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    GAD2 glutamate decarboxylase 2 [ Homo sapiens (human) ]

    Gene ID: 2572, updated on 10-Dec-2024

    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
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    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

    General gene information

    Clone Names

    • MGC161605, MGC161607

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutamate binding  
    enables glutamate decarboxylase activity  
    enables protein binding PubMed 
    enables protein-containing complex binding  
    enables pyridoxal phosphate binding  
    Process Evidence Code Pubs
    involved_in cellular response to brain-derived neurotrophic factor stimulus  
    involved_in cellular response to hypoxia  
    involved_in chemical synaptic transmission PubMed 
    involved_in gamma-aminobutyrate shunt  
    involved_in gamma-aminobutyric acid biosynthetic process  
    involved_in response to caloric restriction  
    involved_in response to cocaine  
    involved_in response to dexamethasone  
    involved_in response to progesterone  
    involved_in response to xenobiotic stimulus  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    located_in Golgi membrane  
    located_in axon  
    located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  
    is_active_in cytoplasm  
    located_in cytosol  
    located_in inhibitory synapse  
    located_in neuronal cell body  
    located_in perinuclear region of cytoplasm  
    located_in plasma membrane  
    located_in presynaptic membrane  
    located_in synaptic vesicle membrane  

    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_000818.3 → 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
      A0A3B3IU09, Q5VZ30
      Related
      ENSP00000259271.3, ENST00000259271.7
      Conserved Domains (1) summary
      pfam00282
      Location:138 → 509
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
    2. 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
      A0A3B3IU09, Q5VZ30
      Related
      ENSP00000365437.3, ENST00000376261.8
      Conserved Domains (1) summary
      pfam00282
      Location:138 → 509
      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)
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