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Aliases for ATP6V1C2 Gene

Aliases for ATP6V1C2 Gene

  • ATPase H+ Transporting V1 Subunit C2 2 3 5
  • ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C2 2 3
  • Vacuolar Proton Pump 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-Type Proton ATPase Subunit C 2 3
  • V-ATPase Subunit C 2 4
  • 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. Diseases associated with ATP6V1C2 include Deafness, Autosomal Recessive 47. Among its related pathways are Innate Immune System and Rheumatoid arthritis. Gene Ontology (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

Additional gene information for ATP6V1C2 Gene

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

Genomics for ATP6V1C2 Gene

GeneHancer (GH) Regulatory Elements for ATP6V1C2 Gene

Promoters and enhancers for ATP6V1C2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I010721 Promoter 0.8 EPDnew 550.8 +0.6 637 0.1 SUZ12 GLIS1 ZBTB11 ZBTB26 ZXDB EZH2 ATP6V1C2 RNU7-138P
GH02I010809 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.4 +90.7 90733 3.8 HDGF PKNOX1 SMAD1 ARNT ZFP64 SIN3A DMAP1 IRF4 ZNF143 FOS PDIA6 NOL10 ATP6V1C2 LOC101929882 LOC105373428 RNU7-176P
GH02I010772 Enhancer 0.8 Ensembl ENCODE 10.1 +53.5 53534 3.5 ZNF263 ZNF687 CEBPB NFXL1 ZNF592 GATA3 POLR2A ZBTB33 ZNF444 PRDM1 LOC105373428 PDIA6 RNU7-176P ATP6V1C2
GH02I010745 Enhancer 1 Ensembl ENCODE 7.5 +24.8 24757 1.2 HDGF BMI1 BATF IRF4 ZNF207 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 GC02P010745 RNU7-138P ATP6V1C2 LOC105373428
GH02I010759 Enhancer 0.6 ENCODE 8.3 +36.5 36496 0.2 NCOA3 SOX13 FOXA2 NFIA NFIB SAP130 HLF MNT TCF12 SKI ATP6V1C2 GC02P010745 LOC105373428
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V1C2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6V1C2 gene promoter:

Genomic Locations for ATP6V1C2 Gene

Genomic Locations for ATP6V1C2 Gene
chr2:10,720,974-10,785,110
(GRCh38/hg38)
Size:
64,137 bases
Orientation:
Plus strand
chr2:10,861,775-10,925,236
(GRCh37/hg19)

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

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 :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1C2 Gene

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.

Phenotypes From GWAS Catalog for ATP6V1C2 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IBA --
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IBA --
GO:0046983 protein dimerization activity IDA 21356312
genes like me logo Genes that share ontologies with ATP6V1C2: view
genes like me logo Genes that share phenotypes with ATP6V1C2: view

Animal Model Products

CRISPR Products

miRNA for ATP6V1C2 Gene

miRTarBase miRNAs that target ATP6V1C2

Inhibitory RNA Products

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

Localization for ATP6V1C2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1C2 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP6V1C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain IBA --
GO:0005765 lysosomal membrane IDA,HDA 17897319
GO:0005829 cytosol TAS --
GO:0033180 proton-transporting V-type ATPase, V1 domain IEA --
GO:0070062 extracellular exosome HDA,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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport IEA --
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

(5) Drugs for ATP6V1C2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
ATP Investigational Nutra Agonist 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1C2 Gene - From: HMDB

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

(2) 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
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATP6V1C2 Gene



Protein tissue co-expression partners for ATP6V1C2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1C2 Gene:

ATP6V1C2

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.

Evidence on tissue expression from TISSUES for ATP6V1C2 Gene

  • Eye(4.1)
  • Lung(2.6)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ATP6V1C2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1C2 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1C2 33 34
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia ATP6V1C2 33 34
  • 90.71 (n)
cow
(Bos Taurus)
Mammalia ATP6V1C2 33 34
  • 88.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1C2 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V1C2 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1c2 33
  • 86.98 (n)
mouse
(Mus musculus)
Mammalia Atp6v1c2 33 16 34
  • 86.89 (n)
chicken
(Gallus gallus)
Aves ATP6V1C2 33 34
  • 72.98 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V1C2 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1c2 33
  • 71.4 (n)
zebrafish
(Danio rerio)
Actinopterygii ATP6V1C2 34
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Vha44 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vha-11 34
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA5 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3174 34
  • 52 (a)
OneToMany
Species where no ortholog for ATP6V1C2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs386352282 uncertain-significance, not provided 10,777,606(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000026625 -- 10,747,854(+) TTTTTCTTTTTCTTTTTCTTTTT/TTTTTCTTTTT/TTTTTCTTTTTCTTTTTCTTTTTCTTTTT genic_upstream_transcript_variant, intron_variant
rs1000039183 -- 10,722,255(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000073349 -- 10,734,069(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000265537 -- 10,719,814(+) A/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv210n21 CNV gain 19592680
esv2658166 CNV deletion 23128226
esv3589807 CNV loss 21293372
esv3589808 CNV gain 21293372
nsv1000731 CNV gain 25217958
nsv580968 CNV loss 21841781
nsv828365 CNV gain 20364138
nsv833381 CNV loss 17160897

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)

Additional Variant Information for ATP6V1C2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1C2

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

Disorders for ATP6V1C2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V1C2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 47
  • dfnb47
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1C2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP6V1C2: view

No data available for 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 AN … Karet FE (Gene 2002) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for ATP6V1C2 Gene

Sources for ATP6V1C2 Gene

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