ADA (adenosine deaminase)

2006-10-01  

Identity

HGNC
ADA
LOCATION
20q13.12
LOCUSID
100
ALIAS
ADA1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 100
MIM: 608958
HGNC: 186
Ensembl: ENSG00000196839

Variants:

dbSNP: 100
ClinVar: 100
TCGA: ENSG00000196839
COSMIC: ADA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196839ENST00000372874P00813
ENSG00000196839ENST00000372874A0A0S2Z381
ENSG00000196839ENST00000536532F5GXW0
ENSG00000196839ENST00000537820F5GWI4
ENSG00000196839ENST00000539235F5GYD4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Purine metabolismKEGGko00230
Primary immunodeficiencyKEGGko05340
Purine metabolismKEGGhsa00230
Primary immunodeficiencyKEGGhsa05340
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
242576132014Adenosine deaminase acts as a natural antagonist for dipeptidyl peptidase 4-mediated entry of the Middle East respiratory syndrome coronavirus.78
166702672006Endothelial catabolism of extracellular adenosine during hypoxia: the role of surface adenosine deaminase and CD26.65
159833792005CD26, adenosine deaminase, and adenosine receptors mediate costimulatory signals in the immunological synapse.54
205546942010Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption.45
194701682009NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.42
229425002012Heritability of performance deficit accumulation during acute sleep deprivation in twins.41
217342532012Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans.40
221844072012Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID.38
204531072010Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages.36

Citation

Dessen P

ADA (adenosine deaminase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43101/ada-(adenosine-deaminase)