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51816 ADA2

51816

ADA2

adenosine deaminase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition adenosine deaminase 2

研究结论

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

名称对应

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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