orthodenticle homeobox 2

Summary
Gene Symbol
  • OTX2
Organism
Homo sapiens (human)
NCBI Gene
5015
PubChem
5015
Alliance of Genome Resources
JoGo
OTX2
TogoVar
OTX2
Annotation
Keyword
  • Alternative splicing
  • DNA-binding
  • Developmental protein
  • Disease variant
  • Homeobox
  • Microphthalmia
  • Nucleus
  • Proteomics identification
  • Reference proteome
Proteins
Displaying all 4 entries
UniProt Protein Name
F1T0C9
F1T0D1
F1T0D0
P32243
  • Orthodenticle homolog 2
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Homeobox domain-containing protein
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0111806 syndromic microphthalmia 5
DOID:9410 combined pituitary hormone deficiency

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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: April 6, 2026