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    GAD2 glutamate decarboxylase 2 [ Homo sapiens (human) ]

    Gene ID: 2572, updated on 17-Jun-2019

    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:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 Apr 4 07:08:55 2018

    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 IEA
    Inferred from Electronic Annotation
    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
     
    neurotransmitter secretion TAS
    Traceable Author Statement
    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, ENST00000376261.8
      Conserved Domains (1) summary
      pfam00282
      Location:138509
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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