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POU6F2 Gene(Protein Coding)

POU Class 6 Homeobox 2

GCID:
GC07P038977
GIFtS:
54
Genes Participants
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Aliases for POU6F2 Gene

Aliases for POU6F2 Gene

  • POU Class 6 Homeobox 2 2 3 5
  • Retina-Derived POU-Domain Factor-1 2 3
  • Retina-Derived POU Domain Factor 1 3 4
  • RPF-1 3 4
  • POU Domain, Class 6, Transcription Factor 2 2
  • POU Domain Class 6 Transcription Factor 2 3
  • Wilms Tumor Suppressor Locus 3
  • RPF1 4
  • WTSL 3
  • 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 Susceptibility-5. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is POU6F1.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU6F2 Gene

Genomics for POU6F2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for POU6F2 Gene

Enhancers for POU6F2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POU6F2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the POU6F2 gene promoter:

Genomic Location for POU6F2 Gene

Chromosome:
7
Start:
38,977,904 bp from pter
End:
39,493,095 bp from pter
Size:
515,192 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 Structure • Gene Density

RefSeq DNA sequence for POU6F2 Gene

Proteins for POU6F2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    SequenceCaution:
    • Sequence=AAB49727.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB49728.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAS07475.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Proteomics data for POU6F2 Gene at MOPED

Protein Expression for POU6F2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU6F2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU6F2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU6F2 Gene

Domains & Families for POU6F2 Gene

Gene Families for POU6F2 Gene

HGNC:

Protein Domains for POU6F2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POU6F2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78424

UniProtKB/Swiss-Prot:

PO6F2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the POU transcription factor family. Class-6 subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 POU-specific domain.
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 for POU6F2 Gene

GenomeRNAi human phenotypes for POU6F2:
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

miRNA for POU6F2 Gene

miRTarBase miRNAs that target POU6F2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for POU6F2 Gene

Localization for POU6F2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU6F2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POU6F2 Gene COMPARTMENTS Subcellular localization image for POU6F2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for POU6F2 Gene

Pathways & Interactions for POU6F2 Gene

SuperPathways for POU6F2 Gene

PathCards logoMore details on SuperPathways for POU6F2
No Data Available

Gene Ontology (GO) - Biological Process for POU6F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007402 ganglion mother cell fate determination TAS 8601806
GO:0007417 central nervous system development 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for POU6F2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for POU6F2 Gene

(4) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU6F2 Gene

POU class 6 homeobox 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
POU6F2

Expression for POU6F2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for POU6F2 Gene

mRNA expression in normal human tissues for POU6F2 Gene
mRNA expression by BioGPS for POU6F2 GenemRNA expression by GTEx 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, PaxDb, and MOPED for POU6F2 Gene



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.
genes like me logo Genes that share expression patterns with POU6F2: view

Protein tissue co-expression partners for POU6F2 Gene

Primer Products

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
dog
(Canis familiaris)
 Mammalia POU6F2 35
  • 94.04 (n)
  • 95.64 (a)
POU6F2 36
  • 89 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia POU6F2 36
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia POU6F2 36
  • 81 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pou6f2 36
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia POU6F2 36
  • 79 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia POU6F2 36
  • 100 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves POU6F2 36
  • 85 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 80 (a)
 OneToMany
-- 36
  • 77 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii pou6f2 36
  • 70 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta pdm3 36
  • 18 (a)
 OneToOne
Species with no ortholog for POU6F2:
  • 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)

Paralogs for POU6F2 Gene

Paralogs for POU6F2 Gene

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

genes like me logo Genes that share paralogs with POU6F2: view

Variants for POU6F2 Gene

Sequence variations from dbSNP and Humsavar for POU6F2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_022419 Hereditary susceptibility to Wilms tumor 5 (WT5)
rs2074936 - 39,339,726(-) TTGAC(A/G)GGGGA reference, missense
VAR_028411 -
VAR_028412 -
rs859513 -- 39,017,432(-) GAATA(C/T)TGTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830967 CNV Loss 17160897
nsv887967 CNV Loss 21882294
esv1455501 CNV Deletion 17803354
esv275166 CNV Loss 21479260
esv1447703 CNV Insertion 17803354
nsv887968 CNV Loss 21882294
nsv428163 CNV Loss 18775914
nsv830968 CNV Gain 17160897
esv2670994 CNV Deletion 23128226
nsv887969 CNV Loss 21882294
esv2734293 CNV Deletion 23290073
esv2734294 CNV Deletion 23290073
esv2236589 CNV Deletion 18987734
esv2734296 CNV Deletion 23290073
esv1002601 CNV Deletion 20482838
nsv366945 CNV Loss 16902084
esv2734297 CNV Deletion 23290073
esv2734298 CNV Deletion 23290073
esv1008050 CNV Deletion 20482838
esv2670460 CNV Deletion 23128226
esv2734299 CNV Deletion 23290073

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)

Relevant External Links for POU6F2 Gene

Human Gene Mutation Database (HGMD)
POU6F2

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

Disorders for POU6F2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for POU6F2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
wilms tumor susceptibility-5
  • wilms tumor
- 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.

Relevant External Links for POU6F2

Genetic Association Database (GAD)
POU6F2
Human Genome Epidemiology (HuGE) Navigator
POU6F2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU6F2
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. (J. Neurosci. 1996) 2 3 4 23 67
  2. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R. … Hallmayer J. (Hum. Mol. Genet. 2010) 3

Products for POU6F2 Gene

Sources for POU6F2 Gene

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