GLIS3 wt Allele

Preferred Label : GLIS3 wt Allele;

NCIt synonyms : GLIS Family Zinc Finger 3 wt Allele; NDH; OK/KNS-Cl.4; Gli-Similar 3 Gene; ZNF515; MGC33662;

NCIt definition : Human GLIS3 wild-type allele is located in the vicinity of 9p24.2 and is approximately 524 kb in length. This allele, which encodes zinc finger protein GLIS3, plays a role in repression and activation of transcription and the development of pancreatic beta cells. Mutation of the gene is associated with neonatal diabetes and congenital hypothyroidism (NDH) and a translocation t(2;9)(q14.1;9p24.2) which fuses this gene and the PAX8 gene is associated with thyroid hyalinizing trabecular tumor (HTT).;

NCI Metathesaurus CUI : CL1792148;

GenBank Accession Number : BC033899;

Details

Origin ID

C187430;

UMLS CUI

C5702625;

OMIM relation
- Glis family zinc finger protein 3 [OMIM gene]
See also inter- (CISMeF)
- Diabetes mellitus, neonatal, with congenital hypothyroidism [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- GLIS family zinc finger 3 [ORDO Gene]
- Glis family zinc finger protein 3 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p24.2 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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