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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP5G2 Gene

protein-coding   GIFtS: 58
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)
About This Section

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 Lipid-Binding Protein, Mitochondrial2
ATP Synthase Proteolipid P22 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
     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 urea cycle disorder, and neuronal ceroid lipofuscinosis, and among its related super-pathways are Electron Transport Chain and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP5G2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT5G2_HUMAN, Q06055 (See protein sequence)
Recommended Name: ATP synthase lipid-binding protein, 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
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q06055

  • ATP5G2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP5G2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001002031.1  NP_005167.2  

    ENSEMBL proteins: 
     ENSP00000473535   ENSP00000377878   ENSP00000448801   ENSP00000447317   ENSP00000340315  
     ENSP00000447643  

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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005753mitochondrial proton-transporting ATP synthase complex TAS8328972
    GO:0016021integral to 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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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:
     IPR020537 ATPase_F0-cplx_csu_DDCD_BS
     IPR002379 ATPase_proteolipid_c_like_dom
     IPR000454 ATPase_F0-cplx_csu

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 disease0.47
    Parkinson's disease0.61
    Alzheimer's disease0.46
    2Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ATP5G2
        Electron Transport Chain
    Oxidative phosphorylation


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5G2

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

    5/61 Interacting proteins for ATP5G2 (Q060553 ENSP000003778784) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Search CenterWatch for drugs/clinical trials and news about 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,
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    About This Section

    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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    Additional mRNA sequence: 

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

    24/31 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 

    24/708 AceView cDNA sequences (see all 708):

    BQ272379 BM710934 AI298170 BE378851 CB149908 AA583788 BP428948 F19140 
    AW848637 CA942595 BC013839 BM851161 AI150529 N39970 AI859439 BM782418 
    BQ130479 BU145615 CA389475 BQ315186 R89058 BE897372 BQ684485 N23463 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP5G2 expression in normal human tissues (normalized intensities)      ATP5G2 embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Neural Tube (Nervous System)
             Telencephalon

    See ATP5G2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5G2

    SOURCE GeneReport for Unigene cluster: Hs.524464
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5G2: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    (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)
    About This Section

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

    Orthologs for ATP5G2 gene from 7/14 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 ATP5G26
    ATP synthase, H+ transporting, mitochondrial Fo co...
    62(a)
    1 ↔ 1
    JH376268.1(49431-50544)
    lizard
    (Anolis carolinensis)
    Reptilia ATP5G26
    Uncharacterized protein
    77(a)
    1 ↔ 1
    2(72951592-72957074)
    zebrafish
    (Danio rerio)
    Actinopterygii atp5g11 ATP synthase, H+ transporting, mitochondrial Fo complex, more 67.63(n)
    73.91(a)
      406301  NM_213028.1  NP_998193.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG17466
    --
    64(a)
    1 → many
    3R(27041867-27045352)
    worm
    (Caenorhabditis elegans)
    Secernentea Y82E9BR.36
    ATP synthase lipid-binding protein, mitochondrial
    63(a)
    1 → many
    III(1419189-1419914)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OLI16
    F0-ATP synthase subunit c (ATPase-associated prote...
    57(a)
    1 → many
    Mito(46723-46953)


    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)
    About This Section
    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


    5/6 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/364 SNPs in ATP5G2 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 603193    OMIM disorders: --

    8 diseases for ATP5G2:    About MalaCards
    urea cycle disorder    neuronal ceroid lipofuscinosis    batten disease    huntington's disease
    parkinson's disease    neuronitis    alzheimer's disease    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)
    About This Section

    PubMed articles for ATP5G2 gene, integrated from 9 sources (see all 20):
    (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. (1993)
    2. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (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. (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. (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. (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. (1987)
    9. Identification of novel ATP13A2 interactors and their role in a-synuclein misfolding and toxicity. (PubMed id 22645275)1 Usenovic M....Krainc D. (2012)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 517 HGNC: 842 AceView: ATP5G2 Ensembl:ENSG00000135390 euGenes: HUgn517
    ECgene: ATP5G2 Kegg: 517 H-InvDB: ATP5G2

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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