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Aliases for ATP6V0A2 Gene

Aliases for ATP6V0A2 Gene

  • ATPase, H+ Transporting, Lysosomal V0 Subunit A2 2 3
  • Lysosomal H(+)-Transporting ATPase V0 Subunit A2 3 4
  • Infantile Malignant Osteopetrosis 2 2
  • TJ6 3 4
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 2 4
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 2 2
  • Vacuolar Proton Translocating ATPase 116 KDa Subunit A 3
  • V-Type Proton ATPase 116 KDa Subunit A 3
  • Regeneration And Tolerance Factor 3
  • V-ATPase 116 KDa Isoform A2 4
  • V-ATPase 116 KDa 3
  • A2V-ATPase 3
  • ATP6N1D 3
  • ARCL2A 3
  • ATP6A2 3
  • Stv1 3
  • Vph1 3
  • ARCL 3
  • J6B7 3
  • TJ6M 3
  • TJ6S 3
  • WSS 3
  • RTF 3
  • A2 3

External Ids for ATP6V0A2 Gene

Previous GeneCards Identifiers for ATP6V0A2 Gene

  • GC12P122772
  • GC12U900035
  • GC12P123920
  • GC12P122550
  • GC12P122549
  • GC12P122721
  • GC12P122762
  • GC12P124196
  • GC12P121158

Summaries for ATP6V0A2 Gene

Entrez Gene Summary for ATP6V0A2 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]

GeneCards Summary for ATP6V0A2 Gene

ATP6V0A2 (ATPase, H+ Transporting, Lysosomal V0 Subunit A2) is a Protein Coding gene. Diseases associated with ATP6V0A2 include autosomal recessive cutis laxa type 2, classic type and cutis laxa, autosomal recessive, type iia. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A1.

UniProtKB/Swiss-Prot for ATP6V0A2 Gene

  • Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.

Tocris Summary for ATP6V0A2 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V0A2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0A2 Gene

Genomics for ATP6V0A2 Gene

Regulatory Elements for ATP6V0A2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP6V0A2 Gene

Chromosome:
12
Start:
123,712,318 bp from pter
End:
123,761,755 bp from pter
Size:
49,438 bases
Orientation:
Plus strand

Genomic View for ATP6V0A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V0A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0A2 Gene

Proteins for ATP6V0A2 Gene

  • Protein details for ATP6V0A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y487-VPP2_HUMAN
    Recommended name:
    V-type proton ATPase 116 kDa subunit a isoform 2
    Protein Accession:
    Q9Y487
    Secondary Accessions:
    • A8K026
    • Q6NUM0

    Protein attributes for ATP6V0A2 Gene

    Size:
    856 amino acids
    Molecular mass:
    98082 Da
    Quaternary structure:
    • The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c, and c. Directly interacts with PSCD2 through its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this interaction results in the inhibition of endocytosis.

neXtProt entry for ATP6V0A2 Gene

Proteomics data for ATP6V0A2 Gene at MOPED

Post-translational modifications for ATP6V0A2 Gene

  • Ubiquitination at Lys 92, Lys 172, Lys 279, Lys 363, and Lys 374
  • Glycosylation at Asn 484 and Asn 505
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V0A2 Gene

Antibody Products

No data available for DME Specific Peptides for ATP6V0A2 Gene

Domains & Families for ATP6V0A2 Gene

Gene Families for ATP6V0A2 Gene

Protein Domains for ATP6V0A2 Gene

Suggested Antigen Peptide Sequences for ATP6V0A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y487

UniProtKB/Swiss-Prot:

VPP2_HUMAN :
  • Belongs to the V-ATPase 116 kDa subunit family.
Family:
  • Belongs to the V-ATPase 116 kDa subunit family.
genes like me logo Genes that share domains with ATP6V0A2: view

Function for ATP6V0A2 Gene

Molecular function for ATP6V0A2 Gene

UniProtKB/Swiss-Prot Function:
Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH.

Gene Ontology (GO) - Molecular Function for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16415858
GO:0015078 hydrogen ion transmembrane transporter activity --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0051117 ATPase binding IBA --
genes like me logo Genes that share ontologies with ATP6V0A2: view

Phenotypes for ATP6V0A2 Gene

genes like me logo Genes that share phenotypes with ATP6V0A2: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V0A2 Gene

Localization for ATP6V0A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0A2 Gene

Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0A2 Gene COMPARTMENTS Subcellular localization image for ATP6V0A2 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain IEA --
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IDA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ATP6V0A2: view

Pathways & Interactions for ATP6V0A2 Gene

genes like me logo Genes that share pathways with ATP6V0A2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0006955 immune response TAS 2247090
GO:0007035 vacuolar acidification IBA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015986 ATP synthesis coupled proton transport IBA --
genes like me logo Genes that share ontologies with ATP6V0A2: view

No data available for SIGNOR curated interactions for ATP6V0A2 Gene

Drugs & Compounds for ATP6V0A2 Gene

(2) Drugs for ATP6V0A2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V0A2 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2
genes like me logo Genes that share compounds with ATP6V0A2: view

Transcripts for ATP6V0A2 Gene

Unigene Clusters for ATP6V0A2 Gene

ATPase, H+ transporting, lysosomal V0 subunit a2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP6V0A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22
SP1: - - - -
SP2:
SP3:
SP4: -

Relevant External Links for ATP6V0A2 Gene

GeneLoc Exon Structure for
ATP6V0A2
ECgene alternative splicing isoforms for
ATP6V0A2

Expression for ATP6V0A2 Gene

mRNA expression in normal human tissues for ATP6V0A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6V0A2 Gene

