Gene Gene information from NCBI Gene database.
Entrez ID 2747
Gene name Glutamate dehydrogenase 2
Gene symbol GLUD2
Synonyms (NCBI Gene)
GDH2GLUDP1
Chromosome X
Chromosome location Xq24
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
miRNA miRNA information provided by mirtarbase database.
124
miRTarBase ID miRNA Experiments Reference
MIRT036419 hsa-miR-1226-3p CLASH 23622248
MIRT725498 hsa-miR-7151-5p HITS-CLIP 19536157
MIRT725497 hsa-miR-885-5p HITS-CLIP 19536157
MIRT725495 hsa-miR-4790-3p HITS-CLIP 19536157
MIRT725496 hsa-miR-580-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0004352 Function Glutamate dehydrogenase (NAD+) activity IBA
GO:0004352 Function Glutamate dehydrogenase (NAD+) activity IDA 8207021, 15578726
GO:0004352 Function Glutamate dehydrogenase (NAD+) activity IEA
GO:0004353 Function Glutamate dehydrogenase [NAD(P)+] activity IDA 11032875
GO:0004353 Function Glutamate dehydrogenase [NAD(P)+] activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300144 4336 ENSG00000182890
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49448
Protein name Glutamate dehydrogenase 2, mitochondrial (GDH 2) (EC 1.4.1.3)
Protein function Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.
PDB 6G2U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02812 ELFV_dehydrog_N 112 242 Glu/Leu/Phe/Val dehydrogenase, dimerisation domain Domain
PF00208 ELFV_dehydrog 263 463 Glutamate/Leucine/Phenylalanine/Valine dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in retina, testis and, at a lower level, brain.
Sequence
MYRYLAKALLPSRAGPAALGSAANHSAALLGRGRGQPAAASQPGLALAARRHYSELVADR
EDDPNFFKMVEGFFDRGASIVEDKLVKDLRTQESEEQKRNRVRGILRIIKPCNHVLSLSF
PIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFG
GAKAGVKINPKNYTENELEKITRRFTMELAKKGFIGPGVDVPAPDMNTGEREMSWIADTY
AS
TIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFR
DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILG
FPKAKPYEGSILEVDCDILIPAATEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLER
NILVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSN
YHLLLSVQESLERKFGK
HGGTIPIVPTAEFQDSISGASEKDIVHSALAYTMERSARQIMHTAMKYNLGLDLRTAAYV
NAIEKVFKVYSEAGVTFT
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine biosynthesis
Alanine, aspartate and glutamate metabolism
Nitrogen metabolism
Metabolic pathways
Carbon metabolism
Necroptosis
Proximal tubule bicarbonate reclamation
  Transcriptional activation of mitochondrial biogenesis
Glutamate and glutamine metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility with azoospermia or oligozoospermia due to single gene mutation Likely pathogenic rs140532390 RCV003991610
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GLUD2-related disorder Conflicting classifications of pathogenicity rs9697983 RCV003974852
Parkinson disease, late-onset Uncertain significance; Conflicting classifications of pathogenicity rs1477335987, rs9697983 RCV003447858
RCV000022827
See cases Conflicting classifications of pathogenicity rs9697983 RCV002251924
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Psoriatic Associate 39684939
Breast Neoplasms Associate 23884293
Dermatitis Atopic Associate 39684939
Glioblastoma Associate 38150033
Glioma Associate 38150033
Inflammation Associate 39684939
Lymphoma Follicular Associate 38150033
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 38614076
Microphthalmia Syndromic 10 Associate 29207948
Neoplasms Associate 23884293