Gene: PITX2

Alternate names for this Gene: ARP1|ASGD4|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q25

Description of this Gene: paired like homeodomain 2

Type of Gene: protein-coding

rs2595104 in PITX2 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs104893857 in PITX2 gene and Axenfeld-Rieger Syndrome, Type 1 PMID 16936096 2006 Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

PMID 8944018 1996 Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.

PMID 12381896 2003 Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome.

PMID 11487566 2001 Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.

PMID 10937553 2000 Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

rs104893861 in PITX2 gene and IRIDOGONIODYSGENESIS, TYPE 2 PMID 9437321 1998 Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

PMID 10051017 1999 A mutation in the RIEG1 gene associated with Peters' anomaly.

PMID 20881294 2011 Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PMID 9618168 1998 Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

rs104893862 in PITX2 gene and RING DERMOID OF CORNEA PMID 15591271 2004 Mutation in PITX2 is associated with ring dermoid of the cornea.

PMID 22224469 2012 Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.