GAD2

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]
End	26,304,558 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[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
	2572
	14417
	ENSG00000136750
	ENSMUSG00000026787
	Q05329
	P48320
	NM_001134366; NM_000818
	NM_008078
	NP_000809; NP_001127838
	NP_032104
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

GRCh38: Ensembl release 89: ENSG00000136750 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000026787 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)".
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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000136750 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid2039509-5] 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)".

[pmid7836456-7] 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.

GAD2

Interactions

See also

References