GAD2 glutamate decarboxylase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAD2provided by HGNC
Official Full Name: glutamate decarboxylase 2provided by HGNC
Primary source: HGNC:HGNC:4093
See related: Ensembl:ENSG00000136750 MIM:138275; AllianceGenome:HGNC:4093
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAD65
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]
Expression: Restricted expression toward brain (RPKM 7.7) See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (26216372..26304558)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (26240884..26329300)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (26505301..26593487)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterogeneity of circulating CXCR5-PD-1[hi]Tph cells in patients of type 2 and type 1 diabetes in Chinese population.
Title: Heterogeneity of circulating CXCR5-PD-1(hi)Tph cells in patients of type 2 and type 1 diabetes in Chinese population.
The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children.
Title: The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children.
Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.
Title: Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes.
Neurological Syndromes Associated with Anti-GAD Antibodies.
Title: Neurological Syndromes Associated with Anti-GAD Antibodies.
GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.
Title: GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.
This binding characteristic is probably attributable to reduced presentation of two conformational epitopes by the N-terminal truncated molecule. These findings support the notion of disease-specific GAD65Ab epitope specificities and emphasize the need to evaluate the applicability of novel assays for different medical conditions.
Title: Reduced 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.
Posttransplant blood GAD65 and miR-375 performed equally well in quantifying early graft destruction and predicting graft outcome after islet transplantation in patients with type 1 diabetes.
Title: Combined Analysis of GAD65, miR-375, and Unmethylated Insulin DNA Following Islet Transplantation in Patients With T1D.
GAD65 antibody positivity was associated with an increased risk of future Type 2 Diabetes Mellitus in adults--{REVIEW}
Title: The association between GAD65 antibody levels and incident Type 2 Diabetes Mellitus in an adult population: A meta-analysis.
we show an interaction of the genetic variation rs2236418 in the GAD2 gene and sex on GABA/glutamate balance in the pregenual anterior cingulate cortex
Title: GAD65 Promoter Polymorphism rs2236418 Modulates Harm Avoidance in Women via Inhibition/Excitation Balance in the Rostral ACC.
In individuals with adult-onset diabetes, presence of N-terminally truncated GAD65 autoantibodies is associated with the clinical phenotype of autoimmune type 1 diabetes and predicts insulin therapy.
Title: Autoantibodies to N-terminally truncated GAD improve clinical phenotyping of individuals with adult-onset diabetes: Action LADA 12.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31510 (e-PCR)
- UniSTS:6917

D10S197 (e-PCR), detects polymorphism
- UniSTS:44597

G67243 (e-PCR)
- UniSTS:186425

G67241 (e-PCR)
- UniSTS:186426

G67242 (e-PCR)
- UniSTS:186427

D10S197 (e-PCR), detects polymorphism
- UniSTS:8782

SHGC-31510 (e-PCR)
- UniSTS:39002

SHGC-240 (e-PCR)
- UniSTS:173181

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutamate binding	IEA Inferred from Electronic Annotation more info
enables glutamate decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in gamma-aminobutyric acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in glutamate decarboxylation to succinate	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neurotransmitter biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in inhibitory synapse	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glutamate decarboxylase 2

Names: 65 kDa glutamic acid decarboxylase; GAD-65; Glutamate decarboxylase-2 (pancreas); glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)

NP_000809.1

EC 4.1.1.15

NP_001127838.1

EC 4.1.1.15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000818.3 → NP_000809.1 glutamate decarboxylase 2

See identical proteins and their annotated locations for NP_000809.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

BI438818, BP392604, M74826

Consensus CDS

CCDS7149.1

UniProtKB/Swiss-Prot

Q05329, Q9UD87

UniProtKB/TrEMBL

Q5VZ30

Related

ENSP00000259271.3, ENST00000259271.7

Conserved Domains (1) summary

pfam00282
Location:138 → 509

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
NM_001134366.2 → NP_001127838.1 glutamate decarboxylase 2

See identical proteins and their annotated locations for NP_001127838.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1.

Source sequence(s)

AL162503, M81882

Consensus CDS

CCDS7149.1

UniProtKB/Swiss-Prot

Q05329, Q9UD87

UniProtKB/TrEMBL

Q5VZ30

Related

ENSP00000365437.3, ENST00000376261.8

Conserved Domains (1) summary

pfam00282
Location:138 → 509

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain