Gene Gene information from NCBI Gene database.
Entrez ID 23545
Gene name ATPase H+ transporting V0 subunit a2
Gene symbol ATP6V0A2
Synonyms (NCBI Gene)
A2ARCLARCL2AATP6A2ATP6N1DJ6B7RTFSTV1TJ6TJ6MTJ6SVPH1WSSa2V
Chromosome 12
Chromosome location 12q24.31
Summary The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs80356753 A>G Pathogenic Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs80356754 C>- Pathogenic Frameshift variant, coding sequence variant
rs80356755 G>T Pathogenic Coding sequence variant, stop gained
rs80356756 A>- Pathogenic-likely-pathogenic Frameshift variant, coding sequence variant
rs80356758 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT672124 hsa-miR-6895-5p HITS-CLIP 23824327
MIRT677125 hsa-miR-3158-5p HITS-CLIP 23824327
MIRT458184 hsa-miR-2467-3p HITS-CLIP 23824327
MIRT672123 hsa-miR-4755-3p HITS-CLIP 23824327
MIRT672122 hsa-miR-4284 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TEAD1 Activation 15878913
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 32001091
GO:0000220 Component Vacuolar proton-transporting V-type ATPase, V0 domain IEA
GO:0001669 Component Acrosomal vesicle IEA
GO:0005515 Function Protein binding IPI 16415858
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611716 18481 ENSG00000185344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y487
Protein name V-type proton ATPase 116 kDa subunit a 2 (V-ATPase 116 kDa subunit a 2) (Lysosomal H(+)-transporting ATPase V0 subunit a 2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2)
Protein function Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01496 V_ATPase_I 27 842 V-type ATPase 116kDa subunit family Family
Sequence
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEE
LERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRK
NLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLI
NQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKK
ICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVI
QVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNII
PTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV
MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFG
SGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLA
TNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGY
LIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSV
PVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCRE
MACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVLWAMLMRVGLR
VDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPF
SF
SLLSSKFNNDDSVA
Sequence length 856
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Lysosome
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Tuberculosis
Human papillomavirus infection
Rheumatoid arthritis
  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Ion channel transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
682
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALG9 congenital disorder of glycosylation Likely pathogenic; Pathogenic rs374480381, rs2135920743, rs750984566, rs2135879573, rs80356758, rs80356750, rs767257316, rs2541871623, rs2135887401, rs1593915216, rs1956632157, rs776509864, rs745590426, rs1039808574, rs372852652
View all (12 more)
RCV003502514
RCV001387990
RCV003609191
RCV001985792
RCV005055499
RCV003502506
RCV003062556
RCV003058403
RCV002797313
RCV002848362
RCV002851954
RCV003063983
RCV000689436
RCV003504570
RCV003502171
RCV003609476
RCV003610175
RCV003610439
RCV003608776
RCV003608745
RCV003610715
RCV003849744
RCV003861084
RCV003502507
RCV001042830
RCV001248468
RCV001242368
Cutis laxa Pathogenic; Likely pathogenic rs80356750, rs2541878282, rs745590426 RCV004579513
RCV003123476
RCV002265727
Cutis laxa with osteodystrophy Likely pathogenic; Pathogenic rs374480381, rs1220385043, rs80356758, rs80356750, rs767257316, rs2541822774, rs745590426, rs1039808574, rs372852652, rs80356756, rs367543007, rs80356751, rs80356753, rs1566294545, rs1956462432
View all (1 more)
RCV002498429
RCV003485991
RCV000000887
RCV000000888
RCV005010898
RCV002789998
RCV005008254
RCV005013034
RCV005013044
RCV000020684
RCV000020685
RCV000020688
RCV000020690
RCV000032647
RCV001290336
RCV001290340
Lung cancer Pathogenic rs80356751 RCV005887594
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATP6V0A2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs138716143, rs199698721, rs143142641, rs150508296, rs138276982, rs138886791, rs7969410, rs189175284, rs142454880, rs373099643, rs1442099245, rs139785866, rs370511382, rs1956367944, rs2541868632
View all (13 more)
RCV003915081
RCV004757411
RCV003895048
RCV003907567
RCV003936702
RCV003917736
RCV003919901
RCV003920076
RCV003957452
RCV003929280
RCV003929324
RCV003967885
RCV003896768
RCV003964544
RCV003901456
RCV003899336
RCV003964148
RCV003937228
RCV003983626
RCV003897705
RCV004757203
RCV003940172
RCV003902573
RCV003915336
RCV003935681
RCV003965460
RCV003948030
RCV004757292
ATP6VOA2-related disorder Uncertain significance rs144499089 RCV005863095
Cutis Laxa, Recessive Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs150508296, rs540324717, rs886049074, rs886049075, rs886049058, rs375845531, rs747772644, rs772714418, rs561163813, rs150303181 RCV000364298
RCV000325607
RCV000342083
RCV000277620
RCV000331533
RCV000295227
RCV000262548
RCV000377536
RCV000383636
RCV000291376
Gastric cancer Benign rs370511382 RCV005868011
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 24815469
Arthritis Rheumatoid Associate 8843857
Breast Neoplasms Associate 27146324, 37090185
Carcinogenesis Associate 26919236
Carcinoma Non Small Cell Lung Associate 20716340, 26919236
Congenital Disorders of Glycosylation Associate 29759592, 29869806, 33407696
Cutis Laxa Autosomal Recessive Type I Associate 19321599
Cutis Laxa Autosomal Recessive Type IIA Associate 30474613
Cutis Laxa Autosomal Recessive Type IIA Inhibit 30474613
Epilepsy Associate 23963297