POU6F2 Chromosome 7
POU class 6 homeobox 2
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What This Gene Does
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]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
7p14.1
Ensembl
ENSG00000106536
Associated Conditions (3)
Hypogonadotropic hypogonadism
POU6F2-related disorder
Wilms tumor 5
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145961110 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism, POU6F2-related disorder, Hypogonadotropic hypogonadism |
| RS121918261 | Health Risk | Pathogenic | Wilms tumor 5, Wilms tumor 5 |
| RS2116574924 | Health Risk | Pathogenic | Wilms tumor 5, Wilms tumor 5 |