Protein: PITX2_HUMAN
Pituitary homeobox 2
SUBCELLULAR LOCATION: Nucleus.
ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=PTX2B; Synonyms=ARP1B; IsoId=Q99697-1; Sequence=Displayed; Name=PTX2C; Synonyms=ARP1C; IsoId=Q99697-2; Sequence=VSP_002260; Name=PTX2A; Synonyms=ARP1A; IsoId=Q99697-3; Sequence=VSP_002261;
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";
GENE SYNONYMS: ARP1 RGS RIEG RIEG1.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- PITX2
Synonyms:
- Homeobox protein PITX2
- ALL1-responsive protein ARP1
- RIEG bicoid-related homeobox transcription factor
- Paired-like homeodomain transcription factor 2
- Solurshin
Links:
- Entrez Gene: 5308
- RefSeq Protein: NP_000316
- RefSeq Protein: NP_001191326
- RefSeq Protein: NP_001191327
- RefSeq Protein: NP_001191328
- RefSeq Protein: NP_700475
- RefSeq Protein: NP_700476
- UniProt: B2RA02
- UniProt: B3KXS0
- UniProt: O60578
- UniProt: O60579
- UniProt: O60580
- UniProt: Q3KQX9
- UniProt: Q99697
- UniProt: Q9BY17
Stable Link:
- Link to this page
Link to this pagePaste link in email or IM:Paste HTML to embed in website:
FUNCTION: May play an important role in development and maintenance of anterior structures. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity). more...