Human Gene GLUD2 (ENST00000328078.3_4) from GENCODE V47lift37
  Description: glutamate dehydrogenase 2 (from RefSeq NM_012084.4)
Gencode Transcript: ENST00000328078.3_4
Gencode Gene: ENSG00000182890.5_8
Transcript (Including UTRs)
   Position: hg19 chrX:120,181,464-120,183,948 Size: 2,485 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrX:120,181,539-120,183,215 Size: 1,677 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:120,181,464-120,183,948)mRNA (may differ from genome)Protein (558 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DHE4_HUMAN
DESCRIPTION: RecName: Full=Glutamate dehydrogenase 2, mitochondrial; Short=GDH 2; EC=1.4.1.3; Flags: Precursor;
FUNCTION: Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.
CATALYTIC ACTIVITY: L-glutamate + H(2)O + NAD(P)(+) = 2- oxoglutarate + NH(3) + NAD(P)H.
SUBUNIT: Homohexamer (By similarity).
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Expressed in retina, testis and, at a lower level, brain.
PTM: Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer.
SIMILARITY: Belongs to the Glu/Leu/Phe/Val dehydrogenases family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GLUD2
Diseases sorted by gene-association score: parkinson disease, late-onset* (954)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.82 RPKM in Testis
Total median expression: 241.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.0075-0.213 Picture PostScript Text
3' UTR -172.40733-0.235 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006095 - Glu/Leu/Phe/Val_DH
IPR006096 - Glu/Leu/Phe/Val_DH_C
IPR006097 - Glu/Leu/Phe/Val_DH_dimer_dom
IPR016040 - NAD(P)-bd_dom

Pfam Domains:
PF00208 - Glutamate/Leucine/Phenylalanine/Valine dehydrogenase
PF02812 - Glu/Leu/Phe/Val dehydrogenase, dimerisation domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain
51984 - MurCD N-terminal domain
53223 - Aminoacid dehydrogenase-like, N-terminal domain

ModBase Predicted Comparative 3D Structure on P49448
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004352 glutamate dehydrogenase (NAD+) activity
GO:0004353 glutamate dehydrogenase [NAD(P)+] activity
GO:0005525 GTP binding
GO:0016491 oxidoreductase activity
GO:0016639 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor
GO:0043531 ADP binding
GO:0070728 leucine binding

Biological Process:
GO:0006520 cellular amino acid metabolic process
GO:0006536 glutamate metabolic process
GO:0006537 glutamate biosynthetic process
GO:0006538 glutamate catabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC050732 - Homo sapiens glutamate dehydrogenase 2, mRNA (cDNA clone MGC:60371 IMAGE:6164919), complete cds.
HM005554 - Homo sapiens clone HTL-S-14 testicular secretory protein Li 14 mRNA, complete cds.
AK313356 - Homo sapiens cDNA, FLJ93882, highly similar to Homo sapiens glutamate dehydrogenase 2 (GLUD2), mRNA.
JD129406 - Sequence 110430 from Patent EP1572962.
LF333911 - JP 2014500723-A/141414: Polycomb-Associated Non-Coding RNAs.
LF333931 - JP 2014500723-A/141434: Polycomb-Associated Non-Coding RNAs.
BC005111 - Homo sapiens glutamate dehydrogenase 2, mRNA (cDNA clone IMAGE:4026312), complete cds.
KJ901454 - Synthetic construct Homo sapiens clone ccsbBroadEn_10848 GLUD2 gene, encodes complete protein.
LF333932 - JP 2014500723-A/141435: Polycomb-Associated Non-Coding RNAs.
LF333933 - JP 2014500723-A/141436: Polycomb-Associated Non-Coding RNAs.
LF333937 - JP 2014500723-A/141440: Polycomb-Associated Non-Coding RNAs.
JD199195 - Sequence 180219 from Patent EP1572962.
JD420682 - Sequence 401706 from Patent EP1572962.
JD328657 - Sequence 309681 from Patent EP1572962.
JD130229 - Sequence 111253 from Patent EP1572962.
JD029818 - Sequence 10842 from Patent EP1572962.
JD466497 - Sequence 447521 from Patent EP1572962.
JD492836 - Sequence 473860 from Patent EP1572962.
JD475788 - Sequence 456812 from Patent EP1572962.
MA569488 - JP 2018138019-A/141414: Polycomb-Associated Non-Coding RNAs.
MA569508 - JP 2018138019-A/141434: Polycomb-Associated Non-Coding RNAs.
MA569509 - JP 2018138019-A/141435: Polycomb-Associated Non-Coding RNAs.
MA569510 - JP 2018138019-A/141436: Polycomb-Associated Non-Coding RNAs.
MA569514 - JP 2018138019-A/141440: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
ARGININE-SYN4-PWY - ornithine de novo biosynthesis
GLUDEG-I-PWY - GABA shunt
GLUTAMATE-SYN2-PWY - L-glutamate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P49448 (Reactome details) participates in the following event(s):

R-HSA-5688276 SIRT4 transfers ADPRib to GLUD
R-HSA-5688289 SIRT3 deacetylates ACCS2, GLUD, IDH2, SOD2
R-HSA-70589 alpha-ketoglutarate + NH4+ + NAD(P)H + H+ <=> glutamate + NAD(P)+ [GLUD1]
R-HSA-70600 glutamate + NAD(P)+ => alpha-ketoglutarate + NH4+ + NAD(P)H + H+ [GLUD1]
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8G0, DHE4_HUMAN, ENST00000328078.1, ENST00000328078.2, GLUDP1, NM_012084, P49448, Q9UDQ4, uc317skp.1, uc317skp.2
UCSC ID: ENST00000328078.3_4
RefSeq Accession: NM_012084.4
Protein: P49448 (aka DHE4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.