GLUD2
Glutamate dehydrogenase 2, mitochondrial
Also known as: DHE4_HUMAN, GLUDP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49448
- Gene
- GLUD2
- Ensembl
- ENSG00000182890
- Chromosome
- X
- Canonical length
- 558 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria
- Quaternary structure
- Homohexamer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
558 residues, UniProt reviewed canonical sequence.
>P49448|GLUD2
1 MYRYLAKALL PSRAGPAALG SAANHSAALL GRGRGQPAAA SQPGLALAAR RHYSELVADR
61 EDDPNFFKMV EGFFDRGASI VEDKLVKDLR TQESEEQKRN RVRGILRIIK PCNHVLSLSF
121 PIRRDDGSWE VIEGYRAQHS QHRTPCKGGI RYSTDVSVDE VKALASLMTY KCAVVDVPFG
181 GAKAGVKINP KNYTENELEK ITRRFTMELA KKGFIGPGVD VPAPDMNTGE REMSWIADTY
241 ASTIGHYDIN AHACVTGKPI SQGGIHGRIS ATGRGVFHGI ENFINEASYM SILGMTPGFR
301 DKTFVVQGFG NVGLHSMRYL HRFGAKCIAV GESDGSIWNP DGIDPKELED FKLQHGSILG
361 FPKAKPYEGS ILEVDCDILI PAATEKQLTK SNAPRVKAKI IAEGANGPTT PEADKIFLER
421 NILVIPDLYL NAGGVTVSYF EWLKNLNHVS YGRLTFKYER DSNYHLLLSV QESLERKFGK
481 HGGTIPIVPT AEFQDSISGA SEKDIVHSAL AYTMERSARQ IMHTAMKYNL GLDLRTAAYV
541 NAIEKVFKVY SEAGVTFTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GLUD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 15 nTPM
Expression across tissuesHPA
Tissue
- testis: 15 nTPM
- liver: 3.7 nTPM
- basal ganglia: 1.7 nTPM
- adipose tissue: 1.6 nTPM
- adrenal gland: 1.6 nTPM
- epididymis: 1.6 nTPM
Single-cell type
- proximal tubule cells: 2.9 nCPM
- renal collecting duct intercalated cells: 2 nCPM
- loop of henle epithelial cells: 1.6 nCPM
- oligodendrocyte progenitor cells: 1.4 nCPM
- brain excitatory neurons: 1.2 nCPM
- distal convoluted tubule cells: 1.2 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 3.4 nTPM
- choroid plexus: 2.6 nTPM
- hippocampal formation: 2.4 nTPM
- basal ganglia: 2.1 nTPM
- white matter: 1.9 nTPM
- hypothalamus: 1.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GLUD2.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 73 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.27
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- 0.19
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ADP binding
- glutamate dehydrogenase (NAD+) activity
- glutamate dehydrogenase (NADP+) activity
- glutamate dehydrogenase [NAD(P)+] activity
- GTP binding
- L-leucine binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase
- Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, C-terminal
- Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, dimerisation domain
- Leu/Phe/Val dehydrogenases active site
- NAD(P) binding domain of glutamate dehydrogenase
- NAD(P)-binding domain superfamily
- Aminoacid dehydrogenase-like, N-terminal domain superfamily
- Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
- Glu/Leu/Phe/Val dehydrogenase, dimerisation domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GLUD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GLUD2 as an antibody target. Whether an autoantibody or antibody against GLUD2 could matter depends on whether native GLUD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GLUD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GLUD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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