Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PITX2

paired like homeodomain 2

Chromosome
4
Cytoband
4q25
Variants (rsID)
6

PITX2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q25). Its official name is “paired like homeodomain 2”. The reference table lists 6 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs6533526Benignsingle nucleotide variantAnterior segment dysgenesis 1|PITX2-Related Eye Abnormalities|Cataract|Ring dermoid of cornea|Irido-corneo-trabecular dysgenesis|Hypoplasia of the iris|Axenfeld-Rieger syndrome type 1
  • rs141176394Conflicting interpretationssingle nucleotide variantPITX2-Related Eye Abnormalities|Irido-corneo-trabecular dysgenesis|Ring dermoid of cornea|Hypoplasia of the iris|Axenfeld-Rieger syndrome type 1|Cataract|Anterior segment dysgenesis 1|Anterior segment dysgenesis 4|Axenfeld-Rieger syndrome type 1
  • rs104893861Pathogenicsingle nucleotide variantAnterior segment dysgenesis 4

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.