paired like homeodomain 2

Summary
Gene Symbol
  • PITX2
Organism
Homo sapiens (human)
NCBI Gene
5308
PubChem
5308
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • DNA-binding
  • Developmental protein
  • Disease variant
  • Homeobox
  • Nucleus
  • Peters anomaly
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q99697
  • ALL1-responsive protein ARP1
  • Homeobox protein PITX2
  • Paired-like homeodomain transcription factor 2
  • RIEG bicoid-related homeobox transcription factor
  • Solurshin
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
homeobox
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • K: Transcription
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0050647 Arts syndrome
DOID:0080609 anterior segment dysgenesis 4
DOID:0110120 Axenfeld-Rieger syndrome type 1
DOID:0111548 ring dermoid of cornea
DOID:1459 hypothyroidism
DOID:14686 Axenfeld-Rieger syndrome
DOID:1686 glaucoma
DOID:898 autosomal dominant polycystic kidney disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024