Version 5.4
Homo sapiens Gene: GAD2
Summary
InnateDB Gene IDBG-63611.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GAD2
Gene Name glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Synonyms GAD65
Species Homo sapiens
Ensembl Gene ENSG00000136750
Encoded Proteins
IDBP-63613
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
IDBP-63615
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
IDBP-63617
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
IDBP-370139
glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 Information
Type Protein coding
Genomic Location Chromosome 10:26216307-26304558
Strand Forward strand
Band p12.1
Transcripts
ENST00000376261 ENSP00000365437
ENST00000259271 ENSP00000259271
ENST00000376248 ENSP00000365424
ENST00000428517 ENSP00000390434
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 4 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004351 glutamate decarboxylase activity
GO:0005515 protein binding
GO:0016595 glutamate binding
GO:0016831 carboxy-lyase activity
GO:0030170 pyridoxal phosphate binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0006540 glutamate decarboxylation to succinate
GO:0007268 synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0019752 carboxylic acid metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042493 response to drug
Cellular Component
GO:0000139 Golgi membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0030672 synaptic vesicle membrane
GO:0031225 anchored component of membrane
GO:0031410 cytoplasmic vesicle
GO:0042734 presynaptic membrane
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026787
View Gene Order
ENSBTAG00000008056
Not yet available
Pathways
NETPATH
REACTOME
REACT_23947
GABA synthesis, release, reuptake and degradation pathway
REACT_24020
GABA synthesis pathway
REACT_13685
Neuronal System pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_13723
Neurotransmitter Release Cycle pathway
KEGG
hsa00430
Taurine and hypotaurine metabolism pathway
hsa00650
Butanoate metabolism pathway
hsa04940
Type I diabetes mellitus pathway
hsa00410
beta-Alanine metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Glutamate Glutamine metabolism pathway
INOH website
Methionine Cysteine metabolism pathway
INOH website
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.231829 Hs.614261
RefSeq NM_000818 NM_001134366
HUGO
OMIM
CCDS CCDS7149
HPRD 11817
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca