DDO (D-aspartate oxidase)

2014-11-01  

Identity

HGNC
DDO
LOCATION
6q21
LOCUSID
8528
ALIAS
DASOX,DDO-1,DDO-2

Other Information

Locus ID:

NCBI: 8528
MIM: 124450
HGNC: 2727
Ensembl: ENSG00000203797

Variants:

dbSNP: 8528
ClinVar: 8528
TCGA: ENSG00000203797
COSMIC: DDO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203797ENST00000368923Q99489
ENSG00000203797ENST00000368924Q99489
ENSG00000203797ENST00000479373F2Z2E0

Expression (GTEx)

0
5
10
15
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
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451729topotecanChemicalMultilinkAnnotationassociated24444404

References

Pubmed IDYearTitleCitations
378058342023On the regulation of human D-aspartate oxidase.1
378058342023On the regulation of human D-aspartate oxidase.1
355029312022Genetic variants in DDO and PEX5L in peroxisome-related pathways predict non-small cell lung cancer survival.1
359150652022D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.9
355029312022Genetic variants in DDO and PEX5L in peroxisome-related pathways predict non-small cell lung cancer survival.1
359150652022D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.9
336501552021Cellular studies of the two main isoforms of human d-aspartate oxidase.2
336501552021Cellular studies of the two main isoforms of human d-aspartate oxidase.2
319146582020Structure and kinetic properties of human d-aspartate oxidase, the enzyme-controlling d-aspartate levels in brain.10
319146582020Structure and kinetic properties of human d-aspartate oxidase, the enzyme-controlling d-aspartate levels in brain.10
297291882018Atopic asthma after rhinovirus-induced wheezing is associated with DNA methylation change in the SMAD3 gene promoter.24
297291882018Atopic asthma after rhinovirus-induced wheezing is associated with DNA methylation change in the SMAD3 gene promoter.24
282551102017Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age.22
286298642017Structure-function relationships in human d-aspartate oxidase: characterisation of variants corresponding to known single nucleotide polymorphisms.3
282551102017Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age.22

Citation

Dessen P

DDO (D-aspartate oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62353