About: OTX2 wt Allele     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • OTX2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 600037
GenBank_Accession_Number
  • AF298117
Semantic_Type
  • Gene or Genome
Preferred_Name
  • OTX2 wt Allele
NCI_META_CUI
  • CL437394
EntrezGene_ID
  • 5015
HGNC_ID
  • HGNC:8522
FULL_SYN
  • Orthodenticle Homeobox 2 wt AlleleSYNCI
  • OTX2 wt AllelePTNCI
  • CPHD6SYNCI
  • MCOPS5SYNCI
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.NCI
DesignNote
  • Aberrant expression of the OTX2 gene may be associated with subgroup 3 medulloblastoma. (Nature. 2012; 488:49-56.)
code
  • C102952
Faceted Search & Find service v1.16.121 as of Mar 31 2025


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software