| Type | Description |
|---|---|
| Definition | ATPase H+ transporting V0 subunit a2 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:49:00 | Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils. | 31925882 |
| 2020-09-12 15:59:00 | ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. | 29952037 |
| 2019-03-16 10:12:00 | Exome sequence analysis for the proband led to the identification of novel homozygous frameshift c.2085_2088del (p.(Ser695Argfs*12)) in ATP6V0A2, within the linked region, in the two affected siblings. | 30474613 |
| 2019-03-02 12:19:00 | Low ATP6V0A2 expression is associated with asthenozoospermia. | 30550884 |
| 2018-12-22 12:13:00 | Data suggest that missense mutations in ATP6V0A2 and ATP6V0A4 that cause either cutis laxa or distal renal tubular acidosis result in enzyme subunits that are unstable, retained in endoplasmic reticulum (rather than transported to Golgi and cell membrane), and quickly degraded by proteasomes despite full glycosylation. | 29311258 |
| Type | IDs |
|---|---|
| Synonymous | A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS |
| Gene |
UniProtKB-ID:
VPP2_HUMAN
UniprotKB:
Q9Y487
UniParc:
UPI00001AFC09
EMBL:
AK289391,
BC068531,
CH471054,
AF112972
Ensembl:
ENSG00000185344
KO:
hsa:23545
|
| Nucleutide sequences |
EMBL-CDS:
AAH68531.1,
BAF82080.1,
EAW98434.1,
AAD04632.1
Ensembl_TRS:
ENST00000330342
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000332247
RefSeq:
XP_024304679.1,
NP_036595.2,
XP_024304680.1,
XP_024304678.1
|
| Others |
UniRef100:
UniRef100_Q9Y487
UniRef90:
UniRef90_Q9Y487
UniRef50:
UniRef50_Q9Y487
UniGene:
Hs.25786
CCDS:
CCDS9254.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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