Products

Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

PITX2

Gene Alias

ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, MGC111022, MGC20144, Otlx2, PTX2, RGS, RIEG, RIEG1, RS

Gene Description

paired-like homeodomain 2

Omim ID

Gene Ontology

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

Other Designations

OTTHUMP00000163736|all1-responsive gene 1|paired-like homeodomain transcription factor 2|pituitary homeo box 2|rieg bicoid-related homeobox transcription factor 1|solurshin