Type | Description |
---|---|
Definition | adenosine deaminase 2 |
Date | Results | Publications |
---|---|---|
2021-03-28 19:06:00 | Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. | 33021335 |
2020-10-10 13:02:00 | Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach. | 31974608 |
2020-02-29 10:32:00 | In children with deficiency of ADA2 (DADA2) (5 with polyarteritis nodosa, 3 with unclassifiable vasculitis, and 1 with ANCA-associated vasculitis), 1 patient had no rare variants in the coding region of ADA2 and 8 had biallelic, rare variants (minor allele frequency <0.01) with a known association with DADA2 (p.Gly47Arg and p.Gly47Ala) or a novel association (p.Arg9Trp, p.Leu351Gln, and p.Ala357Thr). | 31008556 |
2020-02-22 10:38:00 | Description of three families with the same homozygous splice site mutation in ADA2 and observed a novel combination of manifestations resembling Behcet's disease. | 31856934 |
2020-01-18 11:11:00 | These results suggest that neutrophils may play a pathogenic role in DADA2. Modulation of adenosine-mediated NET formation may contribute a novel and directed therapeutic approach in the treatment of DADA2 and potentially other inflammatory diseases. | 31015188 |
Type | IDs |
---|---|
Synonymous | ADGF, CECR1, IDGFL, PAN, SNEDS |
Gene |
UniProtKB-ID:
ADA2_HUMAN,
B4E3Q4_HUMAN,
A0A087X0I3_HUMAN
UniprotKB:
Q9NZK5,
B4E3Q4,
A0A087X0I3
UniParc:
UPI0000E06AFA,
UPI00017A8909,
UPI000015F376,
UPI000013D2E8
EMBL:
CR456417,
KF457351,
AK304818,
AK074702,
AC005300,
AK027682,
CH471193,
BC051755,
AK292689,
KF457344,
AF190746,
AC005399
Ensembl:
ENSG00000093072
KO:
hsa:51816
|
Nucleutide sequences |
EMBL-CDS:
EAW57750.1,
BAB55293.1,
AAH51755.1,
BAF85378.1,
CAG30303.1,
AAF65941.1,
BAC11148.1,
BAG65566.1
Ensembl_TRS:
ENST00000399837,
ENST00000399839,
ENST00000330232,
ENST00000262607,
ENST00000449907,
ENST00000649540,
ENST00000610390
|
Protein sequencees |
Ensembl_PRO:
ENSP00000382731,
ENSP00000262607,
ENSP00000382733,
ENSP00000332871,
ENSP00000497469,
ENSP00000406443,
ENSP00000483418
RefSeq:
NP_001269156.1,
XP_006724143.1,
NP_001269157.1,
NP_803124.1,
XP_011544435.1,
NP_001269158.1,
NP_001269154.1,
NP_001269155.1
|
Others |
UniRef100:
UniRef100_Q9NZK5
UniRef90:
UniRef90_Q9NZK5
UniRef50:
UniRef50_Q9NZK5
UniGene:
Hs.170310
CCDS:
CCDS13742.1,
CCDS13743.1
|
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---|---|---|---|---|---|---|---|---|
Refseq |
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