PITX2 paired-like homeodomain 2 [Homo sapiens (human)]
| Gene Symbol | PITX2 |
| Entrez Gene ID | 5308 |
| Full Name | paired-like homeodomain 2 |
| Synonyms | ARP1, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, MGC111022, MGC20144, Otlx2, PTX2, RGS, RIEG, RIEG1, RS |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
4 4q25 |
| 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]. |
| Disorder | MIM: 601542 Axenfeld-Rieger syndrome, type 1, 180500 (3); Iridogoniodysgenesis, |
| mRNA | NM_001204397, 324710991 |
| Protein | NP_001191326, 324710992 |
| Product | pituitary homeobox 2 isoform b |
| RefSeq Status | REVIEWED |
| mRNA | NM_001204398, 324710993 |
| Protein | NP_001191327, 324710994 |
| Product | pituitary homeobox 2 isoform b |
| RefSeq Status | REVIEWED |
| mRNA | NM_153426, 324711005 |
| Protein | NP_700475, 24234708 |
| Product | pituitary homeobox 2 isoform b |
| RefSeq Status | REVIEWED |
| mRNA | NM_000325, 152963645 |
| Protein | NP_000316, 21361183 |
| Product | pituitary homeobox 2 isoform c |
| RefSeq Status | REVIEWED |
| mRNA | NM_153427, 324711006 |
| Protein | NP_700476, 24234711 |
| Product | pituitary homeobox 2 isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_001204399, 324710995 |
| Protein | NP_001191328, 324710996 |
| Product | pituitary homeobox 2 isoform a |
| RefSeq Status | REVIEWED |
| hsa04350 | TGF-beta signaling pathway |
WikiPathways
| WP1591 | Heart Development |
Pathway Interaction Database
| wnt_beta_catenin_pathway | Regulation of Wnt-mediated beta catenin signaling and target gene transcription |
| Homo sapiens (human) | PITX2 | NP_000316.2 |
| Pan troglodytes (chimpanzee) | PITX2 | XP_001141234.1 |
| Canis lupus familiaris (dog) | PITX2 | XP_851370.1 |
| Bos taurus (cattle) | PITX2 | NP_001091460.1 |
| Mus musculus (house mouse) | Pitx2 | NP_001035967.1 |
| Rattus norvegicus (Norway rat) | Pitx2 | NP_062207.1 |
| Gallus gallus (chicken) | PITX2 | NP_990341.1 |
| Danio rerio (zebrafish) | pitx2 | NP_571050.1 |
| Drosophila melanogaster (fruit fly) | Ptx1 | NP_001138130.1 |
| Caenorhabditis elegans | unc-30 | NP_001021276.1 |
| ID | Name | Evidence |
| GO:0006351 | transcription, DNA-dependent | IDA |
| GO:0006355 | regulation of transcription, DNA-dependent | IDA |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0007368 | determination of left/right symmetry | TAS |
| GO:0009887 | organ morphogenesis | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005667 | transcription factor complex | IDA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IEA |
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