• Gene id: 2572

Gene Summary

• Gene Symbol: GAD2   Gene   UCSC   Ensembl
• Aliases: GAD65
• Gene name: glutamate decarboxylase 2
• Alternate names: glutamate decarboxylase 2, 65 kDa glutamic acid decarboxylase, GAD-65, Glutamate decarboxylase-2 (pancreas), glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa), glutamate decarboxylase 65 kDa isoform,
• Gene location: 10p12.1 (26216306: 26304561)     Exons: 16     NC_000010.11
• Gene summary(Entrez): 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 path
• OMIM: 600337

Protein Summary

• Protein general information: Q05329  
  • Name: Glutamate decarboxylase 2 (EC 4.1.1.15) (65 kDa glutamic acid decarboxylase) (GAD 65) (Glutamate decarboxylase 65 kDa isoform)
  • Length: 585  
  • Mass: 65411
• Sequence:

  MASPGSGFWSFGSEDGSGDSENPGTARAWCQVAQKFTGGIGNKLCALLYGDAEKPAESGGSQPPRAAARKAACAC
  DQKPCSCSKVDVNYAFLHATDLLPACDGERPTLAFLQDVMNILLQYVVKSFDRSTKVIDFHYPNELLQEYNWELA
  DQPQNLEEILMHCQTTLKYAIKTGHPRYFNQLSTGLDMVGLAADWLTSTANTNMFTYEIAPVFVLLEYVTLKKMR
  EIIGWPGGSGDGIFSPGGAISNMYAMMIARFKMFPEVKEKGMAALPRLIAFTSEHSHFSLKKGAAALGIGTDSVI
  LIKCDERGKMIPSDLERRILEAKQKGFVPFLVSATAGTTVYGAFDPLLAVADICKKYKIWMHVDAAWGGGLLMSR
  KHKWKLSGVERANSVTWNPHKMMGVPLQCSALLVREEGLMQNCNQMHASYLFQQDKHYDLSYDTGDKALQCGRHV
  DVFKLWLMWRAKGTTGFEAHVDKCLELAEYLYNIIKNREGYEMVFDGKPQHTNVCFWYIPPSLRTLEDNEERMSR
  LSKVAPVIKARMMEYGTTMVSYQPLGDKVNFFRMVISNPAATHQDIDFLIEEIERLGQDL

• Structural information:
  • Interpro: IPR002129  IPR015424  IPR015421  IPR021115  
  • Prosite: PS00392
  • PDB: 1ES0 2OKK
  • PDBsum: 1ES0 2OKK
  • DIP: 29293
  • STRING: ENSP00000365437
• Other Databases: GeneCards:  GAD2  Malacards:  GAD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019752	carboxylic acid metabolic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042136	neurotransmitter biosynthetic process	IEA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006540	glutamate decarboxylation to succinate	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0004351	glutamate decarboxylase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030424	axon	IEA	cellular component
GO:0004351	glutamate decarboxylase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016595	glutamate binding	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0060077	inhibitory synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006540	glutamate decarboxylation to succinate	IEA	biological process
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04727	GABAergic synapse
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00410	beta-Alanine metabolism
hsa00650	Butanoate metabolism
hsa04940	Type I diabetes mellitus
hsa00430	Taurine and hypotaurine metabolism

Diseases

Associated diseases	References
Gestational diabetes	PMID:18588707
Schizophrenia	PMID:21250934
type 1 diabetes mellitus	PMID:19741189
type 1 diabetes mellitus	PMID:19085183
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray