POU domain class 6 transcription factor 2 (retina-derived POU-domain factor 1, Wilms tumor suppressor locus protein, RPF-1, POU6F2 RPF1, WTSL)

Function

• transcription factor
• role in differentiation of amacrine & ganglion cells
• recognizes & binds to the DNA sequence 5'-ATGCAAAT-3'
• isoform 1 does not bind DNA

Structure

• contains 1 homeobox DNA-binding domain
• contains 1 POU-specific domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

• expressed only within the CNS, expression is restricted to:
  • medial habenulla
  • a dispersed population of neurons in the dorsal hypothalamus
  • subsets of ganglion & amacrine cells in the retina

Pathology

• defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5

More general terms

• transcription factor (TF)

Database

• OMIM: https://mirror.omim.org/entry/601583
• UniProt: http://www.uniprot.org/uniprot/P78424.html