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Aliases for GLUD2 Gene

Aliases for GLUD2 Gene

  • Glutamate Dehydrogenase 2 2 3 5
  • Glutamate Dehydrogenase Pseudogene 1 2 3
  • EC 1.4.1.3 4 61
  • GLUDP1 3 4
  • GDH 2 3 4
  • Glutamate Dehydrogenase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 14 3
  • EC 1.4.1 61
  • GDH2 3

External Ids for GLUD2 Gene

Previous HGNC Symbols for GLUD2 Gene

  • GLUDP1

Previous GeneCards Identifiers for GLUD2 Gene

  • GC0XP114899
  • GC0XU900011
  • GC0XP9V0098
  • GC0XP119906
  • GC0XP120009
  • GC0XP120181
  • GC0XP109559

Summaries for GLUD2 Gene

Entrez Gene Summary for GLUD2 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]

GeneCards Summary for GLUD2 Gene

GLUD2 (Glutamate Dehydrogenase 2) is a Protein Coding gene. Diseases associated with GLUD2 include Parkinson Disease, Late-Onset and Rett Syndrome. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Proximal tubule bicarbonate reclamation. GO annotations related to this gene include GTP binding and ADP binding. An important paralog of this gene is GLUD1.

UniProtKB/Swiss-Prot for GLUD2 Gene

  • Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.

Gene Wiki entry for GLUD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLUD2 Gene

Genomics for GLUD2 Gene

Regulatory Elements for GLUD2 Gene

Enhancers for GLUD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG121084 0.8 ENCODE 0.3 +37.3 37314 1.2 FOXA2 THRB RARA TCF12 CREM PPARG SMARCA4 PBX2 CEBPA IKZF1 GLUD2 HSPA8P1
GH0XG121160 0.9 ENCODE 0.1 +113.9 113859 1.5 HDAC1 PKNOX1 TBL1XR1 CHAMP1 TCF12 GATA2 EGR1 CBX5 RELB ETV6 ENSG00000260585 HSPA8P1 GLUD2
GH0XG121196 0.9 ENCODE 0.1 +150.0 149983 1.3 PKNOX1 ATF1 ZBTB40 TCF12 GATA2 FOS SMARCA5 NFYA CEBPB NCOA1 ENSG00000260585 HSPA8P1 GLUD2
GH0XG121203 0.2 Ensembl 0.1 +156.7 156713 1.0 ENSG00000260585 HSPA8P1 GLUD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLUD2 on UCSC Golden Path with GeneCards custom track

Promoters for GLUD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248457 213 799 CTCF RB1 CREB3L1 ETV1 ZNF175 RAD21 NCOR1 POLR2A RNF2 L3MBTL2

Genomic Location for GLUD2 Gene

Chromosome:
X
Start:
121,047,588 bp from pter
End:
121,050,080 bp from pter
Size:
2,493 bases
Orientation:
Plus strand

Genomic View for GLUD2 Gene

Genes around GLUD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLUD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLUD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLUD2 Gene

Proteins for GLUD2 Gene

  • Protein details for GLUD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49448-DHE4_HUMAN
    Recommended name:
    Glutamate dehydrogenase 2, mitochondrial
    Protein Accession:
    P49448
    Secondary Accessions:
    • B2R8G0
    • Q9UDQ4

    Protein attributes for GLUD2 Gene

    Size:
    558 amino acids
    Molecular mass:
    61434 Da
    Quaternary structure:
    • Homohexamer.

neXtProt entry for GLUD2 Gene

Selected DME Specific Peptides for GLUD2 Gene

P49448:
  • GGVTVSYFEW
  • TAMKYNLGLDLRTAAYVN
  • AGPAALGSA
  • AALGSAANHSAALLGR
  • GASEKDIVHS
  • DVPAPDM
  • ANGPTTP
  • ARRHYSE
  • RTAAYVNAIEKVFKVY
  • ACVTGKP
  • KAKIIAEGANGPTTP
  • WEVIEGYRAQHS
  • ELAKKGFIGPG
  • CDILIPAA
  • TGEREMSWIADTYA
  • VPTAEFQD
  • LAYTMERSARQIM
  • NEASYMS
  • MVEGFFDRGASIVEDKLV
  • QGFGNVG
  • DGSIWNPDGIDPKELED
  • EEQKRNRVR
  • ISQGGIHGRISATGRG
  • ALASLMTYKCAVVDVPFGGAK
  • SATGRGVFHG
  • PCKGGIR
  • QGFGNVGLHSMRYLHRFGAKC

Post-translational modifications for GLUD2 Gene

  • Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GLUD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GLUD2 Gene

Suggested Antigen Peptide Sequences for GLUD2 Gene

Graphical View of Domain Structure for InterPro Entry

P49448

UniProtKB/Swiss-Prot:

DHE4_HUMAN :
  • Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
Family:
  • Belongs to the Glu/Leu/Phe/Val dehydrogenases family.
genes like me logo Genes that share domains with GLUD2: view

No data available for Gene Families for GLUD2 Gene

Function for GLUD2 Gene

Molecular function for GLUD2 Gene

GENATLAS Biochemistry:
glutamate dehydrogenase 2,expressed in retina,testis,brain
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamate + H(2)O + NAD(P)(+) = 2-oxoglutarate + NH(3) + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.

