GLUD2 (glutamate dehydrogenase 2)

2018-02-01  

Identity

HGNC
GLUD2
LOCATION
Xq24
LOCUSID
2747
ALIAS
GDH2,GLUDP1

Other Information

Locus ID:

NCBI: 2747
MIM: 300144
HGNC: 4336
Ensembl: ENSG00000182890

Variants:

dbSNP: 2747
ClinVar: 2747
TCGA: ENSG00000182890
COSMIC: GLUD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182890ENST00000328078P49448
ENSG00000182890ENST00000328078A0A140VK14

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
D-Glutamine and D-glutamate metabolismKEGGko00471
Nitrogen metabolismKEGGko00910
Arginine biosynthesisKEGGhsa00220
D-Glutamine and D-glutamate metabolismKEGGhsa00471
Nitrogen metabolismKEGGhsa00910
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amino acid synthesis and interconversion (transamination)REACTOMER-HSA-70614

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153780632004Birth and adaptive evolution of a hominoid gene that supports high neurotransmitter flux.67
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
252253642014Hominoid-specific enzyme GLUD2 promotes growth of IDH1R132H glioma.35
186882712008Mitochondrial targeting adaptation of the hominoid-specific glutamate dehydrogenase driven by positive Darwinian selection.24
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
194487442009Human GLUD1 and GLUD2 glutamate dehydrogenase localize to mitochondria and endoplasmic reticulum.14
214204582011The human GLUD2 glutamate dehydrogenase and its regulation in health and disease.14
201945012010Human GLUD2 glutamate dehydrogenase is expressed in neural and testicular supporting cells.13
198264502010Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset.12
198264502010Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset.12

Citation

Dessen P

GLUD2 (glutamate dehydrogenase 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57341/glud2