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 |
|---|---|---|---|
| RS104893859 | Health Risk | Conflicting classifications of pathogenicity | Axenfeld-Rieger syndrome type 1, Inborn genetic diseases, Axenfeld-Rieger syndrome type 1 |
| RS111733107 | Health Risk | Conflicting classifications of pathogenicity | Axenfeld-Rieger syndrome type 1, Irido-corneo-trabecular dysgenesis, Hypoplasia of the iris |
| RS117231596 | Health Risk | Conflicting classifications of pathogenicity | PITX2-Related Eye Abnormalities, Hypoplasia of the iris, Cataract |
| RS138163892 | Health Risk | Conflicting classifications of pathogenicity | Atrial fibrillation, familial, 1 |
| RS139401187 | Health Risk | Conflicting classifications of pathogenicity | Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS140614517 | Health Risk | Conflicting classifications of pathogenicity | Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 4 |
| RS141176394 | Health Risk | Conflicting classifications of pathogenicity | Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities, Hypoplasia of the iris |
| RS145044365 | Health Risk | Conflicting classifications of pathogenicity | Cataract, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities |
| RS149288560 | Health Risk | Conflicting classifications of pathogenicity | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS201628949 | Health Risk | Conflicting classifications of pathogenicity | Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris, Irido-corneo-trabecular dysgenesis |
| RS368647502 | Health Risk | Conflicting classifications of pathogenicity | Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities |
| RS535056127 | Health Risk | Conflicting classifications of pathogenicity | PITX2-Related Eye Abnormalities, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS551209662 | Health Risk | Conflicting classifications of pathogenicity | Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities, Cataract |
| RS985015612 | Health Risk | Conflicting classifications of pathogenicity | Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 4 |
| RS1057519485 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS121909249 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1553922891 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS1729003669 | Health Risk | Likely pathogenic | Anterior segment dysgenesis 4, Anterior segment dysgenesis 4 |
| RS2110435639 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2110435882 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2476656556 | Health Risk | Likely pathogenic | — |
| RS2476658147 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS2529773049 | Health Risk | Likely pathogenic | PITX2-related disorder, PITX2-related disorder |
| RS2529773099 | Health Risk | Likely pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893857 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893858 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893860 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS104893861 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Anterior segment dysgenesis 4 |
| RS1051887 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS1057519483 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1057519484 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1057519487 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1057519488 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1057519489 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1198152064 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS121909248 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Anterior segment dysgenesis, Anterior segment dysgenesis 4 |
| RS1553922901 | Health Risk | Pathogenic | Rieger anomaly, Rieger anomaly |
| RS1560590094 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1578446544 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1578450728 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1728848951 | Health Risk | Pathogenic | — |
| RS1728873590 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1728875550 | Health Risk | Pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis |
| RS1728998905 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1 |
| RS1729000976 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1729001104 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS1729007624 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |
| RS2110431524 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 |
| RS2110432091 | Health Risk | Pathogenic | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Inborn genetic diseases |
| RS2110435645 | Health Risk | Pathogenic | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 |