Aliases for PITX2 Gene
External Ids for PITX2 Gene
Previous HGNC Symbols for PITX2 Gene
Previous GeneCards Identifiers for PITX2 Gene
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, Jul 2008]
GeneCards Summary for PITX2 Gene
PITX2 (Paired-Like Homeodomain 2) is a Protein Coding gene. Diseases associated with PITX2 include iris hypoplasia and axenfeld-rieger syndrome, type 1. Among its related pathways are Heart Development and Integrated Pancreatic Cancer Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is PITX3.
UniProtKB/Swiss-Prot for PITX2 Gene
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).