POU6F2 POU class 6 homeobox 2 [Homo sapiens (human)]
| Gene Symbol | POU6F2 |
| Entrez Gene ID | 11281 |
| Full Name | POU class 6 homeobox 2 |
| Synonyms | RPF-1, WT5, WTSL |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
7 7p14.1 |
| 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. |
| Disorder | MIM: 609062 {Wilms tumor susceptibility-5}, 601583 (3) |
| mRNA | NM_007252, 260436856 |
| Protein | NP_009183, 157743257 |
| Product | POU domain, class 6, transcription factor 2 isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001166018, 260436857 |
| Protein | NP_001159490, 260436858 |
| Product | POU domain, class 6, transcription factor 2 isoform 2 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | POU6F2 | NP_009183.3 |
| Pan troglodytes (chimpanzee) | POU6F2 | XP_527726.2 |
| Canis lupus familiaris (dog) | POU6F2 | XP_540368.2 |
| Bos taurus (cattle) | POU6F2 | NP_001095516.1 |
| Mus musculus (house mouse) | Pou6f2 | NP_778171.1 |
| Rattus norvegicus (Norway rat) | Pou6f2 | XP_001055787.1 |
| Gallus gallus (chicken) | POU6F2 | XP_418861.2 |
| Danio rerio (zebrafish) | LOC100001518 | XP_001341496.3 |
| Drosophila melanogaster (fruit fly) | pdm3 | NP_610377.1 |
| ID | Name | Evidence |
| GO:0006355 | regulation of transcription, DNA-dependent | TAS |
| GO:0006366 | transcription from RNA polymerase II promoter | TAS |
| GO:0007402 | ganglion mother cell fate determination | TAS |
| GO:0007417 | central nervous system development | TAS |
| GO:0007601 | visual perception | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IC |
| GO:0005634 | nucleus | IDA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | TAS |
| GO:0043565 | sequence-specific DNA binding | IEA |
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