Property Summary

NCBI Gene PubMed Count 35
PubMed Score 279.25
PubTator Score 551.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 2.17566321472634E-21
ependymoma 2514 7.0902511532382E-9
pediatric high grade glioma 2712 9.78438566228644E-9
pilocytic astrocytoma 3086 5.1294507742546E-8
atypical teratoid / rhabdoid tumor 4369 3.57530631501083E-7
glioblastoma 5572 5.03270663565889E-7
medulloblastoma, large-cell 6234 4.14145013042178E-6
osteosarcoma 7933 1.00195583301361E-5
primitive neuroectodermal tumor 3031 8.99326003707507E-5
group 3 medulloblastoma 2254 3.50697909619331E-4
tuberculosis and treatment for 6 months 686 9.21700946271746E-4
psoriasis 6685 0.00426389301857887
Disease Target Count Z-score Confidence
Cutis laxa 28 6.276 3.1
Disease Target Count Z-score Confidence
Osteopetrosis 40 5.525 2.8
Disease Target Count
Cutis laxa, autosomal recessive, 2A 1

Expression

  Differential Expression (12)

Synonym

Accession Q9Y487 A8K026 Q6NUM0 V-ATPase 116 kDa isoform a2
Symbols A2
RTF
TJ6
WSS
ARCL
J6B7
STV1
TJ6M
TJ6S
VPH1
ARCL2A
ATP6A2
ATP6N1D

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA Inparanoid
Xenopus OMA Inparanoid
S.cerevisiae OMA EggNOG

 GWAS Trait (1)

Gene RIF (18)

PMID Text
26611489 Senescence-associated impaired expression of ATP6V0A2 triggers changes in Golgi structure and glycosylation in old fibroblasts, which demonstrates a role of ATP6V0A2 in cellular senescence program.
26418877 the results from this study demonstrate that the a2-subunit isoform of Vacuolar ATPase regulates Notch signaling in breast tumor cells
25877929 The granule-associated a2V isoform has a role in maintaining a pH gradient within the cell between the cytosol and granules in neutrophils.
24815019 Case Report: novel ATP6V0A2 mutations in an infant with cutis laxa.
23936208 Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men.
22773132 Mutations in the ATP6V0A2 gene is associated with autosomal recessive cutis laxa.
21178005 A mechanism is described by which tumor-associated macrophages mature via a nontraditional cytokine-like signal, the a2NTD peptide.
20669186 Data show that the V-ATPase a2-subunit might actually be embedded into and/or closely associated with membrane phospholipids even in the absence of any obvious predicted transmembrane segments.
20153292 Specific motifs of the V-ATPase a2-subunit isoform interact with catalytic and regulatory domains of ARNO.
19401719 Studies indicate that mutations in the ATP6V0A2 gene were found in families with autosomal recessive cutis laxa.
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AA Sequence

MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQ      1 - 70
EINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVK     71 - 140
RNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDES    141 - 210
LEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKT    211 - 280
EDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESG    281 - 350
ATIPSFMNIIPTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV    351 - 420
MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYS    421 - 490
SSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLATNRLTFLNSFKMKMSVILGI    491 - 560
IHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGYLIFMIFYKWLVFSAETSRVAPSILIEFINM    561 - 630
FLFPASKTSGLYTGQEYVQRVLLVVTALSVPVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVS    631 - 700
LLGSQDIEEGNHQVEDGCREMACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVL    701 - 770
WAMLMRVGLRVDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPF    771 - 840
SFSLLSSKFNNDDSVA                                                          841 - 856
//

Text Mined References (39)

PMID Year Title
26611489 2015 Impaired ATP6V0A2 expression contributes to Golgi dispersion and glycosylation changes in senescent cells.
26418877 2015 The Vacuolar ATPase a2-subunit regulates Notch signaling in triple-negative breast cancer cells.
25877929 2015 Expression and role of a2 vacuolar-ATPase (a2V) in trafficking of human neutrophil granules and exocytosis.
24815019 2014 Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.
23936208 2013 Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22982048 2012 Lipofuscin is formed independently of macroautophagy and lysosomal activity in stress-induced prematurely senescent human fibroblasts.
22773132 2012 Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
22479202 2012 Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
21269460 2011 Initial characterization of the human central proteome.
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