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GFM2 Gene

protein-coding   GIFtS: 55
GCID: GC05M074018

G Elongation Factor, Mitochondrial 2

Microbiology & Infectious Diseases Congress
  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
G Elongation Factor, Mitochondrial 21 2     MST0272
EFG22 3 5     RRF22
EF-G2mt2 3     Mitochondrial Elongation Factor G22
RRF2mt2 3     Mitochondrial Ribosome Recycling Factor 22
hEFG22 3     Ribosome-Releasing Factor 2, Mitochondrial2
MEF-G 22 3     Elongation Factor G 2, Mitochondrial3
MRRF22     Elongation Factor G23

External Ids:    HGNC: 296821   Entrez Gene: 843402   Ensembl: ENSG000001643477   OMIM: 6065445   UniProtKB: Q969S93   

Export aliases for GFM2 gene to outside databases

Previous GC identifers: GC05M074052 GC05M069221


(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 GFM2 Gene:
Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria.
Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to
a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of
mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase
that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from
messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to
mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding
distinct isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for GFM2 Gene:
GFM2 (G elongation factor, mitochondrial 2) is a protein-coding gene. Diseases associated with GFM2 include pneumonia, and tuberculosis. GO annotations related to this gene include GTP binding and translation elongation factor activity.

UniProtKB/Swiss-Prot: RRF2M_HUMAN, Q969S9
Function: Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of
mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome
disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal
translocation step during translation elongation




(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_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GFM2 gene promoter:
         LHX3b/Lhx3b   Pbx1a   NF-AT   CREB   NF-AT4   NF-AT2   LHX3a/Lhx3a   Chx10   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGFM2 promoter sequence
   Search Chromatin IP Primers for GFM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GFM2


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

Entrez Gene cytogenetic band: 5q13   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13

GFM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFM2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M074018:  view genomic region     (about GC identifiers)

Start:
74,017,029 bp from pter      End:
74,063,196 bp from pter
Size:
46,168 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: RRF2M_HUMAN, Q969S9 (See protein sequence)
Recommended Name: Ribosome-releasing factor 2, mitochondrial precursor  
Size: 779 amino acids; 86601 Da
Secondary accessions: A0AR28 Q8N6D8 Q8WYI0 Q9H6Z1
Alternative splicing: 5 isoforms:  Q969S9-1   Q969S9-2   Q969S9-3   Q969S9-4   Q969S9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GFM2: NX_Q969S9

Explore proteomics data for GFM2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GFM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001268231.1  NP_115756.2  NP_733781.1  NP_733792.1  

    ENSEMBL proteins: 
     ENSP00000296805   ENSP00000296804   ENSP00000427004   ENSP00000405808   ENSP00000421717  
     ENSP00000424877  

    GFM2 Human Recombinant Protein Products:

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    Novus Biologicals GFM2 Proteins
    Novus Biologicals GFM2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GFM2

    GFM2 Antibody Products:

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    ThermoFisher Antibodies for GFM2
    LSBio Antibodies in human, mouse, rat for GFM2

    GFM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GFM2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GFM2
    Cloud-Clone Corp. CLIAs for GFM2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR000795 EF_GTP-bd_dom
     IPR005517 Transl_elong_EFG/EF2_IV
     IPR005225 Small_GTP-bd_dom
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR020568 Ribosomal_S5_D2-typ_fold

    Graphical View of Domain Structure for InterPro Entry Q969S9

    ProtoNet protein and cluster: Q969S9

    2 Blocks protein domains:
    IPB000640 Elongation factor G
    IPB005517 Elongation factor G


    UniProtKB/Swiss-Prot: RRF2M_HUMAN, Q969S9
    Similarity: Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily


    GFM2 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: RRF2M_HUMAN, Q969S9
    Function: Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of
    mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome
    disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal
    translocation step during translation elongation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746NOT translation elongation factor activity IDA19716793
    GO:0003924GTPase activity IDA19716793
    GO:0005525GTP binding IEA--
         
    GFM2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GFM2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GFM2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GFM2

    miRNA
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    miRTarBase miRNAs that target GFM2:
    hsa-let-7b-5p (MIRT032195), hsa-mir-375 (MIRT019732)

    Block miRNA regulation of human, mouse, rat GFM2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GFM2:
    hsa-miR-96* hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidGFM2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GFM2

