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GLUD2 glutamate dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 2747, updated on 3-Nov-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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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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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)

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

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