| 同義語: | PITX2, ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS |
| バックグラウンド: | 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. |
| UniProt Protein Function: | Controls cell proliferation in a tissue-specific manner and is involved 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 and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo. |
| NCBI 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, Jul 2008] |
| UniProt Code: | Q99697 |
| NCBI GenInfo Identifier: | 6174907 |
| NCBI Gene ID: | 5308 |
| NCBI Accession: | Q99697.2 |
| UniProt Secondary Accession: | Q99697,O60578, O60579, O60580, Q3KQX9, Q9BY17, A8K6C6 B2RA02, B3KXS0, |
| UniProt Related Accession: | Q99697 |
| Molecular Weight: | 30,336 Da |
| NCBI Full Name: | Pituitary homeobox 2 |
| NCBI Synonym Full Names: | paired like homeodomain 2 |
| NCBI Official Symbol: | PITX2 |
| NCBI Official Synonym Symbols: | RS; RGS; ARP1; Brx1; IDG2; IGDS; IHG2; PTX2; RIEG; IGDS2; IRID2; Otlx2; RIEG1 |
| NCBI Protein Information: | pituitary homeobox 2 |
| UniProt Protein Name: | Pituitary homeobox 2 |
| UniProt Synonym Protein Names: | ALL1-responsive protein ARP1; Homeobox protein PITX2; Paired-like homeodomain transcription factor 2; RIEG bicoid-related homeobox transcription factor; Solurshin |
| Protein Family: | Pituitary homeobox |
| UniProt Gene Name: | PITX2 |
| UniProt Entry Name: | PITX2_HUMAN |
