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    Gad2 glutamic acid decarboxylase 2 [ Mus musculus (house mouse) ]

    Gene ID: 14417, updated on 21-Apr-2024

    Summary

    Official Symbol
    Gad2provided by MGI
    Official Full Name
    glutamic acid decarboxylase 2provided by MGI
    Primary source
    MGI:MGI:95634
    See related
    Ensembl:ENSMUSG00000026787 AllianceGenome:MGI:95634
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    GAD65; Gad-2; GAD(65); 6330404F12Rik
    Summary
    Predicted to enable glutamate binding activity; glutamate decarboxylase activity; and pyridoxal phosphate binding activity. Predicted to be involved in glutamate decarboxylation to succinate. Predicted to act upstream of or within neurotransmitter biosynthetic process. Located in axon; cytoplasm; and synapse. Is expressed in several structures, including genitourinary system; gut; heart; nervous system; and sensory organ. Used to study epilepsy and type 1 diabetes mellitus. Human ortholog(s) of this gene implicated in gestational diabetes; schizophrenia; and type 1 diabetes mellitus. Orthologous to human GAD2 (glutamate decarboxylase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in frontal lobe adult (RPKM 14.3), whole brain E14.5 (RPKM 8.4) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    2 A3; 2 15.15 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (22512262..22583889)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (22621015..22693877)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene 3-phosphoglycerate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_03908 Neighboring gene STARR-seq mESC enhancer starr_03909 Neighboring gene myosin IIIA Neighboring gene STARR-seq mESC enhancer starr_03910 Neighboring gene guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 pseudogene Neighboring gene microRNA 3967 Neighboring gene STARR-seq mESC enhancer starr_03915 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 3 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4417 Neighboring gene STARR-seq mESC enhancer starr_03917 Neighboring gene amyloid beta precursor protein binding family B member 1 interacting protein Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:22661206-22661359 Neighboring gene STARR-positive B cell enhancer ABC_E7796 Neighboring gene STARR-seq mESC enhancer starr_03918 Neighboring gene STARR-seq mESC enhancer starr_03919 Neighboring gene predicted gene, 52503

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (15)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables glutamate decarboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glutamate decarboxylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables pyridoxal phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in carboxylic acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gamma-aminobutyric acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gamma-aminobutyric acid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in glutamate decarboxylation to succinate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glutamate decarboxylation to succinate ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in inhibitory synapse ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in presynapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    glutamate decarboxylase 2
    Names
    65 kDa glutamic acid decarboxylase
    GAD-65
    NP_032104.2
    XP_011237325.1

    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_008078.2NP_032104.2  glutamate decarboxylase 2

      See identical proteins and their annotated locations for NP_032104.2

      Status: VALIDATED

      Source sequence(s)
      AL928693, BC018380, BQ571205
      Consensus CDS
      CCDS15724.1
      UniProtKB/Swiss-Prot
      O35519, P48320
      UniProtKB/TrEMBL
      Q548L4
      Related
      ENSMUSP00000028123.4, ENSMUST00000028123.4
      Conserved Domains (1) summary
      pfam00282
      Location:138509
      Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      22512262..22583889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239023.4XP_011237325.1  glutamate decarboxylase 2 isoform X1

      Conserved Domains (1) summary
      cl18945
      Location:138307
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...