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79572 ATP13A3

79572

ATP13A3

ATPase 13A3

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase 13A3

研究结论

Date Results Publications
2020-07-25 10:13:00 In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns 30679663
2018-12-01 11:43:00 Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in heritable pulmonary arterial hypertension. 29650961
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-09-15 22:06:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086

名称对应

Type IDs
Synonymous AFURS1
Gene
UniProtKB-ID: AT133_HUMAN
UniprotKB: Q9H7F0
UniParc: UPI00018E1800, UPI000049DFC3
EMBL: AC108676, AC125362, AK024639, AK075094, AJ306929
Ensembl: ENSG00000133657
KO: hsa:79572
Nucleutide sequences
EMBL-CDS: CAC84902.1, BAC11398.1, BAB14942.1
Ensembl_TRS: ENST00000645538, ENST00000439040, ENST00000256031
Protein sequencees
Ensembl_PRO: ENSP00000416508, ENSP00000256031, ENSP00000494471
RefSeq: NP_001361765.1, NP_001354478.1, XP_011511423.1, XP_011511425.1, XP_011511426.1, NP_078800.3, XP_005269414.1
Others
UniRef100: UniRef100_Q9H7F0
UniRef90: UniRef90_Q9H7F0
UniRef50: UniRef50_Q9H7F0
UniGene: Hs.529609
CCDS: CCDS43187.1

全选

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研究热度

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