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
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
256895732015A role for D-aspartate oxidase in schizophrenia and in schizophrenia-related symptoms induced by phencyclidine in mice.13
282551102017Methylome-wide association study of whole blood DNA in the Norfolk Island isolate identifies robust loci associated with age.7
297291882018Atopic asthma after rhinovirus-induced wheezing is associated with DNA methylation change in the SMAD3 gene promoter.7
257479902015Characterization of the enzymatic and structural properties of human D-aspartate oxidase and comparison with those of the rat and mouse enzymes.5
191251102009No association between the D-aspartate oxidase locus and schizophrenia.1
286298642017Structure-function relationships in human d-aspartate oxidase: characterisation of variants corresponding to known single nucleotide polymorphisms.0

Citation

Dessen P

DDO (D-aspartate oxidase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62353/ddo-(d-aspartate-oxidase)