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GAD2 (glutamate decarboxylase 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2572
Gene nameGene Name - the full gene name approved by the HGNC.
Glutamate decarboxylase 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GAD2
SynonymsGene synonyms aliases
GAD65
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1
SummarySummary 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 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 man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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

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