OTX2 wt Allele

Preferred Label : OTX2 wt Allele;

NCIt synonyms : CPHD6; Orthodenticle Homeobox 2 wt Allele; MCOPS5;

NCIt definition : Human OTX2 wild-type allele is located in the vicinity of 14q22.3 and is approximately 10 kb in length. This allele, which encodes homeobox protein OTX2, plays a role in the positive regulation of gene expression during embryonic pattern formation. Mutation of the gene is associated with both microphthalmia syndromic type 5 and pituitary hormone deficiency combined type 6.;

NCIt note : Aberrant expression of the OTX2 gene may be associated with subgroup 3 medulloblastoma. (Nature. 2012; 488:49-56.);

GenBank Accession Number : AF298117;

Détails

Origin ID

C102952;

UMLS CUI

C3539601;

Automatic exact mappings (from CISMeF team)
- Microphthalmia, syndromic 5 [OMIM Phenotype]
- Pituitary hormone deficiency, combined, 6 [OMIM Phenotype]
- Syndromic microphthalmia type 5 [ORDO Disease]
- microphthalmia, syndromic 5 [MeSH Supplementary Concept]
- syndromic microphthalmia 5 [DO Concept]
OMIM relation
- Orthodenticle homeobox 2 [OMIM gene]
See also inter- (CISMeF)
- microphthalmia, syndromic 5 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Embryogenesis [NCIt concept]
- Neural Development [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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