Type | Description |
---|---|
Definition | ATPase H+ transporting V1 subunit B2 |
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 |
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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