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ATP5G2 Gene

protein-coding   GIFtS: 59
GCID: GC12M054030

ATP Synthase, H+ Transporting, Mitochondrial Fo Complex,...

(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex,...)
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(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
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C2
(Subunit 9)1 2
     ATP5A2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C2
(Subunit 9)1 2
     ATP Synthase C Subunit2
ATPase Subunit C2 3     ATP Synthase F(0) Complex Subunit C2, Mitochondrial2
ATP Synthase Proteolipid P22 3     ATP Synthase Lipid-Binding Protein, Mitochondrial2
ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C22 3     ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9)2
ATPase Protein 92 3     Mitochondrial ATP Synthase, Subunit C (Subunit 9)2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9), Isoform 21
     ATP Synthase Lipid-Binding Protein3

External Ids:    HGNC: 8421   Entrez Gene: 5172   Ensembl: ENSG000001353907   OMIM: 6031935   UniProtKB: Q060553   

Export aliases for ATP5G2 gene to outside databases

Previous GC identifers: GC12P054160 GC12M054171 GC12M053775 GC12M052345 GC12M054058 GC12M051097 GC12M054029


(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 ATP5G2 Gene:
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis,
utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP
synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the
membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP
synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry
of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel
likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c
of the proton channel and they specify precursors with different import sequences but identical mature proteins.
The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript
variants encoding different isoforms have been identified. This gene has multiple pseudogenes. (provided by
RefSeq, Jun 2010)

GeneCards Summary for ATP5G2 Gene:
ATP5G2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)) is a protein-coding gene. Diseases associated with ATP5G2 include spindle cell hemangioma, and urea cycle disorder. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and transporter activity. An important paralog of this gene is ATP5G3.

UniProtKB/Swiss-Prot: AT5G2_HUMAN, Q06055
Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
presence of a proton gradient across the membrane which is generated by electron transport complexes of the
respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a
peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric
c-ring of probably 10 subunits is part of the complex rotary element

Gene Wiki entry for ATP5G2 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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5G2 gene promoter:
         RFX1   c-Myb   IRF-1   TGIF   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5G2 promoter sequence
   Search Chromatin IP Primers for ATP5G2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5G2


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

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

ATP5G2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5G2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M054030:  view genomic region     (about GC identifiers)

Start:
54,026,510 bp from pter      End:
54,071,192 bp from pter
Size:
44,683 bases      Orientation:
minus 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: AT5G2_HUMAN, Q06055 (See protein sequence)
Recommended Name: ATP synthase F(0) complex subunit C2, mitochondrial precursor  
Size: 141 amino acids; 14637 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel.
CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b
and c
Miscellaneous: There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify
precursors with different import sequences but identical mature proteins. Is the major protein stored in the
storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease)
Secondary accessions: B3KQQ6
Alternative splicing: 3 isoforms:  Q06055-1   Q06055-2   Q06055-3   (Derived from EST data)

Explore the universe of human proteins at neXtProt for ATP5G2: NX_Q06055

Explore proteomics data for ATP5G2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ATP5G2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001002031.1  NP_005167.2  

    ENSEMBL proteins: 
     ENSP00000473535   ENSP00000377878   ENSP00000448801   ENSP00000447317   ENSP00000340315  
     ENSP00000447643  
    Reactome Protein details: Q06055

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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:
    FATP: Mitochondrial respiratory chain complex / Complex V
    F1ATP: ATPases / F-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: C
    F-type ATPase

    3 InterPro protein domains:
     IPR002379 ATPase_proteolipid_c_like_dom
     IPR000454 ATPase_F0-cplx_csu
     IPR020537 ATPase_F0-cplx_csu_DDCD_BS

    Graphical View of Domain Structure for InterPro Entry Q06055

    ProtoNet protein and cluster: Q06055

    1 Blocks protein domain: IPB000454 Eubacterial/plasma membrane H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: AT5G2_HUMAN, Q06055
    Similarity: Belongs to the ATPase C chain family


    ATP5G2 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: AT5G2_HUMAN, Q06055
    Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
    presence of a proton gradient across the membrane which is generated by electron transport complexes of the
    respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
    catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a
    peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
    mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric
    c-ring of probably 10 subunits is part of the complex rotary element

         Genatlas biochemistry entry for ATP5G2:
    ATP synthase,H+ transporting,inner mitochondrial membrane (F0 segment),subunit 2,complex V of oxidative
    phosphorylation (OXPHOS)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS8328972
    GO:0008289lipid binding IEA--
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    ATP5G2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP5G2:
     Elongated cells 

