Aliases for POU4F2 Gene
Aliases for POU4F2 Gene
External Ids for POU4F2 Gene
- HGNC: 9219
- Entrez Gene: 5458
- Ensembl: ENSG00000151615
- OMIM: 113725
- UniProtKB: Q12837
Previous HGNC Symbols for POU4F2 Gene
- BRN3B
Previous GeneCards Identifiers for POU4F2 Gene
- GC04P148362
- GC04P147935
- GC04P148137
- GC04P147917
- GC04P147779
- GC04P147560
- GC04P143287
Summaries for POU4F2 Gene
-
The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
GeneCards Summary for POU4F2 Gene
POU4F2 (POU Class 4 Homeobox 2) is a Protein Coding gene. Diseases associated with POU4F2 include Wilms Tumor Susceptibility-5. Among its related pathways are Gene Expression and Regulation of TP53 Activity. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is POU6F1.
UniProtKB/Swiss-Prot for POU4F2 Gene
-
Transcription factor. May play a role in determining or maintaining the identities of a small subset of visual system neurons.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU4F2 Gene
Genomics for POU4F2 Gene
Regulatory Elements for POU4F2 Gene
Enhancers for POU4F2 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 POU4F2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the POU4F2 gene promoter:
Regulatory Element Products
Genomic Location for POU4F2 Gene
- Chromosome:
- 4
- Start:
- 146,638,893 bp from pter
- End:
- 146,642,474 bp from pter
- Size:
- 3,582 bases
- Orientation:
- Plus strand
Genomic View for POU4F2 Gene
Genes around POU4F2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q31.22 by Ensembl
- 4q31.2 by Entrez Gene
- 4q31.22 by HGNC
POU4F2 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 POU4F2 Gene
Proteins for POU4F2 Gene
-
Protein details for POU4F2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12837-PO4F2_HUMAN
- Recommended name:
- POU domain, class 4, transcription factor 2
- Protein Accession:
- Q12837
- B1PJR6
- B2RC84
- Q13883
- Q14987
Protein attributes for POU4F2 Gene
- Size:
- 409 amino acids
- Molecular mass:
- 43087 Da
- Quaternary structure:
- No Data Available
Protein Expression for POU4F2 Gene
Post-translational modifications for POU4F2 Gene
Other Protein References for POU4F2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for POU4F2
- Invitrogen Antibodies for POU4F2
- antibodies-online Antibodies for POU4F2: See all 34
- Search GeneTex for Antibodies for POU4F2
-
Santa Cruz Biotechnology (SCBT) Antibodies for POU4F2
Protein Products
-
OriGene Purified Proteins for POU4F2
- Search Origene for MassSpec and Protein Over-expression Lysates for POU4F2
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- Search GeneTex for Proteins for POU4F2
Assay Products
No data available for DME Specific Peptides for POU4F2 Gene
Domains & Families for POU4F2 Gene
Gene Families for POU4F2 Gene
Protein Domains for POU4F2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for POU4F2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12837UniProtKB/Swiss-Prot:
PO4F2_HUMAN :- The polyhistidine repeat acts as a targeting signal to nuclear speckles.
- Belongs to the POU transcription factor family. Class-4 subfamily.
- Domain:
-
- The polyhistidine repeat acts as a targeting signal to nuclear speckles.
- Contains 1 homeobox DNA-binding domain.
- Contains 1 POU-specific domain.
- Family:
-
- Belongs to the POU transcription factor family. Class-4 subfamily.
Function for POU4F2 Gene
Molecular function for POU4F2 Gene
- GENATLAS Biochemistry:
- POU domain,class 4,transcription factor 2,expressed in a subset of retinal ganglion cells
- UniProtKB/Swiss-Prot Function:
- Transcription factor. May play a role in determining or maintaining the identities of a small subset of visual system neurons.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001077 | transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA,IDA | 17637757 |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA,ISS | -- |
Phenotypes for POU4F2 Gene
- MGI mutant phenotypes for POU4F2:
- inferred from 11 alleles
- GenomeRNAi human phenotypes for POU4F2:
Animal Models for POU4F2 Gene
Animal Model Products
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-
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-
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CRISPR Products
-
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-
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miRNA for POU4F2 Gene
- miRTarBase miRNAs that target POU4F2
miRNA Products
- Search ViGene Biosciences for POU4F2
Inhibitory RNA Products
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-
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POU4F2 Gene
Localization for POU4F2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for POU4F2 Gene
- Nucleus speckle.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for POU4F2 Gene
More details on SuperPathways for POU4F2| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of TP53 Activity | ||
| 2 | Gene Expression |
.49
|
|
| 3 | Direct p53 effectors |
Pathways by source for POU4F2 Gene
1 BioSystems pathway for POU4F2 Gene
Interacting Proteins for POU4F2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | ISS | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0007409 | axonogenesis | IEA | -- |
| GO:0007605 | sensory perception of sound | IEA | -- |
| GO:0030182 | neuron differentiation | IEA,ISS | -- |
No data available for SIGNOR curated interactions for POU4F2 Gene
Transcripts for POU4F2 Gene
mRNA/cDNA for POU4F2 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (7) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for POU4F2
-
Santa Cruz Biotechnology (SCBT) CRISPR for POU4F2
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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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Flow Cytometry Products
Expression for POU4F2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Immature Ganglion Cells Ganglion Cell Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Ganglion Precursor Cells Ganglion Cell Layer
- Retinal cells(Eiraku M et. al. 2012)
-
Neurons
- Immature Ganglion Cells Ganglion Cell Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Ganglion Precursor Cells Ganglion Cell Layer
- Neural Tube (Nervous System)
- NULL (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for POU4F2 Gene
This gene is overexpressed in Testis (x32.8) and Brain - Substantia nigra (x11.0).
