GAD2

Glutamate decarboxylase 2 is an enzyme that in humans is encoded by the GAD2 gene.^[5]

PDBOrtholog search: PDBe RCSB

AliasesGAD2, GAD65, glutamate decarboxylase 2

External IDsOMIM: 138275; MGI: 95634; HomoloGene: 20223; GeneCards: GAD2; OMA:GAD2 - orthologs

Chr.Chromosome 10 (human)^[1]

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GAD2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1ES0, 2OKK
Identifiers
Aliases	GAD2, GAD65, glutamate decarboxylase 2
External IDs	OMIM: 138275; MGI: 95634; HomoloGene: 20223; GeneCards: GAD2; OMA:GAD2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.1 Start 26,216,665 bp[1] End 26,304,558 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A3|2 15.15 cM Start 22,512,217 bp[2] End 22,583,886 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans nucleus accumbens beta cell putamen caudate nucleus endothelial cell orbitofrontal cortex external globus pallidus middle frontal gyrus Brodmann area 46 Top expressed in olfactory tubercle lateral septal nucleus paraventricular nucleus of hypothalamus globus pallidus dorsal tegmental nucleus lateral hypothalamus nucleus accumbens superior frontal gyrus lateral geniculate nucleus dorsomedial hypothalamic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding catalytic activity lyase activity protein heterodimerization activity pyridoxal phosphate binding carboxy-lyase activity glutamate binding glutamate decarboxylase activity Cellular component cytoplasm cytosol Golgi apparatus membrane Golgi membrane plasma membrane clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane synapse inhibitory synapse synaptic vesicle membrane axon cell junction perinuclear region of cytoplasm anchored component of membrane presynaptic membrane cytoplasmic vesicle Biological process carboxylic acid metabolic process neurotransmitter biosynthetic process glutamate decarboxylation to succinate chemical synaptic transmission neurotransmitter secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2572 14417 Ensembl ENSG00000136750 ENSMUSG00000026787 UniProt Q05329 P48320 RefSeq (mRNA) NM_001134366 NM_000818 NM_008078 RefSeq (protein) NP_000809 NP_001127838 NP_032104 Location (UCSC) Chr 10: 26.22 – 26.3 Mb Chr 2: 22.51 – 22.58 Mb PubMed search [3] [4]
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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 pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff-person syndrome.^[6]