GAD2 (glutamate decarboxylase 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2572
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate decarboxylase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GAD2
Synonyms (NCBI Gene) Gene synonyms aliases
GAD65
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004351 Function Glutamate decarboxylase activity IEA
GO:0005515 Function Protein binding IPI 10671565, 25416956, 32296183
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138275 4093 ENSG00000136750
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 15560956, 18923069
Seizure Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)		 8954991, 8985701
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 15560956 ClinVar
Show/Hide Text Mining Associations (38)
Associations from Text Mining
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