Glutamate Decarboxylase 2

Preferred Label : Glutamate Decarboxylase 2;

NCIt synonyms : GAD2; EC 4.1.1.15; 65 kDa Glutamic Acid Decarboxylase; GAD-65; Glutamate Decarboxylase 65 kDa Isoform;

NCIt related terms : Glutamic Acid Decarboxylase 65; GLUTAMIC ACID DECARBOXYLASE 2; GAD65; Glutamate decarboxylase 65;

NCIt definition : Glutamate decarboxylase 2 (585 aa, 65 kDa) is encoded by the human GAD2 gene. This protein plays a role in the biosynthesis of gamma-aminobutyric acid from glutamate.;

Alternative definition : CDISC: An antigen of the 65 kDa isoform of GAD which is encoded by the GAD2 gene. It can be considered as an autoantigen and is commonly associated with the autoimmune disease type 1 diabetes.;

Details

Origin ID

C185683;

UMLS CUI

C2000774;

Automatic exact mappings (from CISMeF team)
- Glutamate decarboxylase 2 [OMIM gene]
- glutamate decarboxylase 2 [MeSH Supplementary Concept]
- glutamate decarboxylase 2 [HGNC gene]
- glutamate decarboxylase 2 [MeSH concept]
OMIM relation
- Glutamate decarboxylase 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- GAD2 protein, human [MeSH concept]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GAD2 Gene [NCIt concept]
- Lyase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytosol [NCIt concept]
- Membrane of the Golgi Apparatus [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Beta-Alanine Metabolism Pathway [NCIt concept]
- Butanoate Metabolism Pathway [NCIt concept]
- Taurine and Hypotaurine Metabolism Pathway [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Hepatoerythropoietic Porphyria [NCIt concept]
gene_product_plays_role_in_biological_process
- Biogenic Amine Metabolic Process [NCIt concept]
- Biosynthetic Process [NCIt concept]
- Neuronal Transmission [NCIt concept]

Keyword's position in hierarchy(ies) :

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