GAD2

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

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
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 22,622,205 bp[2] End 22,693,874 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 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 • cell 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 • response to drug • chemical synaptic transmission • GO:0010554 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: 22.62 – 22.69 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Interactions

GAD2 has been shown to interact with GAD1.[7]

See also

• Glutamate decarboxylase

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

References

1. GRCh38: Ensembl release 89: ENSG00000136750 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026787 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Cram DS, Barnett LD, Joseph JL, Harrison LC (July 1991). "Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets". Biochem. Biophys. Res. Commun. 176 (3): 1239–44. doi:10.1016/0006-291X(91)90418-7. PMID 2039509.
6. "Entrez Gene: GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)".
7. Dirkx R, Thomas A, Li L, Lernmark A, Sherwin RS, De Camilli P, Solimena M (February 1995). "Targeting of the 67-kDa isoform of glutamic acid decarboxylase to intracellular organelles is mediated by its interaction with the NH2-terminal region of the 65-kDa isoform of glutamic acid decarboxylase". J. Biol. Chem. 270 (5): 2241–6. doi:10.1074/jbc.270.5.2241. PMID 7836456.