GLIS2 wt Allele

Preferred Label : GLIS2 wt Allele;

NCIt synonyms : GLIS Family Zinc Finger 2 wt Allele; NPHP7; NKL; GLI-Similar 2 Gene; Nephrocystin-7 Gene;

NCIt definition : Human GLIS2 wild-type allele is located in the vicinity of 16p13.3 and is approximately 25 kb in length. This allele, which encodes zinc finger protein GLIS2, plays a role in the modulation of both signaling and transcription. Mutation of the gene is associated with type 7 nephronophthisis.;

GenBank Accession Number : AF325914;

Details

Origin ID

C105901;

UMLS CUI

C3811757;

Automatic exact mappings (from CISMeF team)
- GLIS family zinc finger 2 [ORDO Gene]
- Nephronophthisis 7 [OMIM Phenotype]
OMIM relation
- Glis family zinc finger protein 2 [OMIM gene]
See also inter- (CISMeF)
- nephronophthisis 7 [DO 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_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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