U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GAD2 glutamate decarboxylase 2 [ Homo sapiens (human) ]

Gene ID: 2572, updated on 7-Apr-2025

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See GAD2 in Genome Data Viewer
Location:
10p12.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (26216372..26304558)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (26240884..26329300)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26505301..26593487)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929073 Neighboring gene NANOG hESC enhancer GRCh37_chr10:26263803-26264349 Neighboring gene myosin IIIA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26289384-26290583 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:26290901-26292100 Neighboring gene NANOG hESC enhancer GRCh37_chr10:26488725-26489248 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:26502717-26503284 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503285-26503850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:26503851-26504417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26507027-26507655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26726587-26727116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2235 Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3168 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:26778915-26779063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2236 Neighboring gene RNA, 5S ribosomal pseudogene 307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:26868178-26868678 Neighboring gene long intergenic non-protein coding RNA 3028

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC161605, MGC161607

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbon-carbon lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables carboxy-lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables glutamate decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glutamate decarboxylase activity IEA
Inferred from Electronic Annotation
more info
 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in gamma-aminobutyrate shunt IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in gamma-aminobutyrate shunt TAS
Traceable Author Statement
more info
PubMed 
involved_in gamma-aminobutyric acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus 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 cell projection 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
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane 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 synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
NP_001127838.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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)

  1. NM_000818.3NP_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
    A0A3B3IU09, Q5VZ30
    Related
    ENSP00000259271.3, ENST00000259271.7
    Conserved Domains (1) summary
    pfam00282
    Location:138509
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
  2. NM_001134366.2NP_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
    A0A3B3IU09, Q5VZ30
    Related
    ENSP00000365437.3, ENST00000376261.8
    Conserved Domains (1) summary
    pfam00282
    Location:138509
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    26216372..26304558
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    26240884..26329300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)