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    GenScript: all cDNA clones in your preferred vector (see all 3): GFM2 (NM_170681)
    Sino Biological Human cDNA Clone for GFM2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFM2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFM2


    (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
    RRF2M_HUMAN, Q969S9: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    GFM2 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GFM2
    Interactions:

        Search GeneGlobe Interaction Network for GFM2

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

    Selected Interacting proteins for GFM2 (Q969S93 ENSP000002968054) via UniProtKB, MINT, STRING, and/or I2D (see all 182)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBX1P628773, ENSP000002162254I2D: score=2 STRING: ENSP00000216225
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    DNAJA1P316893I2D: score=1 
    SMAD2Q157963I2D: score=1 
    MRPL12ENSP000003338374STRING: ENSP00000333837
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process IDA19716793
    GO:0032543mitochondrial translation IDA19716793
    GO:0032790ribosome disassembly IDA19716793
    GO:0070125NOT mitochondrial translational elongation IDA19716793

    GFM2 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 GFM2 (RRF2M)

    4 HMDB Compounds for GFM2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    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 GFM2 gene (4 alternative transcripts): 
    NM_001281302.1  NM_032380.4  NM_170681.2  NM_170691.2  

    Unigene Cluster for GFM2:

    G elongation factor, mitochondrial 2
    Hs.277154  [show with all ESTs]
    Unigene Representative Sequence: NM_032380
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296805(uc003kdh.1 uc003kdi.1 uc010izj.1 uc010izk.1 uc010izl.1)
    ENST00000345239 ENST00000509430 ENST00000515125 ENST00000514734 ENST00000506263
    ENST00000427854(uc003kdj.1) ENST00000513331 ENST00000509097 ENST00000506778

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat GFM2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate GFM2:
    hsa-miR-96* hsa-miR-2116
    SwitchGear 3'UTR luciferase reporter plasmidGFM2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GFM2
    Predesigned siRNA for gene silencing in human, mouse, rat GFM2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): GFM2 (NM_170681)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GFM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GFM2
    Primer
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    OriGene qPCR primer pairs and template standards for GFM2
    OriGene qSTAR qPCR primer pairs in human, mouse for GFM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GFM2
      QuantiTect SYBR Green Assays in human, mouse, rat GFM2
      QuantiFast Probe-based Assays in human, mouse, rat GFM2

    Additional mRNA sequence: 

    AF111808.1 AF367997.1 AK025314.1 AK126251.1 AK307839.1 AK308422.1 AK315705.1 AY453587.1 
    BC015712.1 BC030612.1 

    Selected DOTS entries (see all 25):

    DT.92460306  DT.100059726  DT.100868799  DT.97862484  DT.120814589  DT.100776785  DT.100059733  DT.100798975 
    DT.92460289  DT.100848492  DT.95301878  DT.92460310  DT.100776780  DT.92460296  DT.97788223  DT.101976061 
    DT.120814536  DT.402852  DT.75129626  DT.91641767  DT.95173447  DT.95173454  DT.100664535  DT.121211263 

    Selected AceView cDNA sequences (see all 210):

    AI083526 BX098025 BU622328 BX436120 AA363953 AI110753 BX422090 CD105776 
    AL039297 AW068973 BM764430 AL043965 AF367997 NM_032380 AA872519 BX441855 
    CR592399 AI886226 H16942 NM_170691 AF074660 BU739250 AV709414 BM745868 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GFM2 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ·
    SP1:                                                  -                                   -                                                                     
    SP2:                                                                                      -                                                     -     -         
    SP3:                                                                                                                                            -     -         
    SP4:                                                                                                                                            -     -         
    SP5:                                                                                                                                            -     -         

    ExUns: 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23
    SP1:                                                            
    SP2:        -                                                   
    SP3:        -                                                   
    SP4:        -                                                   
    SP5:                                                            


    ECgene alternative splicing isoforms for GFM2

    (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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    GFM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTTCATCT
    GFM2 Expression
    About this image

    GFM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GFM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.277154

    UniProtKB/Swiss-Prot: RRF2M_HUMAN, Q969S9
    Tissue specificity: Widely expressed

        Custom PCR Arrays for GFM2
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    QuantiFast Probe-based Assays in human, mouse, rat GFM2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFM2

    (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 eukaryotes.

