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ATP6V1C2 Gene

protein-coding   GIFtS: 64
GCID: GC02P010861

ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C2

(Previous names: ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C21 2     ATP6C22
Vacuolar Proton Pump Subunit C 22 3     VMA52
V-ATPase Subunit C 22 3     V-ATPase C2 Subunit2
ATPase, H+ Transporting, Lysosomal 42kD, V1 Subunit C Isoform 21     V-Type Proton ATPase Subunit C 22
ATPase, H+ Transporting, Lysosomal 42kDa, V1 Subunit C Isoform 21     

External Ids:    HGNC: 182641   Entrez Gene: 2459732   Ensembl: ENSG000001438827   UniProtKB: Q8NEY43   

Export aliases for ATP6V1C2 gene to outside databases

Previous GC identifers: GC00U991215 GC02P010914 GC02P010884 GC02P010812 GC02P010779 GC02P010713


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, lysosomal 42kDa, V1 subunit C2) is a protein-coding gene. Diseases associated with ATP6V1C2 include osteopetrosis, and renal tubular acidosis. GO annotations related to this gene include hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1C1.

UniProtKB/Swiss-Prot: VATC2_HUMAN, Q8NEY4
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

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, endosomes, the Golgi apparatus, chromaffin granules and coated
vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.
The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.
There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles
to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These
transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation
and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause
recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of
sperm motility and maturation.

Gene Wiki entry for ATP6V1C2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005334.17  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1C2 gene promoter:
         STAT1   AP-1   ATF-2   STAT1beta   LUN-1   Nkx5-1   STAT1alpha   E47   Hand1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1C2 promoter sequence
   Search Chromatin IP Primers for ATP6V1C2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1C2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p25.1

ATP6V1C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1C2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P010861:  view genomic region     (about GC identifiers)

Start:
10,861,775 bp from pter      End:
10,925,236 bp from pter
Size:
63,462 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VATC2_HUMAN, Q8NEY4 (See protein sequence)
Recommended Name: V-type proton ATPase subunit C 2  
Size: 427 amino acids; 48759 Da
Subunit: 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)
Sequence caution: Sequence=AAY24069.1; Type=Erroneous gene model prediction;
Secondary accessions: Q96EL8
Alternative splicing: 2 isoforms:  Q8NEY4-1   Q8NEY4-2   

Explore the universe of human proteins at neXtProt for ATP6V1C2: NX_Q8NEY4

Explore proteomics data for ATP6V1C2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP6V1C2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001034451.1  NP_653184.2  

    ENSEMBL proteins: 
     ENSP00000272238   ENSP00000371077  
    Reactome Protein details: Q8NEY4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: C2
    V-type ATPase

    1 InterPro protein domain:
     IPR004907 ATPase_V1-cplx_csu

    Graphical View of Domain Structure for InterPro Entry Q8NEY4

    ProtoNet protein and cluster: Q8NEY4

    1 Blocks protein domain: IPB004907 V-ATPase subunit C

    UniProtKB/Swiss-Prot: VATC2_HUMAN, Q8NEY4
    Similarity: Belongs to the V-ATPase C subunit family


    ATP6V1C2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATC2_HUMAN, Q8NEY4
    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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0015078hydrogen ion transmembrane transporter activity ----
         
    ATP6V1C2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V1C2:
     Increased G1 DNA content 

    Animal Models:
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    hsa-miR-485-5p hsa-miR-579 hsa-miR-200a hsa-miR-578 hsa-miR-513c hsa-miR-885-5p hsa-miR-3133 hsa-miR-570
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    golgi apparatus2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0033180proton-transporting V-type ATPase, V1 domain IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    ATP6V1C2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP6V1C2 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    Insulin receptor recycling0.74
    Collecting duct acid secretion0.66
    Transferrin endocytosis and recycling0.74
    Vibrio cholerae infection0.40
    Iron uptake and transport0.70
    Epithelial cell signaling in Helicobacter pylori infection0.32
    2Insulin receptor signalling cascade
    Signaling by Insulin receptor0.80
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4Signaling by GPCR
    Signal Transduction0.58
    5Synaptic vesicle cycle
    Synaptic vesicle cycle0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V1C2
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1C2) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1C2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V1C2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1C2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP6V1C2 (Q8NEY43 ENSP000002722384) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VMA21Q3ZAQ73, ENSP000003332554I2D: score=1 STRING: ENSP00000333255
    GOLGA2Q083793I2D: score=1 
    ATP6V0BENSP000002360674STRING: ENSP00000236067
    ATP6V0CENSP000003297574STRING: ENSP00000329757
    ATP6V0D1ENSP000002909494STRING: ENSP00000290949
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V1C2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ATP6V1C2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    4 HMDB Compounds for ATP6V1C2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP6V1C2 gene (2 alternative transcripts): 
    NM_001039362.1  NM_144583.3  

    Unigene Cluster for ATP6V1C2:

    ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
    Hs.580464  [show with all ESTs]
    Unigene Representative Sequence: AK125449
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272238 ENST00000381661(uc002ras.3 uc002rat.3) ENST00000480289

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    hsa-miR-485-5p hsa-miR-579 hsa-miR-200a hsa-miR-578 hsa-miR-513c hsa-miR-885-5p hsa-miR-3133 hsa-miR-570
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    Additional mRNA sequence: 

    AK125449.1 AK127836.1 AK292952.1 AY039759.1 BC012142.1 

    23 DOTS entries:

    DT.91769871  DT.100789657  DT.100886161  DT.100886178  DT.100886149  DT.100886170  DT.40289867  DT.100886160 
    DT.101985332  DT.91769870  DT.95188926  DT.100844843  DT.121030750  DT.95100594  DT.100692226  DT.100771343 
    DT.91769888  DT.97819922  DT.100737025  DT.100886179  DT.100886192  DT.40117534  DT.97786999 

