Pitx2 - paired-like homeodomain 2

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including animal organ development; positive regulation of transcription by RNA polymerase II; and response to vitamin A. Located in nucleus. Biomarker of autosomal dominant polycystic kidney disease and hypothyroidism. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). [provided by Alliance of Genome Resources, Apr 2022]