GNAS wt Allele

Preferred Label : GNAS wt Allele;

NCIt synonyms : NESP55; PHP1B; GNAS Complex Locus wt Allele; POH; GNASXL; GNAS1; GPSA; GSP; GSA; PHP1A; NESP; AHO; SCG6; C20orf45; SgVI;

NCIt definition : Human GNAS wild-type allele is located in the vicinity of 20q13.3 and is approximately 71 kb in length. This allele, which encodes neuroendocrine secretory protein 55, protein ALEX and guanine nucleotide-binding protein G(s) subunit alpha isoforms short and XLas, is involved in the mediation of G-protein coupled receptor-dependent signal transduction. Mutations in this gene are associated with Albright's hereditary osteodystrophy.;

GenBank Accession Number : NM_000516;

Détails

Origin ID

C52656;

UMLS CUI

C1706339;

False automatic mappings
- Darbepoetin alfa [MeSH Descriptor]
OMIM relation
- Gnas complex locus [OMIM Phenotype]
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_has_physical_location
- 20: 56848190-56919642 [NCIt concept]
gene_in_chromosomal_location
- 20q13.2-q13.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Cellular Myxoma [NCIt concept]
- Fibrous Dysplasia [NCIt concept]
- Intramuscular Myxoma [NCIt concept]
- McCune-Albright Syndrome [NCIt concept]
- Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
gene_is_element_in_pathway
- Attenuation of GPCR Signaling Pathway [NCIt concept]
- CCR3 Signaling Pathway [NCIt concept]
- CFTR Pathway [NCIt concept]
- CREB Activation Signaling Pathway [NCIt concept]
- CSK Protein Kinase Activation Pathway [NCIt concept]
- ChREBP Pathway [NCIt concept]
- Corticosteroid Cardioprotection Pathway [NCIt concept]
- Erk1/Erk2 MAPK Signaling Pathway [NCIt concept]
- G-Protein Signaling Pathway [NCIt concept]
- GPCR Desensitization Pathway [NCIt concept]
- GPCR Signaling Pathway [NCIt concept]
- Ion Channels in Vascular Endothelium Pathway [NCIt concept]
- MAP Kinase Activation Pathway [NCIt concept]
- Oocyte Maturation Pathway [NCIt concept]
- Phospholipase C-Epsilon Signaling Pathway [NCIt concept]
- Protein Kinase A Activation Pathway [NCIt concept]
- Spermatogenesis Regulation Pathway [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

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

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