Orthodenticle homeobox 2

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Orthodenticle homeobox 2
Protein OTX2 PDB 2dms.png
PDB rendering based on 2dms.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols OTX2 ; CPHD6; MCOPS5
External IDs OMIM600037 MGI97451 HomoloGene11026 GeneCards: OTX2 Gene
RNA expression pattern
PBB GE OTX2 gnf1h00384 at tn.png
More reference expression data
Species Human Mouse
Entrez 5015 18424
Ensembl ENSG00000165588 ENSMUSG00000021848
UniProt P32243 P80206
RefSeq (mRNA) NM_001270523 NM_144841
RefSeq (protein) NP_001257452 NP_659090
Location (UCSC) Chr 14:
57.27 – 57.28 Mb
Chr 14:
48.66 – 48.67 Mb
PubMed search [1] [2]

Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.[1][2]


This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined.[2]

Otx2 is a group of homeobox genes that are typically described as a head organizer in the primitive streak stage of embryonic development. Otx2, which is an encoded protein that plays the role of a transcription factor, has also been shown to be involved in the regional patterning of the midbrain and forebrain. This group of genes demonstrates later in progression to have an influence on the formation of the sensory organs, pituitary gland, pineal gland, inner ear, eye and optic nerve. Otx2 not only has a prominent role in developing this area but also aids in insuring that the retina and brain stay intact. This group of genes has a huge role in development and if it is expressed incorrectly it can have detrimental effects on the fetus. Otx2 mutations have also been associated with seizures, developmental delays, short stature, structural abnormalities of the pituitary gland, and an early onset of degeneration of the retina. A “knockout” model on the group of Otx2 genes has been performed to see what effects it would have on the adult retina. It was found that without the Otx2 gene expression there was slow degeneration of photoreceptor cells in this area. Thus, proving that the homeobox genes of Otx2 are essential in forming a viable embryo.

Clinical significance[edit]

Mutations in OTX2 can cause eye disorders including anophthalmia and microphthalmia.[3]

It has been shown that if Otx2 is over expressed it can lead to childhood malignant brain tumors called medulloblastomas.

Duplication of OTX2 cause Hemifacial Microsomia .[4]


  1. ^ Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, Faiella A, Boncinelli E (Dec 1994). "Chromosome locations of human EMX and OTX genes". Genomics 22 (1): 41–5. doi:10.1006/geno.1994.1343. PMID 7959790. 
  2. ^ a b "Entrez Gene: OTX2 orthodenticle homeobox 2". 
  3. ^ Verma AS, Fitzpatrick DR (2007). "Anophthalmia and microphthalmia". Orphanet J Rare Dis 2: 47. doi:10.1186/1750-1172-2-47. PMC 2246098. PMID 18039390. 
  4. ^ Zielinski, D; Markus, B; Sheikh, M; Gymrek, M; Chu, C; Zaks, M; Srinivasan, B; Hoffman, J. D.; Aizenbud, D; Erlich, Y (2014). "OTX2 Duplication is Implicated in Hemifacial Microsomia". PLoS ONE 9 (5): e96788. doi:10.1371/journal.pone.0096788. PMID 24816892.  edit

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.