GUCY2C wt Allele

Preferred Label : GUCY2C wt Allele;

NCIt synonyms : MECIL; STAR; Guanylate Cyclase 2C (Heat Stable Enterotoxin Receptor) Gene; Guanylate Cyclase 2C wt Allele; Guanylate Cyclase C Gene; MUCIL; DIAR6; GUC2C; GCC;

NCIt definition : Human GUCY2C wild-type allele is located in the vicinity of 12p12 and is approximately 84 kb in length. This allele, which encodes heat-stable enterotoxin receptor protein, plays a role in the mediation of ligand-mediated nucleotide cyclase activity. Mutation of the gene is associated with congenital diarrhea type 6 and meconium ileus.;

GenBank Accession Number : NM_004963;

Details

Origin ID

C123876;

UMLS CUI

C4084890;

Automatic exact mappings (from CISMeF team)
- Guanylate cyclase 2c [OMIM gene]
- Stars [UNESCO concept]
- Steroidogenic acute regulatory protein [OMIM gene]
- Toe syndactyly, telecanthus, and anogenital and renal malformations [OMIM Phenotype]
- guanylate cyclase 2C [ORDO Gene]
- stars, celestial [MeSH Descriptor]
- steroidogenic acute regulatory protein [ORDO Gene]
OMIM relation
- Guanylate cyclase 2c [OMIM gene]
See also inter- (CISMeF)
- Diarrhea 6 [OMIM Phenotype]
- Goblet cell carcinoma [ORDO Disease]
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
- 12p12 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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