Format

Send to:

Choose Destination

GAD2 glutamate decarboxylase 2 [ Homo sapiens (human) ]

Gene ID: 2572, updated on 7-Dec-2018

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
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

Genomic context

See GAD2 in Genome Data Viewer
Location:
10p12.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (26216307..26304562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (26505236..26593491)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929073 Neighboring gene myosin IIIA Neighboring gene uncharacterized LOC107984176 Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene RNA, 5S ribosomal pseudogene 307

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC161605, MGC161607

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutamate binding IEA
Inferred from Electronic Annotation
more info
 
glutamate decarboxylase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
glutamate decarboxylation to succinate IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane 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)
glutamate decarboxylase 65 kDa isoform
NP_000809.1
NP_001127838.1

NCBI Reference Sequences (RefSeq)

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_000818.2NP_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
    UniProtKB/TrEMBL
    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
    UniProtKB/TrEMBL
    Q5VZ30
    Related
    ENSP00000365437.3, ENST00000376261.7
    Conserved Domains (1) summary
    pfam00282
    Location:138509
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    26216307..26304562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center