PITX2 Chromosome 4
Paired like homeodomain 2
Upload your DNA to see your personal genotypes for variants in PITX2.
What This Gene Does
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]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000164093
Associated Conditions (22)
Axenfeld-Rieger syndrome type 1
Inborn genetic diseases
Anterior segment dysgenesis 4
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris
PITX2-Related Eye Abnormalities
Ring dermoid of cornea
Cataract
Atrial fibrillation
familial
1
PITX2-related disorder
Uterine carcinosarcoma
Intellectual disability
Anterior segment dysgenesis
Rieger anomaly
ANTERIOR SEGMENT DYSGENESIS 4
PETERS ANOMALY SUBTYPE
Axenfeld-Rieger anomaly with partially absent eye muscles
distinctive face
+2 more conditions
Key Variants
RS104893859
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 1, Inborn genetic diseases, Axenfeld-Rieger syndrome type 1
Health Risk
RS111733107
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 1, Irido-corneo-trabecular dysgenesis, Hypoplasia of the iris
Health Risk
RS117231596
Conflicting classifications of pathogenicity
PITX2-Related Eye Abnormalities, Hypoplasia of the iris, Cataract
Health Risk
RS138163892
Conflicting classifications of pathogenicity
Atrial fibrillation, familial, 1
Health Risk
RS139401187
Conflicting classifications of pathogenicity
Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
Health Risk
RS140614517
Conflicting classifications of pathogenicity
Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 4
Health Risk
RS141176394
Conflicting classifications of pathogenicity
Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities, Hypoplasia of the iris
Health Risk
RS145044365
Conflicting classifications of pathogenicity
Cataract, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities
Health Risk
RS149288560
Conflicting classifications of pathogenicity
Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
Health Risk
RS201628949
Conflicting classifications of pathogenicity
Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris, Irido-corneo-trabecular dysgenesis
Health Risk
RS368647502
Conflicting classifications of pathogenicity
Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities
Health Risk
RS535056127
Conflicting classifications of pathogenicity
PITX2-Related Eye Abnormalities, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2476649405 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476650692 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476650732 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476651963 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476656626 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476657038 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476657179 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS2476657335 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476657637 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS2476658099 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476658161 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476658214 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529772680 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529773041 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529773071 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529773117 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529773540 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS387906810 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS765382079 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS104893862 | Health Risk | Pathogenic/Likely pathogenic | Ring dermoid of cornea, Anterior segment dysgenesis, Axenfeld-Rieger syndrome type 1 |
| RS1553922583 | Health Risk | Pathogenic/Likely pathogenic | ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE, Axenfeld-Rieger syndrome type 1 |
| RS2110435742 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS2476650016 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly |
| RS772800095 | Health Risk | Pathogenic/Likely pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS951710742 | Health Risk | Pathogenic/Likely pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |