Entrez gene ID | | 5308 |
Official gene symbol | | PITX2 |
Full name | | paired-like homeodomain 2 |
Aliases | | ,ARP1,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,MGC111022,MGC20144,Otlx2,PTX2,RGS,RIEG,RIEG1,RS, |
Gene summary | | 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] |
Location | | Chromosome: 4 Locus: 4q25-q27 |
Gene position | | 111558508 - 111538579 Map Viewer |
Gene orientation | | minus |
Gene size | | 19930 bp |
Gene sequence |
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OMIM ID | | 601542 |
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