| UniProt Protein Function: | POU6F2: 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. Defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5 (WT5). WT5 is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. Belongs to the POU transcription factor family. Class- 6 subfamily. 2 isoforms of the human protein are produced by alternative splicing.Protein type: DNA-binding; Cell development/differentiation; Transcription factorChromosomal Location of Human Ortholog: 7p14.1Cellular Component: nucleusMolecular Function: transcription factor activityBiological Process: central nervous system development; ganglion mother cell fate determination; regulation of transcription, DNA-dependent; visual perceptionDisease: Wilms Tumor 5 |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | P78424 |
| NCBI GenInfo Identifier: | 327478564 |
| NCBI Gene ID: | 11281 |
| NCBI Accession: | P78424.3 |
| UniProt Secondary Accession: | P78424,P78425, Q75ME8, Q86UM6, Q9UDS7, A4D1W2, C4AMB9 |
| UniProt Related Accession: | P78424 |
| Molecular Weight: | 69,248 Da |
| NCBI Full Name: | POU domain, class 6, transcription factor 2 |
| NCBI Synonym Full Names: | POU class 6 homeobox 2 |
| NCBI Official Symbol: | POU6F2Â Â |
| NCBI Official Synonym Symbols: | WT5; WTSL; RPF-1Â Â |
| NCBI Protein Information: | POU domain, class 6, transcription factor 2 |
| UniProt Protein Name: | POU domain, class 6, transcription factor 2 |
| UniProt Synonym Protein Names: | Retina-derived POU domain factor 1; RPF-1 |
| Protein Family: | POU domain, class 6, transcription factor |
| UniProt Gene Name: | POU6F2Â Â |
| UniProt Entry Name: | PO6F2_HUMAN |
