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.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |