Seroatlas · Human Serome Atlas

ATP6V0A2

V-type proton ATPase 116 kDa subunit a 2

Also known as: a2, a2V, ATP6a2, ATP6N1D, J6B7, RTF, Stv1, TJ6, TJ6M, TJ6s, Vph1, VPP2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y487
Gene: ATP6V0A2
Ensembl: ENSG00000185344
Chromosome: 12
Canonical length: 856 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles,Plasma membrane,Focal adhesion sites,Connecting piece,Mid piece,Principal piece,End piece

OverviewNCBI Gene

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 cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

856 residues, UniProt reviewed canonical sequence.

>Q9Y487|ATP6V0A2
     1  MGSLFRSETM CLAQLFLQSG TAYECLSALG EKGLVQFRDL NQNVSSFQRK FVGEVKRCEE
    61  LERILVYLVQ EINRADIPLP EGEASPPAPP LKQVLEMQEQ LQKLEVELRE VTKNKEKLRK
   121  NLLELIEYTH MLRVTKTFVK RNVEFEPTYE EFPSLESDSL LDYSCMQRLG AKLGFVSGLI
   181  NQGKVEAFEK MLWRVCKGYT IVSYAELDES LEDPETGEVI KWYVFLISFW GEQIGHKVKK
   241  ICDCYHCHVY PYPNTAEERR EIQEGLNTRI QDLYTVLHKT EDYLRQVLCK AAESVYSRVI
   301  QVKKMKAIYH MLNMCSFDVT NKCLIAEVWC PEADLQDLRR ALEEGSRESG ATIPSFMNII
   361  PTKETPPTRI RTNKFTEGFQ NIVDAYGVGS YREVNPALFT IITFPFLFAV MFGDFGHGFV
   421  MFLFALLLVL NENHPRLNQS QEIMRMFFNG RYILLLMGLF SVYTGLIYND CFSKSVNLFG
   481  SGWNVSAMYS SSHPPAEHKK MVLWNDSVVR HNSILQLDPS IPGVFRGPYP LGIDPIWNLA
   541  TNRLTFLNSF KMKMSVILGI IHMTFGVILG IFNHLHFRKK FNIYLVSIPE LLFMLCIFGY
   601  LIFMIFYKWL VFSAETSRVA PSILIEFINM FLFPASKTSG LYTGQEYVQR VLLVVTALSV
   661  PVLFLGKPLF LLWLHNGRSC FGVNRSGYTL IRKDSEEEVS LLGSQDIEEG NHQVEDGCRE
   721  MACEEFNFGE ILMTQVIHSI EYCLGCISNT ASYLRLWALS LAHAQLSDVL WAMLMRVGLR
   781  VDTTYGVLLL LPVIALFAVL TIFILLIMEG LSAFLHAIRL HWVEFQNKFY VGAGTKFVPF
   841  SFSLLSSKFN NDDSVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V0A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 8
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 9.7 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 9.7 nTPM
skin: 8.9 nTPM
stomach: 8.3 nTPM
duodenum: 8.2 nTPM
lymph node: 7.8 nTPM
tonsil: 7.7 nTPM

Single-cell type

mast cells: 179 nCPM
megakaryocyte-erythroid progenitors: 174 nCPM
megakaryocyte progenitors: 168 nCPM
hematopoietic stem cells: 126 nCPM
erythrocyte progenitors: 83 nCPM
gonadotrophs: 64 nCPM

Immune cell

eosinophil: 14 nTPM
basophil: 6 nTPM
naive B-cell: 3.7 nTPM
plasmacytoid DC: 2.8 nTPM
neutrophil: 2 nTPM
naive CD8 T-cell: 1.8 nTPM

Brain region

white matter: 20 nTPM
cerebellum: 20 nTPM
choroid plexus: 19 nTPM
medulla oblongata: 19 nTPM
thalamus: 18 nTPM
cerebral cortex: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6V0A2.

Disease | AllUniProt

Conditions ATP6V0A2 is implicated in, by any mechanism.

Cutis laxa, autosomal recessive, 2A (ARCL2A) MIM:219200
Wrinkly skin syndrome (WSS) MIM:278250

Disease | GeneticClinVar

76 pathogenic / likely-pathogenic of 864 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ALG9 congenital disorder of glycosylation
Cutis laxa with osteodystrophy
Wrinkly skin syndrome
Cutis laxa
Lung cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.75
gnomAD pLI: 0
gnomAD missense Z: 0.95
DepMap mean gene effect: -0.18
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP6V0A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP6V0A2 as an antibody target. Whether an autoantibody or antibody against ATP6V0A2 could matter depends on whether native ATP6V0A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6V0A2 is annotated at the cell surface, where native ATP6V0A2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ATP6V0A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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