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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 56
  • GLUDP1 3 4
  • GDH 2 3 4
  • Glutamate Dehydrogenase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 14 3
  • EC 1.4.1 56
  • 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 Arginine biosynthesis and Nitrogen metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for GLUD2 Gene

Promoters and enhancers for GLUD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI121047 Promoter 1.5 EPDnew Ensembl 550.8 +0.2 213 0.8 CTCF RB1 ETV1 RAD21 POLR2A VEZF1 EZH2 L3MBTL2 ZBTB11 REST LOC105373328 GLUD2 EEF1A1P30 CUL4B CT47A6 HSPA8P1
GH0XI121084 Enhancer 0.8 ENCODE 0.3 +37.3 37314 1.2 FOXA2 THRB RARA TCF12 ATF7 CREM RXRA PPARG NFIL3 SMARCA4 GLUD2 HSPA8P1
GH0XI121160 Enhancer 0.9 ENCODE 0.1 +113.9 113858 1.5 PKNOX1 ARNT TCF12 GATA2 ATF7 RUNX3 NCOA1 JUNB MBD2 ATF4 ENSG00000260585 HSPA8P1 GLUD2
GH0XI121196 Enhancer 0.9 ENCODE 0.1 +150.0 149982 1.3 PKNOX1 ATF1 TAF9B ZBTB40 TCF12 GATA2 FOS ATF7 SMARCA5 NFYA ENSG00000260585 HSPA8P1 GLUD2
GH0XI121203 Enhancer 0.2 Ensembl 0.1 +156.7 156713 1 HSPA8P1 ENSG00000260585 GLUD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GLUD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GLUD2 gene promoter:

Genomic Locations for GLUD2 Gene

Genomic Locations for GLUD2 Gene
chrX:121,047,588-121,050,080
(GRCh38/hg38)
Size:
2,493 bases
Orientation:
Plus strand
chrX:120,181,462-120,183,796
(GRCh37/hg19)

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.

Other Protein References for GLUD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GLUD2 Gene

Gene Families for GLUD2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

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

Phenotypes From GWAS Catalog 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:0016639 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor IEA --
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

Inhibitory RNA 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

Subcellular locations from the

Human Protein Atlas (HPA)

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
NADH Approved Nutra Target 0
Ammonia Approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA 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 33
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Glud1 34
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GLUD1 34
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
ManyToMany
-- 34
  • 87 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 85 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii glud1a 34
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gdh 35 34
  • 66 (a)
CG4434 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea ZK829.4 35
  • 62 (a)
gdh-1 34
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDH1 34 36
  • 25 (a)
ManyToMany
GDH3 34
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10003 34
  • 66 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11667 33
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 Variation AA Info Type
rs9697983 pathogenic, Parkinson disease, late-onset 121,049,176(+) T/G coding_sequence_variant, missense_variant
rs1000038005 -- 121,047,455(+) T/G upstream_transcript_variant
rs1002142070 -- 121,047,892(+) G/A coding_sequence_variant, missense_variant
rs1003134479 -- 121,048,515(+) C/T coding_sequence_variant, synonymous_variant
rs1008883661 -- 121,047,452(+) G/T upstream_transcript_variant

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)

Additional Variant Information 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: OMIM, ClinVar, GTR, DISEASES, and GeneCards

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

Additional Disease Information for GLUD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 1994) 2 3 4 22 58
  2. Nerve tissue-specific human glutamate dehydrogenase that is thermolabile and highly regulated by ADP. (PMID: 9109504) Shashidharan P … Plaitakis A (Journal of neurochemistry 1997) 2 3 22 58
  3. Alpha helical structures in the leader sequence of human GLUD2 glutamate dehydrogenase responsible for mitochondrial import. (PMID: 22709669) Kotzamani D … Plaitakis A (Neurochemistry international 2012) 3 4 58
  4. Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset. (PMID: 19826450) Plaitakis A … Spanaki C (European journal of human genetics : EJHG 2010) 3 44 58
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need AC … Goldstein DB (European journal of human genetics : EJHG 2009) 3 44 58

Products for GLUD2 Gene

Sources for GLUD2 Gene

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