INSR wt Allele

Preferred Label : INSR wt Allele;

NCIt synonyms : Insulin Receptor wt Allele; INSR; HHF5; CD220;

NCIt definition : Human INSR wild-type allele is located within 19p13.3-p13.2 and is approximately 177 kb in length. This allele, which encodes insulin receptor protein, plays a role in the regulation of glucose uptake. Mutations in either the structural gene or processing steps may lead to insulin resistance.;

GenBank Accession Number : NM_000208;

Details

Origin ID

C52170;

UMLS CUI

C1705861;

Automatic exact mappings (from CISMeF team)
- Hyperinsulinemic hypoglycemia, familial, 5 [OMIM Phenotype]
- Insulin receptor [OMIM gene]
- familial hyperinsulinemic hypoglycemia 5 [DO Concept]
- insulin receptor [ORDO Gene]
OMIM relation
- Insulin receptor [OMIM gene]
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_associated_with_disease
- Diabetes Mellitus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 19: 7245011-7067638 [NCIt concept]
gene_in_chromosomal_location
- 19p13.3-p13.2 [NCIt concept]
gene_is_element_in_pathway
- Adherens Junction Assembly Pathway [NCIt concept]
- Aldosterone-Regulated Sodium Reabsorption Pathway [NCIt concept]
- Growth Hormone Signaling Pathway [NCIt concept]
- Insulin Pathway [NCIt concept]
- Insulin Signaling Pathway [NCIt concept]
- Insulin-Mediated Glucose Transport Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- PTPN1 Signaling Pathway [NCIt concept]
- Skeletal Myogenesis Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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