PITX2

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq]

paired-like homeodomain 2

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).

Anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Camera-type eye developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Cardiac neural crest cell migration involved in outflow tract morphogenesisISS:BHF-UCL
Cell proliferation involved in outflow tract morphogenesisISS:BHF-UCL
Deltoid tuberosity developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of left/right symmetryISS:BHF-UCL
Embryonic heart tube left/right pattern formationISS:BHF-UCL
Hair cell differentiation1 PublicationIC:BHF-UCL
Iris morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Left/right axis specificationISS:BHF-UCL
Negative regulation of transcription by RNA polymerase IIIDA:BHF-UCL
OdontogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Prolactin secreting cell differentiationManual Assertion Based On ExperimentTAS:BHF-UCL
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:MGI
Regulation of transcription, DNA-templatedIDA:UniProtKB
Somatotropin secreting cell differentiationManual Assertion Based On ExperimentTAS:BHF-UCL
Spleen developmentISS:BHF-UCL

Nucleus

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.
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.
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.

Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.