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 5 and Wilms Tumor And Radial Bilateral Aplasia. 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 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
- Monarch Initiative
- Search for POU6F2 at DataMed
- Search for POU6F2 at HumanCyc
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
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH07I038977 | Promoter | 0.8 | EPDnew | 550.8 | 0.0 | -9 | 0.1 | MITF PKNOX1 USF1 RNF2 POLR2A | POU6F2 VPS41 | |
| GH07I038976 | Enhancer | 0.4 | ENCODE | 550.8 | -1.6 | -1628 | 0.2 | CTCF EZH2 | POU6F2 VPS41 | |
| GH07I039085 | Enhancer | 1 | Ensembl ENCODE | 10.9 | +107.9 | 107902 | 0.4 | PKNOX1 KLF17 MZF1 ZNF76 ZNF2 ZNF335 ZNF366 ZNF398 TSHZ1 ZNF518A | POU6F2 POU6F2-AS2 GC07P039163 | |
| GH07I039084 | Enhancer | 0.6 | UCNEbase | 10.9 | +106.5 | 106519 | 0.6 | FOXA2 RNF2 | POU6F2 POU6F2-AS2 GC07P039163 | |
| GH07I039413 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE | 4.4 | +436.6 | 436562 | 1.3 | INSM2 ZNF76 SIN3A BMI1 ZNF2 KLF5 ZNF335 GLIS2 ZNF213 ZSCAN5C | POU6F2-AS1 POU6F2 LOC105375238 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around POU6F2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
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
No Post-translational modifications
Other Protein References for POU6F2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam antibodies for POU6F2
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-
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Abcam proteins for POU6F2
Assay Products
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
- 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.
Phenotypes From GWAS Catalog for POU6F2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA binding transcription factor activity | TAS,IEA | 8601806 |
Phenotypes for POU6F2 Gene
- GenomeRNAi human phenotypes for POU6F2:
Animal Model 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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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available POU6F2 gene related products
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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 | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for POU6F2 Gene
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
STRING
UniProtKB
| 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 by RNA polymerase II | 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
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU6F2
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miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
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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
- genomics-online: cdna clones - Search results for available POU6F2 gene related products
- orf clones - Search results for available POU6F2 gene related products
- Applied Biological Materials Clones for POU6F2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
- genomics-online: primer clones - Search results for available POU6F2 gene related 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | POU6F2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POU6F2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pou6f2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | POU6F2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | POU6F2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POU6F2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | POU6F2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| zebrafish (Danio rerio) |
Actinopterygii | pou6f2 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | pdm3 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs121918261 | pathogenic, Wilms tumor and radial bilateral aplasia | 39,339,703(+) | G/T | coding_sequence_variant, missense_variant | |
| VAR_022419 | Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583] | p.Gln192His | |||
| rs1000003365 | -- | 39,304,592(+) | T/C | intron_variant | |
| rs1000005792 | -- | 38,979,349(+) | G/A | intron_variant | |
| rs1000010822 | -- | 39,125,333(+) | C/A | 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)
Additional Variant Information for POU6F2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU6F2 Gene
Disorders for POU6F2 Gene
(4) MalaCards diseases for POU6F2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wilms tumor 5 |
|
|
| wilms tumor and radial bilateral aplasia |
|
|
| wilms tumor 1 |
|
|
| wilson-turner x-linked mental retardation 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.
Additional Disease Information for POU6F2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of neuroscience : the official journal of the Society for Neuroscience 1996) 2 3 4 22 58
- 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 44 58
- 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 44 58
- A genome-wide scan for common alleles affecting risk for autism. (PMID: 20663923) Anney R … Hallmayer J (Human molecular genetics 2010) 3 44 58
- 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 44 58
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- 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
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- Santa Cruz Biotechnology (SCBT) CRISPR for POU6F2
- Horizon Cell Lines for POU6F2
- genomics-online: cdna clones - Search results for available POU6F2 gene related products
- orf clones - Search results for available POU6F2 gene related products
- genomics-online: gRNA clones - Search results for available POU6F2 gene related products
- genomics-online: primer clones - Search results for available POU6F2 gene related products
- genomics-online: shRNA clones - Search results for available POU6F2 gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew