Aliases for POU6F2 Gene
Aliases for POU6F2 Gene
External Ids for POU6F2 Gene
- HGNC: 21694
- Entrez Gene: 11281
- Ensembl: ENSG00000106536
- OMIM: 609062
- UniProtKB: P78424
Previous GeneCards Identifiers for POU6F2 Gene
- GC07P038787
- GC07P038819
- GC07P039012
Summaries 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 and Wilson-Turner Syndrome. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU6F2 Gene
Genomics for POU6F2 Gene
Regulatory Elements for POU6F2 Gene
Enhancers for POU6F2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH07G039085 | 1.1 | Ensembl ENCODE | 10.9 | +107.9 | 107902 | 0.4 | PKNOX1 ZNF76 KLF17 ZNF2 ZNF366 ZNF263 TSHZ1 ZNF398 ZNF843 ZNF518A | POU6F2 POU6F2-AS2 GC07P039163 |
| GH07G039291 | 1.5 | ENCODE | 6.7 | +314.1 | 314064 | 1.3 | PKNOX1 CEBPB HNF4A CEBPG ZNF384 | POU6F2 GC07P039305 GC07P039163 |
| GH07G039458 | 0.6 | Ensembl | 11.2 | +480.6 | 480597 | 0.2 | L3MBTL2 ETV1 ZNF175 ELF1 PYGO2 GABPA TFDP1 GABPB1 ZNF143 MGA | POU6F2-AS1 POU6F2 YAE1D1 LOC105375240 LOC105375238 |
| GH07G039413 | 1.5 | FANTOM5 Ensembl ENCODE | 4.3 | +436.6 | 436563 | 1.3 | WRNIP1 ZNF2 GLIS2 ZNF143 SP3 REST SMARCA4 GLIS1 NBN KDM1A | POU6F2-AS1 POU6F2 LOC105375238 |
| GH07G039130 | 1.4 | ENCODE | 4.3 | +153.1 | 153140 | 1.2 | SMARCA4 EZH2 | POU6F2 GC07P039163 POU6F2-AS2 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around POU6F2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the POU6F2 gene promoter:
Regulatory Element Products
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:
-
- 7p14.1 by Ensembl
- 7p14.1 by Entrez Gene
- 7p14.1 by HGNC
POU6F2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for POU6F2 Gene
Post-translational modifications for POU6F2 Gene
Other Protein References for POU6F2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for POU6F2
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- antibodies-online Antibodies for POU6F2: See all 59
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-
Santa Cruz Biotechnology (SCBT) Antibodies for POU6F2
Protein Products
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- antibodies-online Proteins for POU6F2: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for POU6F2
-
Abcam proteins for POU6F2
No data available for DME Specific Peptides for POU6F2 Gene
Domains & Families for POU6F2 Gene
Gene Families for POU6F2 Gene
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
P78424UniProtKB/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.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | TAS,IEA | 8601806 |
Phenotypes for POU6F2 Gene
- GenomeRNAi human phenotypes for POU6F2:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for POU6F2 gene
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- Search ViGene Biosciences for POU6F2
CRISPR Products
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-
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miRNA for POU6F2 Gene
- miRTarBase miRNAs that target POU6F2
-
- hsa-mir-335-5p (MIRT016800)
- hsa-mir-505-5p (MIRT496610)
- hsa-mir-545-3p (MIRT496611)
- hsa-mir-3120-3p (MIRT496612)
- hsa-mir-7850-5p (MIRT712766)
- hsa-mir-3978 (MIRT712767)
- hsa-mir-6124 (MIRT712768)
- hsa-mir-3148 (MIRT712769)
- hsa-mir-548t-3p (MIRT712770)
- hsa-mir-548ap-3p (MIRT712771)
- hsa-mir-548aa (MIRT712772)
miRNA Products
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Inhibitory RNA Products
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ViGene Biosciences ready-to-package AAV shRNAs for POU6F2 gene
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for POU6F2
-
ViGene Biosciences adenoviral particle packaged cDNA for POU6F2 gene
-
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-
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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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IC,IEA | 8601806 |
Pathways & Interactions for POU6F2 Gene
No Data Available
Interacting Proteins for POU6F2 Gene
Selected Interacting proteins:
P78424-PO6F2_HUMAN
ENSP00000384004
for POU6F2 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | TAS,IEA | 8601806 |
| GO:0006366 | transcription from RNA polymerase II promoter | IEA | -- |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007402 | ganglion mother cell fate determination | TAS | 8601806 |
No data available for Pathways by source and SIGNOR curated interactions for POU6F2 Gene
Transcripts for POU6F2 Gene
mRNA/cDNA for POU6F2 Gene
- (3) 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
CRISPR Products
-
OriGene CRISPR knockouts for POU6F2
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU6F2
- GenScript: Design CRISPR guide RNA sequences for POU6F2
miRNA Products
- Search ViGene Biosciences for POU6F2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for POU6F2
- Browse OriGene Inhibitory RNA Products For POU6F2
-
ViGene Biosciences ready-to-package AAV shRNAs for POU6F2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for POU6F2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POU6F2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of POU6F2 Gene:
POU6F2SOURCE GeneReport for Unigene cluster for POU6F2 Gene:
Hs.137106mRNA 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
Organs:
Abdomen:
- kidney
Primer Products
-
OriGene qPCR primer pairs for POU6F2
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POU6F2 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POU6F2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Pou6f2 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POU6F2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | POU6F2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POU6F2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POU6F2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| zebrafish (Danio rerio) |
Actinopterygii | pou6f2 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | pdm3 35 |
|
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)
Paralogs for POU6F2 Gene
Paralogs for POU6F2 Gene
(4) SIMAP similar genes for POU6F2 Gene using alignment to 7 proteins:
Variants for POU6F2 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_022419 | Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583] | ||||
| rs121918261 | other | 39,339,703(+) | CAGCA(G/T)CAGCA | upstream-variant-2KB, reference, missense | |
| rs1000003365 | -- | 39,304,592(+) | ACCCA(C/T)AAATA | intron-variant | |
| rs1000005792 | -- | 38,979,349(+) | GTTCT(A/G)AAAGC | intron-variant | |
| rs1000010822 | -- | 39,125,333(+) | AGATT(A/C)TCTGC | intron-variant |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU6F2 Gene
Disorders for POU6F2 Gene
(2) MalaCards diseases for POU6F2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wilms tumor susceptibility-5 |
|
|
| wilson-turner syndrome |
|
|
Search POU6F2 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for POU6F2 Gene
Publications for POU6F2 Gene
- 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 22 64
- 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 46 64
- 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 46 64
- A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R. … Hallmayer J. (Hum. Mol. Genet. 2010) 3 46 64
- Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. (PMID: 15459955) Perotti D. … Radice P. (Hum. Mutat. 2004) 3 46 64
Products for POU6F2 Gene
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- antibodies-online Antibodies for POU6F2: See all 59
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- Cyagen custom Knockout/knockin (KOKI) mouse models for POU6F2
- VectorBuilder custom plasmid, inducible vectors for POU6F2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POU6F2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for POU6F2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
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- (100) COMPARTMENTS
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