Gene Gene information from NCBI Gene database.
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
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.
MIM HGNC e!Ensembl
138275 4093 ENSG00000136750
Protein Protein information from UniProt database.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease BEFREE 12515289
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 27993512
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 31832829
★☆☆☆☆
Found in Text Mining only
amyloidosis IX Amyloidosis Pubtator 26405069 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 19229853, 25106036, 28088111, 28528448, 28777828, 30482494, 30936840, 31222745
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 19229853, 23906988, 25106036, 28088111, 28528448, 28777828, 30185582, 30482494, 30936840, 31222745
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 35348614 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28229923
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 17235515, 19358307
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 21901839 Associate
★☆☆☆☆
Found in Text Mining only