OTX2 orthodenticle homeobox 2
Gene ID: 5015, updated on 2-Nov-2024Gene type: protein coding
Also known as: CPHD6; MCOPS5
- See all available tests in GTR for this gene
- Go to complete Gene record for OTX2
- Go to Variation Viewer for OTX2 variants
Summary
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | not available |
| Pituitary hormone deficiency, combined, 6 | not available |
| Syndromic microphthalmia type 5 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-09-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 14q22.3
- Sequence:
- Chromosome: 14; NC_000014.9 (56799905..56810479, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OTX2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- OTX2 @ The Human Genetics Unit Edinburgh U.K.
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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