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Aliases for ATP6V1C2 Gene

Aliases for ATP6V1C2 Gene

  • ATPase H+ Transporting V1 Subunit C2 2 3
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C2 2 3 5
  • Vacuolar Proton Pump Subunit C 2 3 4
  • V-ATPase Subunit C 2 3 4
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C Isoform 2 2
  • ATPase, H+ Transporting, Lysosomal 42kD, V1 Subunit C Isoform 2 2
  • V-ATPase C2 Subunit 3
  • ATP6C2 3
  • Vma5 3

External Ids for ATP6V1C2 Gene

Previous GeneCards Identifiers for ATP6V1C2 Gene

  • GC00U991215
  • GC02P010914
  • GC02P010884
  • GC02P010812
  • GC02P010779
  • GC02P010861

Summaries for ATP6V1C2 Gene

Entrez Gene Summary for ATP6V1C2 Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V1C2 Gene

ATP6V1C2 (ATPase H+ Transporting V1 Subunit C2) is a Protein Coding gene. Among its related pathways are Insulin receptor recycling and Metabolism. GO annotations related to this gene include protein dimerization activity and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1C1.

UniProtKB/Swiss-Prot for ATP6V1C2 Gene

  • Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V1C2 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 ATP6V1C2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1C2 Gene

Genomics for ATP6V1C2 Gene

Regulatory Elements for ATP6V1C2 Gene

Enhancers for ATP6V1C2 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 ATP6V1C2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1C2 Gene

Chromosome:
2
Start:
10,720,974 bp from pter
End:
10,785,110 bp from pter
Size:
64,137 bases
Orientation:
Plus strand

Genomic View for ATP6V1C2 Gene

Genes around ATP6V1C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1C2 Gene

Proteins for ATP6V1C2 Gene

  • Protein details for ATP6V1C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEY4-VATC2_HUMAN
    Recommended name:
    V-type proton ATPase subunit C 2
    Protein Accession:
    Q8NEY4
    Secondary Accessions:
    • Q96EL8

    Protein attributes for ATP6V1C2 Gene

    Size:
    427 amino acids
    Molecular mass:
    48759 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c, c and d).
    SequenceCaution:
    • Sequence=AAY24069.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP6V1C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1C2 Gene

Proteomics data for ATP6V1C2 Gene at MOPED

Post-translational modifications for ATP6V1C2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1C2 Gene

No data available for DME Specific Peptides for ATP6V1C2 Gene

Domains & Families for ATP6V1C2 Gene

Gene Families for ATP6V1C2 Gene

HGNC:
IUPHAR :

Protein Domains for ATP6V1C2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1C2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NEY4

UniProtKB/Swiss-Prot:

VATC2_HUMAN :
  • Belongs to the V-ATPase C subunit family.
Family:
  • Belongs to the V-ATPase C subunit family.
genes like me logo Genes that share domains with ATP6V1C2: view

Function for ATP6V1C2 Gene

Molecular function for ATP6V1C2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
genes like me logo Genes that share phenotypes with ATP6V1C2: view

Animal Model Products

miRNA for ATP6V1C2 Gene

miRTarBase miRNAs that target ATP6V1C2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1C2 Gene

Localization for ATP6V1C2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1C2 Gene COMPARTMENTS Subcellular localization image for ATP6V1C2 gene
Compartment Confidence
cytosol 5
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ATP6V1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ATP6V1C2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1C2 Gene

Pathways & Interactions for ATP6V1C2 Gene

genes like me logo Genes that share pathways with ATP6V1C2: view

Gene Ontology (GO) - Biological Process for ATP6V1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0030177 positive regulation of Wnt signaling pathway IMP 20093472
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1C2: view

No data available for SIGNOR curated interactions for ATP6V1C2 Gene

Drugs & Compounds for ATP6V1C2 Gene

(3) Drugs for ATP6V1C2 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 ATP6V1C2 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 ATP6V1C2 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 ATP6V1C2: view

Transcripts for ATP6V1C2 Gene

Unigene Clusters for ATP6V1C2 Gene

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1C2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: -
SP3:

Relevant External Links for ATP6V1C2 Gene

GeneLoc Exon Structure for
ATP6V1C2
ECgene alternative splicing isoforms for
ATP6V1C2

Expression for ATP6V1C2 Gene

mRNA expression in normal human tissues for ATP6V1C2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1C2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x12.0), Skin - Not Sun Exposed (Suprapubic) (x11.9), Minor Salivary Gland (x6.2), and Kidney - Cortex (x5.6).