Enzyme Numbers (IUBMB) for GLUD2 Gene

Gene Ontology (GO) - Molecular Function for GLUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004352 glutamate dehydrogenase (NAD+) activity IDA 8207021
GO:0004353 glutamate dehydrogenase [NAD(P)+] activity IDA 11032875
GO:0005525 GTP binding IDA 11032875
GO:0016491 oxidoreductase activity IEA --
GO:0043531 ADP binding IDA 12742085
genes like me logo Genes that share ontologies with GLUD2: view
genes like me logo Genes that share phenotypes with GLUD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GLUD2 Gene

Localization for GLUD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLUD2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLUD2 gene
Compartment Confidence
mitochondrion 5
cytosol 2

Gene Ontology (GO) - Cellular Components for GLUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 NOT cytoplasm IDA 18688271
GO:0005739 mitochondrion IDA 18688271
genes like me logo Genes that share ontologies with GLUD2: view

Pathways & Interactions for GLUD2 Gene

genes like me logo Genes that share pathways with GLUD2: view

Gene Ontology (GO) - Biological Process for GLUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006536 glutamate metabolic process IDA 8207021
GO:0006537 glutamate biosynthetic process IDA 11032875
GO:0006538 glutamate catabolic process IDA 11032875
GO:0055114 oxidation-reduction process IDA 8207021
genes like me logo Genes that share ontologies with GLUD2: view

No data available for SIGNOR curated interactions for GLUD2 Gene

Drugs & Compounds for GLUD2 Gene

(7) Drugs for GLUD2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
Water Approved Pharma 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(11) Additional Compounds for GLUD2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with GLUD2: view

Transcripts for GLUD2 Gene

mRNA/cDNA for GLUD2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GLUD2 Gene

Glutamate dehydrogenase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLUD2 Gene

No ASD Table

Relevant External Links for GLUD2 Gene

GeneLoc Exon Structure for
GLUD2
ECgene alternative splicing isoforms for
GLUD2

Expression for GLUD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLUD2 Gene

Protein differential expression in normal tissues from HIPED for GLUD2 Gene

This gene is overexpressed in Heart (23.5), Brain (19.9), and Ovary (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GLUD2 Gene



Protein tissue co-expression partners for GLUD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GLUD2 Gene:

GLUD2

SOURCE GeneReport for Unigene cluster for GLUD2 Gene:

Hs.368538

mRNA Expression by UniProt/SwissProt for GLUD2 Gene:

P49448-DHE4_HUMAN
Tissue specificity: Expressed in retina, testis and, at a lower level, brain.

Evidence on tissue expression from TISSUES for GLUD2 Gene

  • Eye(4.2)
  • Skin(4.2)
  • Nervous system(3.4)
  • Liver(3.2)
  • Kidney(3)
  • Heart(2.2)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with GLUD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLUD2 Gene

Orthologs for GLUD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GLUD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLUD2 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Glud1 35
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GLUD1 35
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 93 (a)
ManyToMany
-- 35
  • 87 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 81 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii glud1a 35
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gdh 36 35
  • 66 (a)
CG4434 36
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK829.4 36
  • 62 (a)
gdh-1 35
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDH1 35 37
  • 25 (a)
ManyToMany
GDH3 35
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10003 35
  • 66 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11667 34
Species where no ortholog for GLUD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLUD2 Gene

ENSEMBL:
Gene Tree for GLUD2 (if available)
TreeFam:
Gene Tree for GLUD2 (if available)

Paralogs for GLUD2 Gene

Paralogs for GLUD2 Gene

(1) SIMAP similar genes for GLUD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GLUD2: view

Variants for GLUD2 Gene

Sequence variations from dbSNP and Humsavar for GLUD2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs9697983 Pathogenic 121,049,176(+) GTATA(G/T)CGGGT upstream-variant-2KB, reference, missense
rs1000038005 -- 121,047,455(+) GCGGG(G/T)CCGGC nc-transcript-variant, upstream-variant-2KB
rs1002142070 -- 121,047,892(+) AGATG(A/G)TGGAG upstream-variant-2KB, reference, missense
rs1003134479 -- 121,048,515(+) GTCTT(C/T)CATGG upstream-variant-2KB, reference, synonymous-codon
rs1008883661 -- 121,047,452(+) GCGGC(G/T)GGTCC nc-transcript-variant, upstream-variant-2KB

Variation tolerance for GLUD2 Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLUD2 Gene

Human Gene Mutation Database (HGMD)
GLUD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLUD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GLUD2 Gene

Disorders for GLUD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GLUD2 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease, late-onset
  • parkinson disease
rett syndrome
  • rett syndrome, preserved speech variant
- elite association - COSMIC cancer census association via MalaCards
Search GLUD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GLUD2

Genetic Association Database (GAD)
GLUD2
Human Genome Epidemiology (HuGE) Navigator
GLUD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLUD2
genes like me logo Genes that share disorders with GLUD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLUD2 Gene

Publications for GLUD2 Gene

  1. Novel human glutamate dehydrogenase expressed in neural and testicular tissues and encoded by an X-linked intronless gene. (PMID: 8207021) Shashidharan P. … Plaitakis A. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Nerve tissue-specific human glutamate dehydrogenase that is thermolabile and highly regulated by ADP. (PMID: 9109504) Shashidharan P. … Plaitakis A. (J. Neurochem. 1997) 2 3 22 64
  3. Alpha helical structures in the leader sequence of human GLUD2 glutamate dehydrogenase responsible for mitochondrial import. (PMID: 22709669) Kotzamani D. … Plaitakis A. (Neurochem. Int. 2012) 3 4 64
  4. Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset. (PMID: 19826450) Plaitakis A. … Spanaki C. (Eur. J. Hum. Genet. 2010) 3 46 64
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need A.C. … Goldstein D.B. (Eur. J. Hum. Genet. 2009) 3 46 64

Products for GLUD2 Gene

Sources for GLUD2 Gene

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