Human Gene ATP6V0A2 (ENST00000613625.4) Description and Page Index
  Description: ATPase H+ transporting V0 subunit a2 (from HGNC ATP6V0A2)
RefSeq Summary (NM_012463): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.270118.1, SRR1660805.19163.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000330342.8/ ENSP00000332247.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000613625.4
Gencode Gene: ENSG00000185344.14
Transcript (Including UTRs)
   Position: hg38 chr12:123,712,356-123,737,687 Size: 25,332 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr12:123,712,566-123,737,352 Size: 24,787 Coding Exon Count: 9 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:123,712,356-123,737,687)mRNA (may differ from genome)Protein (372 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP6V0A2
Diseases sorted by gene-association score: wrinkly skin syndrome* (1279), cutis laxa, autosomal recessive, type iia* (900), autosomal recessive cutis laxa type 2, classic type* (750), atp6v0a2-related cutis laxa* (100), cutis laxa (18), myelophthisic anemia (9), lichen nitidus (5), hyperostosis, endosteal (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 128.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -123.20210-0.587 Picture PostScript Text
3' UTR -62.30291-0.214 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002490 - ATPase_V0/A0_a

Pfam Domains:
PF01496 - V-type ATPase 116kDa subunit family

ModBase Predicted Comparative 3D Structure on Q8TBM3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0015991 ATP hydrolysis coupled proton transport

Cellular Component:
GO:0033179 proton-transporting V-type ATPase, V0 domain


-  Descriptions from all associated GenBank mRNAs
  BC068531 - Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2, mRNA (cDNA clone MGC:87365 IMAGE:30344468), complete cds.
LF384025 - JP 2014500723-A/191528: Polycomb-Associated Non-Coding RNAs.
MA619602 - JP 2018138019-A/191528: Polycomb-Associated Non-Coding RNAs.
BC022300 - Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2, mRNA (cDNA clone IMAGE:4738797), complete cds.
AK289391 - Homo sapiens cDNA FLJ75560 complete cds, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a isoform 2 (ATP6V0A2), mRNA.
AF112972 - Homo sapiens TJ6 mRNA, complete cds.
HQ258004 - Synthetic construct Homo sapiens clone IMAGE:100072313 ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2) gene, encodes complete protein.
KJ898503 - Synthetic construct Homo sapiens clone ccsbBroadEn_07897 ATP6V0A2 gene, encodes complete protein.
KR711426 - Synthetic construct Homo sapiens clone CCSBHm_00023523 ATP6V0A2 (ATP6V0A2) mRNA, encodes complete protein.
KR711427 - Synthetic construct Homo sapiens clone CCSBHm_00023525 ATP6V0A2 (ATP6V0A2) mRNA, encodes complete protein.
KR711428 - Synthetic construct Homo sapiens clone CCSBHm_00023527 ATP6V0A2 (ATP6V0A2) mRNA, encodes complete protein.
KR711429 - Synthetic construct Homo sapiens clone CCSBHm_00023530 ATP6V0A2 (ATP6V0A2) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa04142 - Lysosome
hsa04966 - Collecting duct acid secretion
hsa05110 - Vibrio cholerae infection
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

-  Other Names for This Gene
  Alternate Gene Symbols: BC022300, hCG_1786229, Q8TBM3, Q8TBM3_HUMAN, uc058uuw.1
UCSC ID: uc058uuw.1
RefSeq Accession: NM_012463
Protein: Q8TBM3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATP6V0A2:
cutis-laxa (ATP6V0A2-Related Cutis Laxa)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.