    Animal Models:
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    miRTarBase miRNAs that target ATP5G2:
    hsa-mir-125a-5p (MIRT045729), hsa-mir-185-5p (MIRT045349), hsa-mir-149-5p (MIRT045508), hsa-mir-629-5p (MIRT037781)

    Block miRNA regulation of human, mouse, rat ATP5G2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP5G2 (see all 10):
    hsa-miR-374c hsa-miR-144 hsa-miR-125a-5p hsa-miR-2355-5p hsa-miR-655 hsa-miR-125b hsa-miR-494 hsa-miR-101
    SwitchGear 3'UTR luciferase reporter plasmidATP5G2 3' UTR sequence
    Inhib. RNA
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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 UniProtKB/Swiss-Prot
    AT5G2_HUMAN, Q06055: Mitochondrion membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular3
    cytosol1
    endoplasmic reticulum1
    lysosome1
    nucleus1
    peroxisome1
    plasma membrane1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005753mitochondrial proton-transporting ATP synthase complex TAS8328972
    GO:0016021integral component of membrane IEA--
    GO:0033177proton-transporting two-sector ATPase complex, proton-transporting domain ----
    GO:0045263proton-transporting ATP synthase complex, coupling factor F(o) IEA--

    ATP5G2 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 ATP5G2 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    Oxidative phosphorylation0.64
    Huntington's disease0.45
    Parkinson's disease0.57
    2Alzheimer's disease
    Alzheimer's disease0.44
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ATP5G2
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for ATP5G2
        Formation of ATP by chemiosmotic coupling


    5 Kegg Pathways  (Kegg details for ATP5G2):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5G2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP5G2

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

    Selected Interacting proteins for ATP5G2 (Q060553 ENSP000003778784) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABHD16AO958703I2D: score=2 
    ENSG00000206403O958703I2D: score=2 
    ENSG00000224552O958703I2D: score=2 
    ENSG00000230475O958703I2D: score=2 
    ENSG00000231488O958703I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015986ATP synthesis coupled proton transport IEA--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0045471response to ethanol IEA--

    ATP5G2 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 

    Browse Tocris compounds for ATP5G2 (AT5G2)



    (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 ATP5G2 gene (2 alternative transcripts): 
    NM_001002031.2  NM_005176.5  

    Unigene Cluster for ATP5G2:

    ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)
    Hs.524464  [show with all ESTs]
    Unigene Representative Sequence: AK311357
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550241 ENST00000602871 ENST00000394349(uc001sec.3) ENST00000495596
    ENST00000552242(uc001sed.3 uc009znc.3) ENST00000549164 ENST00000338662
    ENST00000549748 ENST00000552120

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    Selected qRT-PCR Assays for microRNAs that regulate ATP5G2 (see all 10):
    hsa-miR-374c hsa-miR-144 hsa-miR-125a-5p hsa-miR-2355-5p hsa-miR-655 hsa-miR-125b hsa-miR-494 hsa-miR-101
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    Additional mRNA sequence: 

    AK130971.1 AK311357.1 BC013839.2 BC020826.2 D13119.1 M16439.1 

    Selected DOTS entries (see all 31):

    DT.97860075  DT.40133513  DT.100674892  DT.100674891  DT.121122520  DT.121122499  DT.95367478  DT.100674888 
    DT.91770230  DT.102843747  DT.100039685  DT.100811326  DT.121122273  DT.95367481  DT.101985372  DT.121122535 
    DT.95258286  DT.95367470  DT.95367486  DT.100744900  DT.100811325  DT.120969690  DT.121122260  DT.121122267 

    Selected AceView cDNA sequences (see all 708):

    BU176683 BM762615 AK130971 BM716335 AA126557 BE907630 BQ962867 AJ708561 
    BQ439416 BM787507 BU848998 BU181439 BQ315186 BQ919100 AA583788 AI828984 
    CD676107 BM782418 BU145615 AI859439 AW848637 AA081934 AJ713741 BQ956868 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP5G2 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:                    -     -           -                 -                           
    SP2:                          -           -                 -                           
    SP3:                                      -                                             
    SP4:              -     -     -           -                                             
    SP5:                                      -                                             


    ECgene alternative splicing isoforms for ATP5G2

    (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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    ATP5G2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGGAGCC
    ATP5G2 Expression
    About this image


    ATP5G2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ATP5G2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP5G2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524464
        Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5G2

