POU6F2 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | POU6F2 |
| Official Name | POU class 6 homeobox 2 [Source:HGNC Symbol;Acc:HGNC:21694] |
| Ensembl ID | ENSG00000106536 |
| Bio databases IDs | |
| Aliases | POU class 6 homeobox 2, Retina-derived POU-domain factor-1 |
| Synonyms | D130006K24RIK, LOC678795, POU class 6 homeobox 2, POU domain, class 6, transcription factor 2, RPF-1, WT5, WTSL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POU6F2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Pou domain - N-terminal to homeobox domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- protein binding
- transcription factor activity
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- open-angle glaucoma
- Wilms tumor 5
- adenoid cystic carcinoma
- Dupuytren contracture
- metastasis
- metabolic syndrome X
- refractive error
- insomnia
- schizophrenia
regulated by
- TAF7L
- cantharidin
- 2-amino-5-phosphonovaleric acid
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POU6F2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- regulation of transcription, DNA-dependent
- visual perception
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity