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PITX2 - paired like homeodomain 2
- Synonym(s) : ARP1, Brx1, IGDS, Otlx2, RS
- Previous symbols and names : IHG2, IRID2, RGS, RIEG, RIEG1, paired-like homeodomain 2, paired-like homeodomain transcription factor 2
- Type : gene with protein product
- Chromosomal location : 4q25
- OMIM: 601542
- HGNC: 9005
- UniProtKB: Q99697
- Genatlas: PITX2
- Ensembl: ENSG00000164093
- IUPHAR-DB: -
- Reactome: Q99697
- LOVD: PITX2
Diseases list
- Disease-causing germline mutation(s) in Axenfeld anomaly
ORPHA:98978 
- Disease-causing germline mutation(s) in Rieger anomaly
ORPHA:91483 - Disease-causing germline mutation(s) in Ring dermoid of cornea
ORPHA:91481 - Disease-causing germline mutation(s) (loss of function) in Axenfeld-Rieger syndrome
ORPHA:782 - Disease-causing germline mutation(s) (loss of function) in Familial atrial fibrillation
ORPHA:334 - Disease-causing germline mutation(s) (gain of function) in Axenfeld-Rieger syndrome
ORPHA:782 - Candidate gene tested in Peters anomaly
ORPHA:708
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.