    Orthologs for GFM2 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfm21 , 5 G elongation factor, mitochondrial 21, 5 81.51(n)1
    83.61(a)1
      13 (50.66 cM)5
    3208061  NM_177266.51  NP_796240.31 
     971379375 
    chicken
    (Gallus gallus)
    Aves GFM21 G elongation factor, mitochondrial 2 73.27(n)
    72.93(a)
      427205  XM_004937358.1  XP_004937415.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFM26
    G elongation factor, mitochondrial 2
    72(a)
    1 ↔ 1
    2(15126931-15150910)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU911836.12   -- 77.98(n)    BU911836.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570470712   -- 69.21(n)    57047071 
    fruit fly
    (Drosophila melanogaster)
    Insecta EF-G21 Elongation Factor G2 51.15(n)
    43.08(a)
      42670  NM_170028.2  NP_732771.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y119D3B.141 Y119D3B.14 47.6(n)
    39.37(a)
      191043  NM_064944.4  NP_497345.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEF2(YJL102W)4
    MEF21
    Mitochondrial elongation factor involved in translational more4
    MEF21
    49.5(n)1
    41.74(a)1
      10(231301-233760)4
    8533421, 4  NP_012433.11, 4 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CB344954.22   -- 79.47(n)    CB344954.2 


    ENSEMBL Gene Tree for GFM2 (if available)
    TreeFam Gene Tree for GFM2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GFM2 gene
    2 SIMAP similar genes for GFM2 using alignment to 3 protein entries:     RRF2M_HUMAN (see all proteins):
    GFM1    EEF1A1

    GFM2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GFM2
    PGOHUM00000251316


    (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)
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    Selected SNPs for GFM2 (see all 934)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs361167751,2
    C--69243025(+) TTGGT-/AAAAAA 3 -- int10--------
    rs1859587441,2
    C--69243035(+) AAAAAA/C/GAAAAC 3 -- int10--------
    rs2019147701,2
    --69257104(+) ACCAC-/ATTTTCT 3 -- int10--------
    rs716004381,2
    C--74018077(+) AACGAAACTT/
            
    AACTT
    2 -- int11Minor allele frequency- -:0.50NA 2
    rs600777451,2
    C--74024174(+) ATCGT-/TAAGAG 2 -- int10--------
    rs673608411,2
    C--74028753(+) TTTAG-/ACAC  
            
    ACACA
    2 -- int11Minor allele frequency- ACAC:0.00NA 2
    rs3676558071,2
    C--74028753(+) TTTAG-/ACACAC
            
    ACACA
    2 -- int10--------
    rs595714821,2
    C--74029160(+) AAAAA-/A/AA  
            
    GACAA
    2 -- int10--------
    rs1456542361,2
    C--74049782(+) TGGGG-/GAAAAA 3 -- int10--------
    rs30312081,2
    C--74050131(+) CAATG-/A/AA  
            
    AAAAA
    3 -- int11CSA 2

    HapMap Linkage Disequilibrium report for GFM2 (74017029 - 74063196 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for GFM2: --
    Human Gene Mutation Database (HGMD): GFM2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GFM2
    DNA2.0 Custom Variant and Variant Library Synthesis for GFM2

    (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: 606544    OMIM disorders: --

    3 diseases for GFM2:    
    About MalaCards
    pneumonia    tuberculosis    malaria


    GFM2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GFM2
    Human Genome Epidemiology (HuGE) Navigator: GFM2 (1 document)

    Export disorders for GFM2 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 GFM2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with GFM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. (PubMed id 11735030)1, 2, 3, 9 Hammarsund M.... Sangfelt O. (Hum. Genet. 2001)
    2. 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)
    3. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PubMed id 19716793)1, 2 Tsuboi M.... Takeuchi N. (Mol. Cell 2009)
    4. 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)
    5. Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity. (PubMed id 22719265)1 Callegari S....de Barros Lopes M.A. (PLoS Genet. 2012)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. (PubMed id 18753147)1 Sasarman F....Shoubridge E.A. (Hum. Mol. Genet. 2008)

    (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: 84340 HGNC: 29682 AceView: GFM2 Ensembl:ENSG00000164347 euGenes: HUgn84340
    ECgene: GFM2 H-InvDB: GFM2

    (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)
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    NameDescription
    PharmGKB entry for GFM2 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 GFM2 gene:
    Search GeneIP for patents involving GFM2

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



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