Gene

pitx2

ID
ZDB-GENE-990714-27
Name
paired-like homeodomain 2
Symbol
pitx2 Nomenclature History
Previous Names
  • pitx2a
  • pitx2b
  • pitx2c
  • zpitx2c
  • zgc:110508
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II transcription factor binding activity. Involved in several processes, including animal organ development; face morphogenesis; and prechordal plate formation. Predicted to localize to nucleus. Is expressed in several structures, including brain; dental epithelium; digestive system; head; and mesoderm. Used to study Axenfeld-Rieger syndrome. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2).
Genome Resources
Note
None
Expression
All Expression Data
116 figures from 89 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
29 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pitx2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
anterior segment dysgenesis 4 Alliance Anterior segment dysgenesis 4 137600
Axenfeld-Rieger syndrome type 1 Alliance Axenfeld-Rieger syndrome, type 1 180500
iridogoniodysgenesis syndrome Alliance Anterior segment dysgenesis 4 137600
ring dermoid of cornea Alliance Ring dermoid of cornea 180550
Associated With pitx2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeobox domain
Domain IPR003654 OAR domain
Family IPR016233 Homeobox protein Pitx/unc30
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox-like domain superfamily Homeobox protein Pitx/unc30 OAR domain
UniProtKB:Q9W5Z2 314
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations