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526 ATP6V1B2

526

ATP6V1B2

ATPase H+ transporting V1 subunit B2

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase H+ transporting V1 subunit B2

研究结论

Date Results Publications
2020-12-05 12:58:00 EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 31655144
2020-06-20 12:33:00 mutations in the human v-ATPase subunit ATP6V1B2 (also known as Vma2 in yeast) activate autophagic flux and maintain mTOR/TOR in an active state. 30720463
2019-12-21 12:39:00 atp6v1b2 knockdown zebrafish showed developmental defects in multiple organs and systems. However, Atp6v1b2 c.1516C>T knockin mice displayed obvious cognitive defects but normal hearing and cochlear morphology. Impaired hippocampal CA1 region and weaker interaction between the V1E and B2 subunits in Atp6v1b2(Arg506X//Arg506X) mice were observed. 31257146
2019-12-14 10:46:00 Serum autoantibodies to subunit B1 and subunit B2 of v-H(+) -ATPase in renal tubular acidosis patients may be responsible for impaired urinary acidification. 30821427
2019-01-05 10:28:00 Both B1 and B2 subunits of the V-ATPase are detectable in human urinary exosomes, and acid and alkali loading or distal renal tubular acidosis cause changes in the B1 but not B2 subunit abundance in urinary exosomes. 29310826

名称对应

Type IDs
Synonymous ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2
Gene
UniProtKB-ID: VATB2_HUMAN, A0A140VK65_HUMAN
UniprotKB: P21281, A0A140VK65
UniParc: UPI00001380AD
EMBL: Z37165, BC003100, CH471080, L35249, HM005605, X62949, M60346, BC030640, BC007309, AK312372
Ensembl: ENSG00000147416
KO: hsa:526
Nucleutide sequences
EMBL-CDS: AAH30640.1, AAA58661.1, EAW63758.1, AAA35610.1, CAA85522.1, BAG35290.1, AAH07309.1, EAW63759.1, CAA44721.1, AAH03100.1, AEE61202.1
Ensembl_TRS: ENST00000276390
Protein sequencees
Ensembl_PRO: ENSP00000276390
RefSeq: NP_001684.2
Others
UniRef100: UniRef100_P21281
UniRef90: UniRef90_P21281
UniRef50: UniRef50_P21281
UniGene: Hs.295917
CCDS: CCDS6014.1

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