pituitary homeobox 2; ALL1-responsive protein ARP1; homeobox protein PITX2; paired-like homeodomain transcription factor 2; RIEG bicoid-related homeobox transcription factor; solurshin (PITX2, ARP1, RGS, RIEG, RIEG1)
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Function
- Wnt/beta-catenin pathway induces transcription of Pitx2 & also stabilizes Pitx2 mRNA[1]
- controls cell proliferation in a tissue-specific manner
- role 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 & stomach
- isoform PTX2C is involved in left-right asymmetry the developing embryo (putative)
- phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1 (putative)
Structure
- belongs to the paired homeobox family, Bicoid subfamily
- contains 1 homeobox DNA-binding domain
Compartment
Alternative splicing
named isoforms=3; PTX2B, PTX2C, PTX2A
Pathology
- mutations associated with
- Rieger syndrome, type 1
- iridogoniodysgenesis, type 2 (IGDS2) or iridogoniodysgenesis syndrome (IGDS)
- Peters anomaly
- ring dermoid of cornea
- Rieger syndrome, type 1
More general terms
References
- ↑ 1.0 1.1 Briata P et al. The Wnt/beta-catenin-->Pitx2 pathway controls the turnover of Pitx2 and other unstable mRNAs. PMID: https://www.ncbi.nlm.nih.gov/pubmed/14636578 Molecular Cell 12:1201-1211, 2003
- ↑ UniProt http://www.uniprot.org/uniprot/Q15475.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/PITX2
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5308
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5308
- OMIM: https://mirror.omim.org/entry/137600
- OMIM: https://mirror.omim.org/entry/180500
- OMIM: https://mirror.omim.org/entry/180550
- OMIM: https://mirror.omim.org/entry/601542
- OMIM: https://mirror.omim.org/entry/604229
- UniProt: http://www.uniprot.org/uniprot/Q99697.html