Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) [ Homo sapiens (human) ]

    Gene ID: 2572, updated on 30-Jun-2015
    Official Symbol
    GAD2provided by HGNC
    Official Full Name
    glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)provided by HGNC
    Primary source
    HGNC:HGNC:4093
    See related
    Ensembl:ENSG00000136750; HPRD:11817; MIM:138275; Vega:OTTHUMG00000017836
    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]
    Orthologs
    See GAD2 in Epigenomics, MapViewer
    Location:
    10p11.23
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 myosin IIIA Neighboring gene uncharacterized LOC105376459 Neighboring gene uncharacterized LOC105376458 Neighboring gene amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein Neighboring gene RNA, 5S ribosomal pseudogene 307 Neighboring gene uncharacterized LOC101929117

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    • , (from )
      ,
    Products Interactant Other Gene Complex Source Pubs Description

    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
    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
     
    synaptic transmission TAS
    Traceable Author Statement
    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
     
    Preferred Names
    glutamate decarboxylase 2
    Names
    65 kDa glutamic acid decarboxylase
    GAD-65
    Glutamate decarboxylase-2 (pancreas)
    glutamate decarboxylase 65 kDa isoform
    NP_000809.1
    NP_001127838.1

    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, OTTHUMP00000019336, ENST00000259271, OTTHUMT00000047256
      Conserved Domains (1) summary
      cd06450
      Location:178581
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...
    2. NM_001134366.1NP_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)
      BI438818, M81882
      Consensus CDS
      CCDS7149.1
      UniProtKB/Swiss-Prot
      Q05329
      UniProtKB/TrEMBL
      Q5VZ30
      Conserved Domains (1) summary
      cd06450
      Location:178581
      DOPA_deC_like; DOPA decarboxylase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to DOPA/tyrosine decarboxylase (DDC), histidine decarboxylase (HDC), and ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      26506137..26594390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)