Property Summary

NCBI Gene PubMed Count 27
Grant Count 8
R01 Count 4
Funding $795,375
PubMed Score 25.06
PubTator Score 128.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (22)

Disease log2 FC p
cutaneous lupus erythematosus 2.100 0.001
osteosarcoma -3.499 0.000
astrocytoma 2.300 0.041
glioblastoma 1.500 0.014
periodontitis 1.600 0.000
primitive neuroectodermal tumor 1.100 0.021
Duchenne muscular dystrophy 1.060 0.000
tuberculosis 2.300 0.000
intraductal papillary-mucinous carcinoma... -1.200 0.033
diabetes mellitus -1.200 0.020
interstitial cystitis 1.300 0.024
pilocytic astrocytoma 1.700 0.000
primary Sjogren syndrome 1.500 0.015
subependymal giant cell astrocytoma 1.946 0.007
invasive ductal carcinoma 1.564 0.000
psoriasis 1.100 0.000
ductal carcinoma in situ 1.300 0.027
ulcerative colitis 2.200 0.000
ovarian cancer 1.600 0.000
Gaucher disease type 3 1.200 0.041
Breast cancer 2.200 0.034
head and neck cancer -1.600 0.002

Gene RIF (13)

PMID Text
26867732 This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation in CECR1.
26607704 IL-17 receptor A and adenosine deaminase 2 deficiency due to deletion mutations was found in siblings with chronic mucocutaneous candidiasis and chronic systemic inflammation.
25888558 In patients with unexplained young-onset lacunar stroke accompanied by systemic inflammation and a positive family history suspicious of recessively inherited disease, ADA2 deficiency needs to be considered in the differential diagnosis.
25815338 Ectopic expression of miR-146b-3p suppressed ADA2 expression, activity, and TNF-alpha release in the AGA-treated human macrophages
25278816 ADA2 (CECR1) may act as a regulator of neutrophil activation, and that a reduction of ADA2 activity results in significant endothelial damage via a neutrophil-driven process.
24737293 We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1.
24552285 Recessive loss-of-function mutations of ADA2, a growth factor that is the major extracellular adenosine deaminase, can cause polyarteritis nodosa vasculopathy with highly varied clinical expression.
24552284 Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis.
23685153 Increased ADA2 expression and activity are identified in human and porcine retinas with diabetes.
22558798 Plasma AD2 may have a role in determining tumour response to treatment.
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AA Sequence

MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELANERLMTLKIAE      1 - 70
MKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVTMDWLVRNVTYRPHCHICFTP     71 - 140
RGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDDSLLRNFTLVTQHPEVIYTNQNVVWSKFETI    141 - 210
FFTISGLIHYAPVFRDYVFRSMQEFYEDNVLYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETH    211 - 280
PEFIGIKIIYSDHRSKDVAVIAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVK    281 - 350
LPYFFHAGETDWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSD    351 - 420
LRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGIGGMKADLRTLKQLAMNSIKYSTLLESEK    421 - 490
NTFMEIWKKRWDKFIADVATK                                                     491 - 511
//

Text Mined References (31)

PMID Year Title
27663683 2016 Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells.
26867732 2016 Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
26607704 2016 IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25888558 2015 Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.
25815338 2015 MicroRNA-146b-3p regulates retinal inflammation by suppressing adenosine deaminase-2 in diabetes.
25278816 2014 Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
25075847 2014 Mutant ADA2 in vasculopathies.
24737293 2014 Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.
24552285 2014 Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
More...