This gene is overexpressed in Lavage (68.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POU4F2 Gene
SOURCE GeneReport for Unigene cluster for POU4F2 Gene Hs.266
mRNA Expression by UniProt/SwissProt for POU4F2 Gene
Q12837-PO4F2_HUMAN
Tissue specificity:
Brain. Seems to be specific to the retina.
Primer Products
-
OriGene qPCR primer pairs for POU4F2
Orthologs for POU4F2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | POU4F2 35 |
|
||
| POU4F2 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | POU4F2 35 |
|
||
| POU4F2 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Pou4f2 35 |
|
||
| Pou4f2 16 |
|
||||
| Pou4f2 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | POU4F2 35 |
|
||
| POU4F2 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Pou4f2 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | POU4F2 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | POU4F2 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BRN3 36 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pou4f2 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pou4f2 35 |
|
||
| pou4f2 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | acj6 37 |
|
|
|
| acj6 36 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | unc-86 37 |
|
|
|
| unc-86 36 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany |
- Species with no ortholog for POU4F2:
-
- 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)
- lizard (Anolis carolinensis)
- 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)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- wheat (Triticum aestivum)
Paralogs for POU4F2 Gene
Paralogs for POU4F2 Gene
(6) SIMAP similar genes for POU4F2 Gene using alignment to 1 proteins:
Variants for POU4F2 Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs13152799 | - | 146,639,259(+) | TCCCA(C/T)CGCGC | reference, missense | |
| rs1504360 | -- | 146,639,540(-) | GGGAA(A/T)ATTGG | intron-variant | |
| rs1910595 | -- | 146,637,085(-) | AGCGC(G/T)CGACG | upstream-variant-2KB | |
| rs3762841 | -- | 146,637,998(-) | TACAC(A/G)CAGGC | upstream-variant-2KB | |
| rs3762842 | -- | 146,637,412(-) | CCCCG(C/G)GACCC | upstream-variant-2KB |
Residual Variation Intolerance Score:
32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.04;
75.08% of all genes are more intolerant (likely to be disease-causing)
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for POU4F2 Gene
Disorders for POU4F2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| wilms tumor susceptibility-5 |
|
Search POU4F2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for POU4F2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- POU4F2
No data available for UniProtKB/Swiss-Prot and Genatlas for POU4F2 Gene
Publications for POU4F2 Gene
- The human Brn-3b POU transcription factor shows only limited homology to the Brn-3a/RDC-1 factor outside the conserved POU domain. (PMID: 8332509) Ring C.J.A. … Latchman D.S. (Nucleic Acids Res. 1993) 2 3 4 67
- Proliferation-associated Brn-3b transcription factor can activate cyclin D1 expression in neuroblastoma and breast cancer cells. (PMID: 17637757) Budhram-Mahadeo V.S. … Latchman D.S. (Oncogene 2008) 3 23
- The Brn-3b POU family transcription factor represses plakoglobin gene expression in human breast cancer cells. (PMID: 16152597) Samady L. … Latchman D.S. (Int. J. Cancer 2006) 3 23
- Expression of the Brn-3b transcription factor correlates with expression of HSP-27 in breast cancer biopsies and is required for maximal activation of the HSP-27 promoter. (PMID: 15833836) Lee S.A. … Budhram-Mahadeo V.S. (Cancer Res. 2005) 3 23
- Activation of CDK4 gene expression in human breast cancer cells by the Brn-3b POU family transcription factor. (PMID: 14726699) Samady L. … Latchman D.S. (Cancer Biol. Ther. 2004) 3 23
Products for POU4F2 Gene
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Sources for POU4F2 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
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- (13) InterPro
- (14) ProtoNet
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- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
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- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
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- (64) Nature
- (65) NCBI
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- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
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- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
- (98) BitterDB
- (99) Vector BioLabs
- (100) ESI-BIO
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- (106) Illumina
- (107) COMPARTMENTS
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