Human Gene PITX2 (ENST00000644743.1) from GENCODE V43
Description: Homo sapiens paired like homeodomain 2 (PITX2), transcript variant 3, mRNA. (from RefSeq NM_000325) RefSeq Summary (NM_000325): 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]. Gencode Transcript: ENST00000644743.1 Gencode Gene: ENSG00000164093.18 Transcript (Including UTRs) Position: hg38 chr4:110,617,423-110,623,077 Size: 5,655 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr4:110,618,125-110,622,460 Size: 4,336 Coding Exon Count: 3
ID:PITX2_HUMAN DESCRIPTION: RecName: Full=Pituitary homeobox 2; AltName: Full=ALL1-responsive protein ARP1; AltName: Full=Homeobox protein PITX2; AltName: Full=Paired-like homeodomain transcription factor 2; AltName: Full=RIEG bicoid-related homeobox transcription factor; AltName: Full=Solurshin; 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 (By similarity). INTERACTION: Q12948:FOXC1; NbExp=6; IntAct=EBI-1175243, EBI-1175253; SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1 (By similarity). DISEASE: Defects in PITX2 are the cause of Axenfeld-Rieger syndrome type 1 (RIEG1) [MIM:180500]; also known as Rieger syndrome type 1. RIEG1 is an autosomal dominant defect characterized by hypodontia (partial anodontia), anal stenosis, hypertelorism, mental deficiency, agenesis of the facial bones, with malformation of the anterior chamber of the eye. DISEASE: Defects in PITX2 are the cause of iridogoniodysgenesis type 2 (IRID2) [MIM:137600]; also known as iridogoniodysgenesis syndrome 2 (IGDS2). It is an autosomal dominant inherited disease. DISEASE: Defects in PITX2 are a cause of Peters anomaly (PAN) [MIM:604229]. It is a congenital defect of the anterior chamber of the eye. DISEASE: Defects in PITX2 are associated with ring dermoid of cornea (RDC) [MIM:180550]. RDC is an autosomal dominantly inherited syndrome characterized by bilateral annular limbal dermoids with corneal and conjunctival extension. SIMILARITY: Belongs to the paired homeobox family. Bicoid subfamily. SIMILARITY: Contains 1 homeobox DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PITX2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99697
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-8866906 TFAP2 (AP-2) family regulates transcription of other transcription factors R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)