POU3F2 Chromosome 6

POU class 3 homeobox 2

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in POU3F2.

What This Gene Does

This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]

Gene Info

Gene Group

POU class homeoboxes and pseudogenes

Locus Type

gene with protein product

Location

6q16.1

Ensembl

ENSG00000184486

Associated Conditions (1)

POU3F2-associated disorder

Key Variants

RS1769989432

Likely pathogenic

POU3F2-associated disorder, POU3F2-associated disorder

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1769989432	Health Risk	Likely pathogenic	POU3F2-associated disorder, POU3F2-associated disorder