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Validated All-in-One™ qPCR Primer for OTX2(NM_172337.3) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
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. [provided by RefSeq].
Gene References into function
- Data suggest that OTX2 may regulate retinal pigment epithelium (RPE)-specific target genes, such as DOPAchrome tautomerase (DCT), thereby maintaining the homeostasis of RPE.
- OTX2 functions to specify the fate of neuroectoderm in various regions of the developing brain. This developmental role is consistent with the evidence suggesting that OTX2 is a medulloblastoma oncogene.
- Gene expression analyses showed that OTX2 transcripts were present at high levels in 14 of 15 (93%) medulloblastomas with anaplastic histopathologic features.
- Heterozygous mutations of OTX2 cause severe ocular malformations.
- Molecular diagnostic of human mutant OTX2 proteins discriminates hypomorphic and loss of function mutations from other mutations that may not be relevant to ocular pathology
- This review describes how cross regulation for PAX6, SOX2 and perhaps OTX2 has now been uncovered, pointing to the mechanisms that can fine-tune the expression of three such essential components in eye development.
- Gbx2 and Otx2 interact with the WD40 domain of Groucho/Tle corepressors
- Polymorphisms in the homeobox gene OTX2 is associated with bipolar disorder
- BOR and OAVS features are associated with duplication of SIX1, SIX6 and OTX2 resulting from a complex chromosomal rearrangement.
- A novel mutation in OTX2 binds normally to target genes and acts as a dominant negative inhibitor of HESX1 gene expression in combined pituittary hormone deficiency.
- Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma are reported.
- OTR1, OTX2 and CRX act as positive modulators of the BEST1 promoter in the retinal pigment epithelium.
- OTX2 mutation is a cause of combined pituitary hormone deficiency (CPHD).