GAD2 (glutamate decarboxylase 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2572
Gene name Glutamate decarboxylase 2
Gene symbol GAD2
Synonyms (NCBI Gene)
GAD65
Chromosome 10
Chromosome location 10p12.1
Summary This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A path
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004351 Function Glutamate decarboxylase activity IBA
GO:0004351 Function Glutamate decarboxylase activity IEA
GO:0005515 Function Protein binding IPI 10671565, 25416956, 32296183
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138275 4093 ENSG00000136750
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05329
Protein name Glutamate decarboxylase 2 (EC 4.1.1.15) (65 kDa glutamic acid decarboxylase) (GAD-65) (Glutamate decarboxylase 65 kDa isoform)
Protein function Catalyzes the production of GABA.
PDB 1ES0 , 2OKK , 7LZ6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00282 Pyridoxal_deC 138 → 509 Pyridoxal-dependent decarboxylase conserved domain Domain
Sequence
Sequence length 585
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Alanine, aspartate and glutamate metabolism
beta-Alanine metabolism
Taurine and hypotaurine metabolism
Butanoate metabolism
Metabolic pathways
GABAergic synapse
Type I diabetes mellitus 		  GABA synthesis
GABA synthesis, release, reuptake and degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs55789936 RCV005904504
Gastric cancer Benign rs55789936 RCV005904505
Melanoma Benign rs55789936 RCV005904507
Uterine carcinosarcoma Benign rs55789936 RCV005904506
Show/Hide Text Mining Associations (38)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
amyloidosis IX Associate 26405069
Ataxia Associate 35348614
Autistic Disorder Associate 21901839
Autoimmune Diseases of the Nervous System Associate 35348614, 36621173
Autoimmune limbic encephalitis Associate 34841709
Cerebellar Ataxia Associate 15571623
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Associate 34153873
Conversion Disorder Associate 31769235
Cystic Fibrosis Associate 16206514
Depressive Disorder Major Associate 20227114