PITX3
Paired Like Homeodomain 3 Transcription Factor
Gene Information Card
| Symbol | PITX3 |
|---|---|
| Full Name | Paired Like Homeodomain 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 5309 ncbi.nlm.nih.gov/gene/5309 |
| Ensembl ID | ENSG00000142192 |
| UniProt ID | O75364 |
| OMIM ID | 602669 |
| HGNC ID | 9006 |
| Aliases | CTPP4, PTX3, ASGD2, CTPP, CORD5, CTRCT11, IRID1, PD-3 |
Description
PITX3 encodes a member of the RIEG/PITX homeobox family, which is a transcription factor critical for embryonic development, particularly of the eye. It regulates the formation of the lens, anterior segment, and other ocular structures. Mutations in PITX3 are associated with autosomal dominant congenital cataracts, anterior segment dysgenesis, and Axenfeld-Rieger syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital cataract (CTRCT11) | Loss-of-function or dominant-negative mutations disrupt lens development | OMIM #610623 |
| Anterior segment dysgenesis 2 (ASGD2) | Missense or frameshift mutations impair transcription factor activity | OMIM #610256 |
| Axenfeld-Rieger syndrome (IRID1) | Heterozygous mutations cause abnormal anterior chamber development | OMIM #180500 |
| Posterior polar cataract (CTPP) | Specific missense mutations (e.g., p.Ser13Asn) lead to cataract formation | OMIM #605387 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | Tissue-specific |
| Retina | Moderate | Tissue-specific |
| Cornea | Low | Tissue-specific |
| Brain | Low | Ubiquitous |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Low | Limited expression |
| HLE-B3 (human lens epithelial) | High | Model for lens studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256G>A (p.Gly86Arg) | Missense | Rare | Dominant-negative; associated with ASGD2 |
| c.38C>A (p.Ser13Asn) | Missense | Rare | Gain-of-function?; posterior polar cataract |
| c.650delC (p.Pro217Leufs*51) | Frameshift | Rare | Loss-of-function; congenital cataract |
| c.640C>T (p.Arg214Trp) | Missense | Rare | Dominant-negative; Axenfeld-Rieger syndrome |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein and haploinsufficiency.
Gain of Function (GOF)
Not well established; some missense mutations may alter DNA-binding specificity.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Gly86Arg) interfere with wild-type PITX3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Eye development (Reactome: R-HSA-1474244)
• Transcriptional regulation by PITX3 (KEGG: hsa04310)
Protein Summary
PITX3 is a 302-amino acid homeodomain transcription factor that binds DNA via its paired-like homeodomain. It is essential for lens and anterior segment development, regulating genes involved in cell proliferation and differentiation. The protein localizes to the nucleus and interacts with co-factors to modulate transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PITX3 Knockout HEK293 Cell Line | EDJ-KQ5469 | Human | 5309 | Details Get a Quote |
| PITX3 Knockout HCT 116 Cell Line | EDJ-KQ28674 | Human | 5309 | Details Get a Quote |
| PITX3 Knockout HeLa Cell Line | EDJ-KQ54146 | Human | 5309 | Details Get a Quote |
| PITX3 Knockout A-549 Cell Line | EDJ-KQ62638 | Human | 5309 | Details Get a Quote |
