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    GLUD2 glutamate dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 2747, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GLUD2provided by HGNC
    Official Full Name
    glutamate dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:4336
    See related
    Ensembl:ENSG00000182890 MIM:300144; AllianceGenome:HGNC:4336
    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
    GDH2; GLUDP1
    Summary
    The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010]
    Orthologs
    all
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    Genomic context

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    See GLUD2 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (121047610..121050094)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (119347469..119349953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (120181464..120183948)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cancer/testis antigen family 47 member A1 Neighboring gene uncharacterized LOC105373328 Neighboring gene CBLL1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29907 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:120331053-120332252 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 1 Neighboring gene microRNA 3672

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Yeast artificial chromosomes containing human Xq24-Xq28 DNA: library construction and representation of probe sequences. Abidi FE, et al. Genomics, 1990 Jul. PMID 2365355
    2. Human GLUD2 glutamate dehydrogenase is expressed in neural and testicular supporting cells. Spanaki C, et al. J Biol Chem, 2010 May 28. PMID 20194501, Free PMC Article
    3. The human GLUD2 glutamate dehydrogenase and its regulation in health and disease. Plaitakis A, et al. Neurochem Int, 2011 Sep. PMID 21420458
    4. Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset. Plaitakis A, et al. Eur J Hum Genet, 2010 Mar. PMID 19826450, Free PMC Article
    5. The human GLUD2 glutamate dehydrogenase: localization and functional aspects. Zaganas I, et al. Neurochem Int, 2009 Jul-Aug. PMID 19428807

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lack of evidence for direct ligand-gated ion channel activity of GluD receptors.
      Title: Lack of evidence for direct ligand-gated ion channel activity of GluD receptors.
    2. Ammonia inhibits energy metabolism in astrocytes in a rapid and glutamate dehydrogenase 2-dependent manner.
      Title: Ammonia inhibits energy metabolism in astrocytes in a rapid and glutamate dehydrogenase 2-dependent manner.
    3. Crystal structure of glutamate dehydrogenase 2, a positively selected novel human enzyme involved in brain biology and cancer pathophysiology.
      Title: Crystal structure of glutamate dehydrogenase 2, a positively selected novel human enzyme involved in brain biology and cancer pathophysiology.
    4. Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease.
      Title: Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease.
    5. present data, showing that GLUD2 expression in Tg mice improves in vivo glucose homeostasis by boosting fasting serum insulin levels, suggest that evolutionary adaptation of hGDH2 has enabled humans to achieve narrow-range euglycemia by regulating glutamate-mediated basal insulin secretion
      Title: Transgenic expression of the positive selected human GLUD2 gene improves in vivo glucose homeostasis by regulating basic insulin secretion.
    6. The autoantibodies to GluD2 are common in patients with OMAS, bind to surface determinants, and are potentially pathogenic.
      Title: Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome.
    7. In HEK293 cell lines GDH2 and GDH1 were over-expressed and found to be co-localized in subcellular fractions.
      Title: Localization of Human Glutamate Dehydrogenases Provides Insights into Their Metabolic Role and Their Involvement in Disease Processes.
    8. GLUD2 overexpression inhibited Glioblastoma (GBM) cell growth suggesting a novel potential drug target for control of GBM progression. The possibility to enhance GLUD2 activity in GBM could result in a blocked/reduced proliferation of GBM cells without affecting the survival of the surrounding neurons.
      Title: Mitochondrial enzyme GLUD2 plays a critical role in glioblastoma progression.
    9. hGDH2 evolution bestowed large human neurons with enhanced glutamate metabolizing capacity, thus strengthening cortical excitatory transmission.
      Title: Evolution of GLUD2 Glutamate Dehydrogenase Allows Expression in Human Cortical Neurons.
    10. This study demonstrated that hGDH2 expression increases capacity for uptake and oxidative metabolism of glutamate, particularly during increased workload and hypoglycemia.
      Title: Expression of the human isoform of glutamate dehydrogenase, hGDH2, augments TCA cycle capacity and oxidative metabolism of glutamate during glucose deprivation in astrocytes.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of glutamate dehydrogenase 2 (GLUD2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-leucine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutamate dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glutamate dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glutamate dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glutamate dehydrogenase [NAD(P)+] activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glutamate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutamate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glutamate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    glutamate dehydrogenase 2, mitochondrial
    Names
    GDH 2
    glutamate dehydrogenase pseudogene 1
    testicular secretory protein Li 14
    NP_036216.2

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_016456.1 RefSeqGene

      Range
      5003..7487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012084.4 → NP_036216.2  glutamate dehydrogenase 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_036216.2

      Status: REVIEWED

      Source sequence(s)
      AC006144, BC050732
      Consensus CDS
      CCDS14603.1
      UniProtKB/Swiss-Prot
      B2R8G0, P49448, Q9UDQ4
      UniProtKB/TrEMBL
      A0A140VK14, Q53GW3
      Related
      ENSP00000327589.1, ENST00000328078.3
      Conserved Domains (3) summary
      cd01076
      Location:263 → 548
      NAD_bind_1_Glu_DH; NAD(P) binding domain of glutamate dehydrogenase, subgroup 1
      COG0334
      Location:104 → 555
      GdhA; Glutamate dehydrogenase/leucine dehydrogenase [Amino acid transport and metabolism]
      pfam02812
      Location:113 → 240
      ELFV_dehydrog_N; Glu/Leu/Phe/Val dehydrogenase, dimerization 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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      121047610..121050094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160027.1 Reference GRCh38.p14 PATCHES

      Range
      367013..369497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      119347469..119349953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49448.2 GenPept UniProtKB/Swiss-Prot:P49448

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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