    (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 ATP5G2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5g21 , 5 ATP synthase, H+ transporting, mitochondrial F0 complex, more1, 5 89.13(n)1
    91.49(a)1
      15 (57.77 cM)5
    679421  NM_026468.21  NP_080744.11 
     1026630145 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    64(a)
    many ↔ many
    JH376268.1(49431-50544)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    78(a)
    many ↔ many
    2(72951592-72957074)
    zebrafish
    (Danio rerio)
    Actinopterygii atp5g3b1 ATP synthase, H+ transporting, mitochondrial F0 complex, more 69.57(n)
    81.16(a)
      81541  NM_131761.1  NP_571836.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17461 CG1746 64.81(n)
    69.84(a)
      43693  NM_001260453.1  NP_001247382.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y82E9BR.36
    Protein Y82E9BR.3 (Y82E9BR.3) mRNA, complete cds
    65(a)
    1 → many
    III(1419196-1419914) WBGene00022336
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OLI16
    F0-ATP synthase subunit c (ATPase-associated prote...
    62(a)
    1 → many
    Mito(46723-46953) Q0130


    ENSEMBL Gene Tree for ATP5G2 (if available)
    TreeFam Gene Tree for ATP5G2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP5G2 gene
    ATP5G32  ATP5G12  
    3 SIMAP similar genes for ATP5G2 using alignment to 3 protein entries:     AT5G2_HUMAN (see all proteins):
    ATP5A    ATP5G3    ATP5G1

    ATP5G2 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ATP5G2 (see all 6)
    PGOHUM00000248160 PGOHUM00000244407 PGOHUM00000241054 PGOHUM00000238186 PGOHUM00000233554


    (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 ATP5G2 (see all 364)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1854574211,2
    --54058515(+) GAACCA/CTTAAC 2 -- ds50010--------
    rs1112598961,2
    C,F--54058589(+) GGAGGG/CAAGAG 2 -- ds50012Minor allele frequency- C:0.04CSA WA 120
    rs1461841751,2
    --54058612(+) AGGCCA/GGTTAA 2 -- ds50010--------
    rs585684881,2
    C,F--54058651(+) ACAATA/GAGGGC 2 -- ds50012Minor allele frequency- G:0.02WA EA 238
    rs740896851,2
    C,F--54058662(+) CTGAGC/GCAGGA 2 -- ds50013Minor allele frequency- G:0.09WA NA 240
    rs1135899311,2
    C,F--54058674(+) AGTGAC/TAGTGG 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1899200441,2
    --54058708(+) ATTTTA/CAGCCA 2 -- ds50010--------
    rs285379161,2
    C,F--54058851(+) CAAATC/ACATGT 2 -- ds50016Minor allele frequency- A:0.27WA CSA NA 246
    rs1498733471,2
    --54058882(+) CCCTTC/TGGGCC 2 -- ds50010--------
    rs1813042091,2
    --54058897(+) ACTCTC/TACGAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATP5G2 (54026510 - 54071192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP5G2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526791CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP5G2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP5G2

    (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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    OMIM gene information: 603193    OMIM disorders: --

    12 diseases for ATP5G2:    
    About MalaCards
    spindle cell hemangioma    urea cycle disorder    batten disease    neuronal ceroid lipofuscinosis
    hemangioma    huntington's disease    parkinson's disease    alzheimer's disease
    neuronitis    cerebritis    prostate cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for ATP5G2:
    Spindle cell hemangioma     Neuronal ceroid lipofuscinosis

    ATP5G2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP5G2
    Human Genome Epidemiology (HuGE) Navigator: ATP5G2 (2 documents)

    Export disorders for ATP5G2 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 ATP5G2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ATP5G2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. (PubMed id 8328972)1, 2, 3 Dyer M.R. and Walker J.E. (Biochem. J. 1993)
    2. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. (PubMed id 8485160)1, 2 Higuti T.... Tsujita H. (Biochim. Biophys. Acta 1993)
    8. Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex. (PubMed id 2883974)1, 2 Farrell L.B. and Nagley P. (Biochem. Biophys. Res. Commun. 1987)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Identification of novel ATP13A2 interactors and their role in I+-synuclein misfolding and toxicity. (PubMed id 22645275)1 Usenovic M....Krainc D. (Hum. Mol. Genet. 2012)

    (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: 517 HGNC: 842 AceView: ATP5G2 Ensembl:ENSG00000135390 euGenes: HUgn517
    ECgene: ATP5G2 Kegg: 517 H-InvDB: ATP5G2

    (According to HUGE)
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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 ATP5G2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ATP5G2 gene:
    Search GeneIP for patents involving ATP5G2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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