    Selected AceView cDNA sequences (see all 52):

    AI186630 CB145320 AJ711872 AI221057 AW571561 AI948768 AA935347 AW300332 
    BX412136 CD671085 AA298968 W74220 AI769407 BE042383 AI628373 H63894 
    AI632870 BU684270 CA391385 BE179297 BU781836 D21018 AI476208 AW797417 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1C2    About this scheme

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


    ECgene alternative splicing isoforms for ATP6V1C2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP6V1C2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAATCTCT
    ATP6V1C2 Expression
    About this image


    ATP6V1C2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Hair (Integumentary System)
             Bulge Stem Cells Bulge
     
     Placenta (Extraembryonic Tissues)
    ATP6V1C2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1C2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.580464

    UniProtKB/Swiss-Prot: VATC2_HUMAN, Q8NEY4
    Tissue specificity: Kidney and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V1C2: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1C2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP6V1C2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1c21 , 5 ATPase, H+ transporting, lysosomal V1 subunit C21, 5 86.89(n)1
    91.8(a)1
      12 (8.06 cM)5
    687751  NM_133699.21  NP_598460.11 
     172847215 
    chicken
    (Gallus gallus)
    Aves ATP6V1C21 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit more 72.98(n)
    77.37(a)
      421939  XM_004935758.1  XP_004935815.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1C26
    ATPase, H+ transporting, lysosomal 42kDa, V1 subun...
    75(a)
    1 ↔ 1
    1(147363802-147393928)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp6v1c21 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit more 71.4(n)
    72.37(a)
      100485790  XM_002940121.2  XP_002940167.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ATP6V1C26
    ATPase, H+ transporting, lysosomal 42kDa, V1 subun...
    51(a)
    1 ↔ 1
    17(52181639-52205532) ENSDARG00000070440
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha446
    Vacuolar H[+] ATPase 44kD C subunit
    26(a)
    1 → many
    2R(12212318-12224142)
    worm
    (Caenorhabditis elegans)
    Secernentea vha-116
    Protein VHA-11, isoform a (vha-11) mRNA, complete ...
    49(a)
    1 → many
    IV(2307815-2314567) WBGene00006920
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA56
    Subunit C of the eight-subunit V1 peripheral membr...
    33(a)
    1 → many
    XI(285030-286208) YKL080W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V1C2 gene
    ATP6V1C12  
    1 SIMAP similar gene for ATP6V1C2 using alignment to 1 protein entry:     VATC2_HUMAN:
    ATP6V1C1

    ATP6V1C2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ATP6V1C2 (see all 1601)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1116383991,2
    C--10859841(+) AATGGC/TGTGAT 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1113616641,2
    C--10859857(+) CTCACC/TGCAAC 2 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1854712781,2
    --10859921(+) ATTAAA/GGCATG 2 -- us2k10--------
    rs1416754551,2
    C--10859936(+) ACCACA/GCCCAG 2 -- us2k10--------
    rs1902901451,2
    C--10859993(+) GGCTGA/GTCTCG 2 -- us2k10--------
    rs1123605711,2
    C--10860018(+) GGTGAC/ACTGCC 2 -- us2k14Minor allele frequency- A:0.17NA WA EA 360
    rs1817911421,2
    --10860126(+) TGCCAC/TGAGCC 2 -- us2k10--------
    rs756314491,2
    C,F--10860131(+) CGAGCC/AAGGTC 2 -- us2k13Minor allele frequency- A:0.17WA NA EA 358
    rs793582241,2
    C,F--10860133(+) AGCCAG/AGTCAC 2 -- us2k13Minor allele frequency- A:0.17WA NA EA 358
    rs760174791,2
    C--10860245(+) TCCTCA/GCCCTG 2 -- us2k14Minor allele frequency- G:0.17NA WA EA 360

    HapMap Linkage Disequilibrium report for ATP6V1C2 (10861775 - 10925236 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATP6V1C2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658166CNV Deletion23128226
    nsv833381CNV Loss17160897
    dgv210n21CNV Gain19592680
    nsv828365CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V1C2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1C2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    7 diseases for ATP6V1C2:    
    About MalaCards
    osteopetrosis    renal tubular acidosis    cholera    rheumatoid arthritis
    arthritis    tuberculosis    atherosclerosis

    1 disease from the University of Copenhagen DISEASES database for ATP6V1C2:
    Renal tubular acidosis

    ATP6V1C2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP6V1C2
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1C2 (1 document)

    Export disorders for ATP6V1C2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP6V1C2 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with ATP6V1C2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 12384298)1, 2, 3 Smith A.N.... Karet F.E. (Gene 2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. 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. (PubMed id 23247143)1 Yu B....Boerwinkle E. (Circ Cardiovasc Genet 2013)
    4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    5. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1 Schroeder B.... Hasilik A. (Traffic 2007)
    6. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Structural features and nucleotide-binding capability of the C subunit are integral to the regulation of the eukaryotic V1Vo ATPases. (PubMed id 16042619)1 GrA1ber G. (Biochem. Soc. Trans. 2005)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. (PubMed id 15203218)1 Fu G.K....Stuve L.L. (Genomics 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 245973 HGNC: 18264 AceView: ATP6V1C2.1 Ensembl:ENSG00000143882 euGenes: HUgn245973
    ECgene: ATP6V1C2 Kegg: 245973 H-InvDB: ATP6V1C2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP6V1C2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6V1C2 gene:
    Search GeneIP for patents involving ATP6V1C2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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