Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP6V0A2 Gene

Aliases for ATP6V0A2 Gene

  • ATPase H+ Transporting V0 Subunit A2 2 3
  • ATPase, H+ Transporting, Lysosomal V0 Subunit A2 2 3 5
  • 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
  • RTF 3
  • WSS 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 V0 Subunit A2) is a Protein Coding gene. Diseases associated with ATP6V0A2 include wrinkly skin syndrome and cutis laxa, autosomal recessive, type iia. Among its related pathways are Insulin receptor recycling and Lysosome. GO annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A4.

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

Enhancers for ATP6V0A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP6V0A2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V0A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V0A2 on UCSC Golden Path with GeneCards custom track

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

Genes around ATP6V0A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

HGNC:
IUPHAR :

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.

Phenotypes for ATP6V0A2 Gene

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

Human Phenotype Ontology for ATP6V0A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 3
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0016471 vacuolar proton-transporting V-type ATPase complex IBA --
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

Gene Ontology (GO) - Biological Process for ATP6V0A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification IBA --
GO:0015986 ATP synthesis coupled proton transport IBA --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0034220 ion transmembrane transport TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
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
Full agonist, Agonist 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

(4) Tocris Compounds for ATP6V0A2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 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:

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

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
rs7969410 - 123,751,228(+) GAACC(A/G)GGTAA intron-variant, nc-transcript-variant, reference, missense
rs17883456 - 123,756,959(+) TTCTG(C/T)GTTTC nc-transcript-variant, reference, missense
rs7133734 -- 123,712,188(+) GCTCT(C/G)CGTCC upstream-variant-2KB
rs7135542 -- 123,744,882(+) TACAG(C/T)GACAG nc-transcript-variant, reference, synonymous-codon
rs10846547 -- 123,728,823(+) TGGTC(A/G)TGGTC 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
wrinkly skin syndrome
  • weaver syndrome
cutis laxa, autosomal recessive, type iia
  • arcl2a
atp6v0a2-related cutis laxa
  • cutis laxa, autosomal recessive, type iia
autosomal recessive cutis laxa type 2, classic type
  • arcl2, debré type
cutis laxa
  • loose skin
- elite association - COSMIC cancer census association via MalaCards

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. 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 3 4 67
  2. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (PMID: 19171192) Guillard M. … Wevers R.A. (Biochim. Biophys. Acta 2009) 3 23
  3. 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) 3 23
  4. 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) 3 23
  5. Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role. (PMID: 2247090) Lee C. … Beaman K.D. (Mol. Immunol. 1990) 2 3

Products for ATP6V0A2 Gene

Sources for ATP6V0A2 Gene

Content