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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PITX2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5308
Official gene symbolPITX2
Full namepaired-like homeodomain 2
Aliases,ARP1,Brx1,IDG2,IGDS,IGDS2,IHG2,IRID2,MGC111022,MGC20144,Otlx2,PTX2,RGS,RIEG,RIEG1,RS,
Gene summaryThis 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]
LocationChromosome: 4   Locus: 4q25-q27
Gene position111558508 - 111538579  Map Viewer
Gene orientationminus
Gene size19930 bp
Gene sequence
OMIM ID601542