GAD2 (glutamate decarboxylase 2)

2006-12-01  

Identity

HGNC
LOCATION
10p12.1
LOCUSID
ALIAS
GAD65

Other Information

Locus ID:

NCBI: 2572
MIM: 138275
HGNC: 4093
Ensembl: ENSG00000136750

Variants:

dbSNP: 2572
ClinVar: 2572
TCGA: ENSG00000136750
COSMIC: GAD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136750ENST00000259271Q05329
ENSG00000136750ENST00000259271Q5VZ30
ENSG00000136750ENST00000376261Q05329
ENSG00000136750ENST00000376261Q5VZ30
ENSG00000136750ENST00000428517Q5VZ31
ENSG00000136750ENST00000648567A0A3B3IU09

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
beta-Alanine metabolismKEGGko00410
Taurine and hypotaurine metabolismKEGGko00430
Butanoate metabolismKEGGko00650
Type I diabetes mellitusKEGGko04940
beta-Alanine metabolismKEGGhsa00410
Taurine and hypotaurine metabolismKEGGhsa00430
Butanoate metabolismKEGGhsa00650
Type I diabetes mellitusKEGGhsa04940
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
GABA (gamma-Aminobutyrate) shuntKEGGhsa_M00027
GABA (gamma-Aminobutyrate) shuntKEGGM00027
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
GABA synthesisREACTOMER-HSA-888568

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368791072023Heterogeneity of circulating CXCR5-PD-1(hi)Tph cells in patients of type 2 and type 1 diabetes in Chinese population.0
368791072023Heterogeneity of circulating CXCR5-PD-1(hi)Tph cells in patients of type 2 and type 1 diabetes in Chinese population.0
351963142022Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.8
354208792022The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children.1
351963142022Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.8
354208792022The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children.1
318665362020GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.4
324563442020Neurological Syndromes Associated with Anti-GAD Antibodies.33
318665362020GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.4
324563442020Neurological Syndromes Associated with Anti-GAD Antibodies.33
302030412019Combined Analysis of GAD65, miR-375, and Unmethylated Insulin DNA Following Islet Transplantation in Patients With T1D.10
302644812019Reduced display of conformational epitopes in the N-terminal truncated GAD65 isoform: relevance for people with stiff person syndrome or DQ8/8-positive Type 1 diabetes mellitus.1
308534482019The association between GAD65 antibody levels and incident Type 2 Diabetes Mellitus in an adult population: A meta-analysis.6
302030412019Combined Analysis of GAD65, miR-375, and Unmethylated Insulin DNA Following Islet Transplantation in Patients With T1D.10
302644812019Reduced display of conformational epitopes in the N-terminal truncated GAD65 isoform: relevance for people with stiff person syndrome or DQ8/8-positive Type 1 diabetes mellitus.1

Citation

Dessen P

GAD2 (glutamate decarboxylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-12-01

Online version: http://atlasgeneticsoncology.org/gene/42996/gad2