Orthodenticle homeobox 2


Orthodenticle homeobox 2
Orthodenticle homeobox 2

PDB rendering based on 2dms.
Identifiers
Symbols OTX2; MCOPS5; MGC45000
External IDs OMIM600037 MGI97451 HomoloGene11026 GeneCards: OTX2 Gene
RNA expression pattern
PBB GE OTX2 gnf1h00384 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5015 18424
Ensembl ENSG00000165588 ENSMUSG00000021848
UniProt P32243 Q8R0B5
RefSeq (mRNA) NM_021728.2 NM_144841.3
RefSeq (protein) NP_068374.1 NP_659090.1
Location (UCSC) Chr 14:
57.27 – 57.28 Mb
Chr 14:
49.28 – 49.29 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]

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

References

  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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5015. 
  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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2246098. 

Further reading

External links

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



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