6, transcription factor 2
    Protein Accession:
    P78424
    Secondary Accessions:
    • A4D1W2
    • C4AMB9
    • P78425
    • Q75ME8
    • Q86UM6
    • Q9UDS7

    Protein attributes for POU6F2 Gene

    Size:
    691 amino acids
    Molecular mass:
    73265 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 1]: Major isoform.
    SequenceCaution:
    • Sequence=AAB49727.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB49728.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAS07475.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAL23992.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for POU6F2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU6F2 Gene

Post-translational modifications for POU6F2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POU6F2 Gene

Domains & Families for POU6F2 Gene

Gene Families for POU6F2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU6F2 Gene

Blocks:
  • POU domain
  • POU
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POU6F2 Gene

GenScript: Design optimal peptide antigens:
  • Retina-derived POU domain factor 1 (PO6F2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78424

UniProtKB/Swiss-Prot:

PO6F2_HUMAN :
  • Belongs to the POU transcription factor family. Class-6 subfamily.
Family:
  • Belongs to the POU transcription factor family. Class-6 subfamily.
genes like me logo Genes that share domains with POU6F2: view

Function for POU6F2 Gene

Molecular function for POU6F2 Gene

UniProtKB/Swiss-Prot Function:
Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.

Phenotypes From GWAS Catalog for POU6F2 Gene

Gene Ontology (GO) - Molecular Function for POU6F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS,IEA 8601806
genes like me logo Genes that share ontologies with POU6F2: view
genes like me logo Genes that share phenotypes with POU6F2: view

Human Phenotype Ontology for POU6F2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU6F2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POU6F2 Gene

Localization for POU6F2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU6F2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU6F2 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for POU6F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with POU6F2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POU6F2 Gene

Pathways & Interactions for POU6F2 Gene

PathCards logo

SuperPathways for POU6F2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POU6F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS,IEA 8601806
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007402 ganglion mother cell fate determination TAS 8601806
genes like me logo Genes that share ontologies with POU6F2: view

No data available for Pathways by source and SIGNOR curated interactions for POU6F2 Gene

Drugs & Compounds for POU6F2 Gene

No Compound Related Data Available

Transcripts for POU6F2 Gene

mRNA/cDNA for POU6F2 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU6F2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU6F2 Gene

No ASD Table

Relevant External Links for POU6F2 Gene

GeneLoc Exon Structure for
POU6F2

Expression for POU6F2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU6F2 Gene

mRNA differential expression in normal tissues according to GTEx for POU6F2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.7), Brain - Cortex (x6.6), and Brain - Anterior cingulate cortex (BA24) (x5.6).

Protein differential expression in normal tissues from HIPED for POU6F2 Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POU6F2 Gene



Protein tissue co-expression partners for POU6F2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU6F2

SOURCE GeneReport for Unigene cluster for POU6F2 Gene:

Hs.137106

mRNA Expression by UniProt/SwissProt for POU6F2 Gene:

P78424-PO6F2_HUMAN
Tissue specificity: Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina.

Evidence on tissue expression from TISSUES for POU6F2 Gene

  • Eye(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POU6F2 Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with POU6F2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for POU6F2 Gene

Orthologs for POU6F2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU6F2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POU6F2 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POU6F2 31 30
  • 94.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pou6f2 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POU6F2 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POU6F2 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POU6F2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves POU6F2 31
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 80 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pou6f2 31
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pdm3 31
  • 18 (a)
OneToOne
Species where no ortholog for POU6F2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POU6F2 Gene

ENSEMBL:
Gene Tree for POU6F2 (if available)
TreeFam:
Gene Tree for POU6F2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU6F2: view image

Paralogs for POU6F2 Gene

(4) SIMAP similar genes for POU6F2 Gene using alignment to 7 proteins:

  • PO6F2_HUMAN
  • C9JSC0_HUMAN
  • H0YK27_HUMAN
  • H0YKR5_HUMAN
  • H0YL15_HUMAN
  • H7C2B2_HUMAN
  • U3KQC3_HUMAN
genes like me logo Genes that share paralogs with POU6F2: view

Variants for POU6F2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU6F2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709062 Benign: not provided 39,451,661(+) C/T SYNONYMOUS_VARIANT
713595 Likely Benign: not provided 39,339,681(+) T/G MISSENSE_VARIANT
713596 Likely Benign: not provided 39,339,687(+) T/A MISSENSE_VARIANT
713597 Likely Benign: not provided 39,339,688(+) C/G SYNONYMOUS_VARIANT
717220 Likely Benign: not provided 39,204,305(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for POU6F2 Gene

Structural Variations from Database of Genomic Variants (DGV) for POU6F2 Gene

Variant ID Type Subtype PubMed ID
dgv3773e59 CNV duplication 20981092
dgv6337n100 CNV gain 25217958
esv1002601 CNV deletion 20482838
esv1008050 CNV deletion 20482838
esv1447703 CNV insertion 17803354
esv1455501 CNV deletion 17803354
esv2236589 CNV deletion 18987734
esv2670460 CNV deletion 23128226
esv2670994 CNV deletion 23128226
esv2734293 CNV deletion 23290073
esv2734294 CNV deletion 23290073
esv2734296 CNV deletion 23290073
esv2734297 CNV deletion 23290073
esv2734298 CNV deletion 23290073
esv2734299 CNV deletion 23290073
esv275166 CNV loss 21479260
esv2761126 CNV loss 21179565
esv3344888 CNV duplication 20981092
esv3541518 CNV deletion 23714750
esv3541519 CNV deletion 23714750
esv3571803 CNV loss 25503493
esv3571804 CNV loss 25503493
esv3612896 CNV loss 21293372
esv3612897 CNV loss 21293372
esv3612898 CNV loss 21293372
esv3612899 CNV loss 21293372
esv3612901 CNV loss 21293372
esv3612902 CNV loss 21293372
esv3612905 CNV loss 21293372
esv3612906 CNV loss 21293372
esv3612907 CNV loss 21293372
nsv1024142 CNV gain 25217958
nsv1074497 CNV deletion 25765185
nsv1075947 CNV deletion 25765185
nsv1124953 CNV duplication 24896259
nsv1137214 CNV deletion 24896259
nsv1140377 OTHER inversion 24896259
nsv1146721 CNV insertion 26484159
nsv366945 CNV deletion 16902084
nsv428163 CNV loss 18775914
nsv476114 CNV novel sequence insertion 20440878
nsv830967 CNV loss 17160897
nsv830968 CNV gain 17160897
nsv957048 CNV deletion 24416366
nsv957615 CNV deletion 24416366

Variation tolerance for POU6F2 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.61; 89.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU6F2 Gene

Human Gene Mutation Database (HGMD)
POU6F2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU6F2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU6F2 Gene

Disorders for POU6F2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POU6F2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wilms tumor 5
  • nephroblastoma
wilms tumor 1
  • wt1
wilson-turner x-linked mental retardation syndrome
  • wts
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PO6F2_HUMAN
  • Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]: Pediatric malignancy of kidney and one of the most common solid cancers in childhood. {ECO:0000269 PubMed:11284034}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for POU6F2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POU6F2: view

No data available for Genatlas for POU6F2 Gene

Publications for POU6F2 Gene

  1. Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells. (PMID: 8601806) Zhou H … Nathans J (The Journal of neuroscience : the official journal of the Society for Neuroscience 1996) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41 54
  4. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 41 54
  5. Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. (PMID: 15459955) Perotti D … Radice P (Human mutation 2004) 3 41 54

Products for POU6F2 Gene

Sources for POU6F2 Gene