• Gene id: 2747

Gene Summary

• Gene Symbol: GLUD2   Gene   UCSC   Ensembl
• Aliases: GDH2, GLUDP1
• Gene name: glutamate dehydrogenase 2
• Alternate names: glutamate dehydrogenase 2, mitochondrial, GDH 2, glutamate dehydrogenase pseudogene 1, testicular secretory protein Li 14,
• Gene location: Xq24 (121047609: 121050093)     Exons: 1     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300144

Protein Summary

• Protein general information: P49448  
  • Name: Glutamate dehydrogenase 2, mitochondrial (GDH 2) (EC 1.4.1.3)
  • Length: 558  
  • Mass: 61434
  • Tissue specificity: Expressed in retina, testis and, at a lower level, brain.
• Sequence:

  MYRYLAKALLPSRAGPAALGSAANHSAALLGRGRGQPAAASQPGLALAARRHYSELVADREDDPNFFKMVEGFFD
  RGASIVEDKLVKDLRTQESEEQKRNRVRGILRIIKPCNHVLSLSFPIRRDDGSWEVIEGYRAQHSQHRTPCKGGI
  RYSTDVSVDEVKALASLMTYKCAVVDVPFGGAKAGVKINPKNYTENELEKITRRFTMELAKKGFIGPGVDVPAPD
  MNTGEREMSWIADTYASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFR
  DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILGFPKAKPYEGSILEVD
  CDILIPAATEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLERNILVIPDLYLNAGGVTVSYFEWLKNLNHVS
  YGRLTFKYERDSNYHLLLSVQESLERKFGKHGGTIPIVPTAEFQDSISGASEKDIVHSALAYTMERSARQIMHTA
  MKYNLGLDLRTAAYVNAIEKVFKVYSEAGVTFT

• Structural information:
  • Interpro: IPR006095  IPR033524  IPR006096  IPR006097  IPR036291   IPR033922  
  • Prosite: PS00074
  • CDD: cd01076
  • PDB: 6G2U
  • PDBsum: 6G2U
  • STRING: ENSP00000327589
• Other Databases: GeneCards:  GLUD2  Malacards:  GLUD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004352	glutamate dehydrogenase (NAD+) activity	IBA	molecular function
GO:0006538	glutamate catabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016639	oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity	IEA	molecular function
GO:0004353	glutamate dehydrogenase [NAD(P)+] activity	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0070728	leucine binding	IDA	molecular function
GO:0005829	cytosol	IDA	NOT|cellular component
GO:0006537	glutamate biosynthetic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006538	glutamate catabolic process	IDA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0004352	glutamate dehydrogenase (NAD+) activity	IDA	molecular function
GO:0006536	glutamate metabolic process	IDA	biological process
GO:0004352	glutamate dehydrogenase (NAD+) activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04217	Necroptosis
hsa01200	Carbon metabolism
hsa00250	Alanine, aspartate and glutamate metabolism
hsa04964	Proximal tubule bicarbonate reclamation
hsa00910	Nitrogen metabolism
hsa00220	Arginine biosynthesis
hsa00471	D-Glutamine and D-glutamate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881