PITX2
Function
May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation.
Isoform PTX2C
Involved in the establishment of left-right asymmetry in the developing embryo.
Involvement in disease
Axenfeld-Rieger syndrome 1
RIEG1
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
None
The disease is caused by variants affecting the gene represented in this entry.
Anterior segment dysgenesis 4
ASGD4
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Ring dermoid of cornea
RDC
An ocular disorder characterized by bilateral annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated at Thr-90 by AKT2, but not AKT1. Phosphorylation impairs its association with a CCND1 mRNA-stabilizing complex, thus shortening the half-life of CCND1.
Sequence Similarities
Belongs to the paired homeobox family. Bicoid subfamily.
Cellular localization
- Nucleus
- Cytoplasm
Alternative names
ARP1, RGS, RIEG, RIEG1, PITX2, Pituitary homeobox 2, ALL1-responsive protein ARP1, Homeobox protein PITX2, Paired-like homeodomain transcription factor 2, RIEG bicoid-related homeobox transcription factor, Solurshin
Database links
swissprot:Q99697 swissprot:Q3KQX9 omim:601542 entrezGene:5308