Protein differential expression in normal tissues from HIPED for ATP6V1C2 Gene

This gene is overexpressed in Cervix (34.6), Skin (8.2), Peripheral blood mononuclear cells (7.6), and Salivary gland (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V1C2 Gene



SOURCE GeneReport for Unigene cluster for ATP6V1C2 Gene Hs.580464

mRNA Expression by UniProt/SwissProt for ATP6V1C2 Gene

Q8NEY4-VATC2_HUMAN
Tissue specificity: Kidney and placenta.
genes like me logo Genes that share expression patterns with ATP6V1C2: view

Protein tissue co-expression partners for ATP6V1C2 Gene

Primer Products

In Situ Assay Products

Orthologs for ATP6V1C2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP6V1C2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V1C2 35
  • 88.84 (n)
  • 94.15 (a)
ATP6V1C2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1C2 35
  • 90.71 (n)
  • 95.08 (a)
ATP6V1C2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1c2 35
  • 86.89 (n)
  • 91.8 (a)
Atp6v1c2 16
Atp6v1c2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1C2 35
  • 99.84 (n)
  • 100 (a)
ATP6V1C2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1c2 35
  • 86.98 (n)
  • 92.71 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1C2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1C2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V1C2 35
  • 72.98 (n)
  • 77.37 (a)
ATP6V1C2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1C2 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1c2 35
  • 71.4 (n)
  • 72.37 (a)
zebrafish
(Danio rerio)
Actinopterygii ATP6V1C2 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Vha44 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-11 36
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA5 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3174 36
  • 52 (a)
OneToMany
Species with no ortholog for ATP6V1C2:
  • 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)
  • soybean (Glycine max)
  • 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 ATP6V1C2 Gene

ENSEMBL:
Gene Tree for ATP6V1C2 (if available)
TreeFam:
Gene Tree for ATP6V1C2 (if available)

Paralogs for ATP6V1C2 Gene

Paralogs for ATP6V1C2 Gene

(1) SIMAP similar genes for ATP6V1C2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ATP6V1C2: view

Variants for ATP6V1C2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1C2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_032041 -
rs1625382 -- 10,755,276(+) GGTGA(C/T)CCGCC intron-variant
rs1686448 -- 10,765,882(+) GGAGA(A/C)CTGGC intron-variant
rs1686455 -- 10,776,430(+) CTGGG(A/G)ACCCC intron-variant
rs1686482 -- 10,782,390(+) CAGAA(A/C)CAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1C2 Gene

Variant ID Type Subtype PubMed ID
nsv833381 CNV Loss 17160897
esv2658166 CNV Deletion 23128226
nsv828365 CNV Gain 20364138
dgv210n21 CNV Gain 19592680

Variation tolerance for ATP6V1C2 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.21; 90.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V1C2 Gene

HapMap Linkage Disequilibrium report
ATP6V1C2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1C2 Gene

Disorders for ATP6V1C2 Gene

Relevant External Links for ATP6V1C2

Genetic Association Database (GAD)
ATP6V1C2
Human Genome Epidemiology (HuGE) Navigator
ATP6V1C2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1C2

No disorders were found for ATP6V1C2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V1C2 Gene

Publications for ATP6V1C2 Gene

  1. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. (PMID: 12384298) Smith A.N. … Karet F.E. (Gene 2002) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. (PMID: 23247143) Yu B. … Boerwinkle E. (Circ Cardiovasc Genet 2013) 3

Products for ATP6V1C2 Gene

Sources for ATP6V1C2 Gene

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