This gene is overexpressed in Nasal epithelium (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V0A2 Gene



SOURCE GeneReport for Unigene cluster for ATP6V0A2 Gene Hs.25786

genes like me logo Genes that share expression patterns with ATP6V0A2: view

Protein tissue co-expression partners for ATP6V0A2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP6V0A2 Gene

Orthologs for ATP6V0A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0A2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V0A2 35
  • 88.97 (n)
  • 93.08 (a)
ATP6V0A2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V0A2 35
  • 89.48 (n)
  • 94.95 (a)
ATP6V0A2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v0a2 35
  • 84.23 (n)
  • 91.59 (a)
Atp6v0a2 16
Atp6v0a2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0A2 35
  • 99.45 (n)
  • 99.88 (a)
ATP6V0A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0a2 35
  • 84 (n)
  • 91.59 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V0A2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0A2 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0A2 35
  • 72.32 (n)
  • 73.44 (a)
ATP6V0A2 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V0A2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0a2 35
  • 68.51 (n)
  • 68.51 (a)
zebrafish
(Danio rerio)
Actinopterygii atp6v0a2b 35
  • 66.55 (n)
  • 69.56 (a)
atp6v0a2a 36
  • 67 (a)
OneToMany
atp6v0a2b 36
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7678 37
  • 42 (a)
Vha100-2 37
  • 44 (a)
Vha100-1 36
  • 45 (a)
ManyToMany
Vha100-2 36
  • 46 (a)
ManyToMany
Vha100-3 36
  • 33 (a)
ManyToMany
Vha100-4 36
  • 43 (a)
ManyToMany
Vha100-5 36
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-5 37
  • 39 (a)
vha-7 37
  • 35 (a)
unc-32 36
  • 43 (a)
ManyToMany
vha-5 36
  • 39 (a)
ManyToMany
vha-6 36
  • 41 (a)
ManyToMany
vha-7 36
  • 27 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STV1 36
  • 34 (a)
ManyToMany
VPH1 36
  • 36 (a)
ManyToMany
soybean
(Glycine max)
eudicotyledons Gma.12518 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
Species with no ortholog for ATP6V0A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V0A2 Gene

ENSEMBL:
Gene Tree for ATP6V0A2 (if available)
TreeFam:
Gene Tree for ATP6V0A2 (if available)

Paralogs for ATP6V0A2 Gene

Paralogs for ATP6V0A2 Gene

(5) SIMAP similar genes for ATP6V0A2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ATP6V0A2: view

Variants for ATP6V0A2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0A2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs954956 -- 123,726,578(-) GATGC(C/T)TGAAT intron-variant
rs954957 -- 123,726,404(-) TATTC(A/C)CTATG intron-variant
rs968203 -- 123,727,017(+) AAAAT(A/G)GAAAT intron-variant
rs968204 -- 123,727,132(+) CTGGA(A/G)AGGTG intron-variant
rs1040156 -- 123,738,817(+) TTTTC(A/G)TGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0A2 Gene

Variant ID Type Subtype PubMed ID
nsv832534 CNV Loss 17160897
esv2619454 CNV Insertion 19546169
esv1436194 CNV Insertion 17803354
esv2746510 CNV Deletion 23290073
esv2746511 CNV Deletion 23290073
esv2274657 CNV Deletion 18987734
esv2746512 CNV Deletion 23290073
esv993337 CNV Deletion 20482838

Variation tolerance for ATP6V0A2 Gene

Residual Variation Intolerance Score: 31.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0A2 Gene

HapMap Linkage Disequilibrium report
ATP6V0A2
Human Gene Mutation Database (HGMD)
ATP6V0A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0A2 Gene

Disorders for ATP6V0A2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ATP6V0A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive cutis laxa type 2, classic type
  • arcl2, debré type
cutis laxa, autosomal recessive, type iia
  • arcl2a
wrinkly skin syndrome
  • weaver syndrome
atp6v0a2-related cutis laxa
  • cutis laxa, autosomal recessive, type iia
weaver syndrome
  • weaver-williams syndrome
- elite association

UniProtKB/Swiss-Prot

VPP2_HUMAN
  • Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM:219200]: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. {ECO:0000269 PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wrinkly skin syndrome (WSS) [MIM:278250]: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay. {ECO:0000269 PubMed:18157129}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP6V0A2

Genetic Association Database (GAD)
ATP6V0A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0A2
genes like me logo Genes that share disorders with ATP6V0A2: view

No data available for Genatlas for ATP6V0A2 Gene

Publications for ATP6V0A2 Gene

  1. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (PMID: 19171192) Guillard M. … Wevers R.A. (Biochim. Biophys. Acta 2009) 23 67
  2. SLC28 genes and concentrative nucleoside transporter (CNT) proteins. (PMID: 18668436) Pastor-Anglada M. … Casado F.J. (Xenobiotica 2008) 23 67
  3. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (PMID: 18157129) Kornak U. … Mundlos S. (Nat. Genet. 2008) 2 67
  4. The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co- culture with JEG-3 choriocarcinoma cells. (PMID: 17295899) Ntrivalas E. … Beaman K. (Am. J. Reprod. Immunol. 2007) 23 67
  5. Cloning, expression and functional characterization of the putative regeneration and tolerance factor (RTF/TJ6) as a functional vacuolar ATPase proton pump regulatory subunit with a conserved sequence of immunoreceptor tyrosine-based activation motif. (PMID: 16113235) Babichev Y. … Isakov N. (Int. Immunol. 2005) 23 67

Products for ATP6V0A2 Gene

Sources for ATP6V0A2 Gene

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