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Aliases for GFM2 Gene

Aliases for GFM2 Gene

  • G Elongation Factor, Mitochondrial 2 2 3 5
  • MEF-G 2 3 4
  • EF-G2mt 3 4
  • RRF2mt 3 4
  • HEFG2 3 4
  • EFG2 3 4
  • Mitochondrial Ribosome Recycling Factor 2 3
  • Elongation Factor G 2, Mitochondrial 4
  • Mitochondrial Elongation Factor G2 3
  • Elongation Factor G2 4
  • MSTP027 3
  • MST027 3
  • MRRF2 3
  • RRF2 3

External Ids for GFM2 Gene

Previous GeneCards Identifiers for GFM2 Gene

  • GC05M074052
  • GC05M069221
  • GC05M074018

Summaries for GFM2 Gene

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 leigh syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. GO annotations related to this gene include GTP binding and translation elongation factor activity.

UniProtKB/Swiss-Prot for GFM2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFM2 Gene

Genomics for GFM2 Gene

Regulatory Elements for GFM2 Gene

Promoters for GFM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GFM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GFM2 Gene

Chromosome:
5
Start:
74,721,204 bp from pter
End:
74,767,371 bp from pter
Size:
46,168 bases
Orientation:
Minus strand

Genomic View for GFM2 Gene

Genes around GFM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFM2 Gene

Proteins for GFM2 Gene

  • Protein details for GFM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969S9-RRF2M_HUMAN
    Recommended name:
    Ribosome-releasing factor 2, mitochondrial
    Protein Accession:
    Q969S9
    Secondary Accessions:
    • A0AR28
    • Q8N6D8
    • Q8WYI0
    • Q9H6Z1

    Protein attributes for GFM2 Gene

    Size:
    779 amino acids
    Molecular mass:
    86601 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GFM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFM2 Gene

Proteomics data for GFM2 Gene at MOPED

Post-translational modifications for GFM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GFM2 Gene

Domains & Families for GFM2 Gene

Suggested Antigen Peptide Sequences for GFM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969S9

UniProtKB/Swiss-Prot:

RRF2M_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
genes like me logo Genes that share domains with GFM2: view

No data available for Gene Families for GFM2 Gene

Function for GFM2 Gene

Molecular function for GFM2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for GFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 NOT translation elongation factor activity IDA 19716793
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GFM2: view

Phenotypes for GFM2 Gene

GenomeRNAi human phenotypes for GFM2:
genes like me logo Genes that share phenotypes with GFM2: view

Animal Model Products

miRNA for GFM2 Gene

miRTarBase miRNAs that target GFM2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GFM2 Gene

Localization for GFM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFM2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GFM2 Gene COMPARTMENTS Subcellular localization image for GFM2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for GFM2 Gene

Pathways & Interactions for GFM2 Gene

genes like me logo Genes that share pathways with GFM2: view

Pathways by source for GFM2 Gene

Gene Ontology (GO) - Biological Process for GFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032543 mitochondrial translation IDA,TAS 19716793
GO:0032790 ribosome disassembly IDA 19716793
genes like me logo Genes that share ontologies with GFM2: view

No data available for SIGNOR curated interactions for GFM2 Gene

Drugs & Compounds for GFM2 Gene

(2) Drugs for GFM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for GFM2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with GFM2: view

Transcripts for GFM2 Gene

Unigene Clusters for GFM2 Gene

G elongation factor, mitochondrial 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GFM2 Gene

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: - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:
SP11:

ExUns: 17c ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23
SP1:
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:

Relevant External Links for GFM2 Gene

GeneLoc Exon Structure for
GFM2
ECgene alternative splicing isoforms for
GFM2

Expression for GFM2 Gene

mRNA expression in normal human tissues for GFM2 Gene

Protein differential expression in normal tissues from HIPED for GFM2 Gene

This gene is overexpressed in Salivary gland (9.5) and Lymph node (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFM2 Gene



SOURCE GeneReport for Unigene cluster for GFM2 Gene Hs.277154

mRNA Expression by UniProt/SwissProt for GFM2 Gene

Q969S9-RRF2M_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with GFM2: view

Protein tissue co-expression partners for GFM2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GFM2 Gene

Orthologs for GFM2 Gene

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

Orthologs for GFM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFM2 36
  • 99 (a)
OneToOne
GFM2 35
  • 99.61 (n)
  • 99.49 (a)
cow
(Bos Taurus)
Mammalia GFM2 36
  • 89 (a)
OneToOne
GFM2 35
  • 90.08 (n)
  • 89.43 (a)
dog
(Canis familiaris)
Mammalia GFM2 35
  • 90.35 (n)
  • 89.96 (a)
GFM2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfm2 16
Gfm2 36
  • 84 (a)
OneToOne
Gfm2 35
  • 81.51 (n)
  • 83.61 (a)
oppossum
(Monodelphis domestica)
Mammalia GFM2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFM2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfm2 35
  • 82.92 (n)
  • 84.26 (a)
chicken
(Gallus gallus)
Aves GFM2 36
  • 72 (a)
OneToOne
GFM2 35
  • 73.27 (n)
  • 72.93 (a)
lizard
(Anolis carolinensis)
Reptilia GFM2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfm2 35
  • 70.6 (n)
  • 70.85 (a)
zebrafish
(Danio rerio)
Actinopterygii gfm2 35
  • 66.11 (n)
  • 69.99 (a)
gfm2 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta RRF2M_ANOGA 35
  • 49.7 (n)
  • 45.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta EF-G2 36
  • 42 (a)
OneToOne
EF-G2 35
  • 51.15 (n)
  • 43.08 (a)
worm
(Caenorhabditis elegans)
Secernentea Y119D3B.14 36
  • 38 (a)
OneToOne
Y119D3B.14 35
  • 47.6 (n)
  • 39.37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR085W 35
  • 48.05 (n)
  • 44.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF2 35
  • 49.5 (n)
  • 41.74 (a)
MEF2 36
  • 34 (a)
OneToOne
MEF2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13992g 35
  • 49.55 (n)
  • 39.91 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07021 35
  • 43.49 (n)
  • 35.33 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC660.10 35
  • 50.91 (n)
  • 42.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for GFM2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GFM2 Gene

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

Paralogs for GFM2 Gene

(2) SIMAP similar genes for GFM2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for GFM2 Gene

genes like me logo Genes that share paralogs with GFM2: view

No data available for Paralogs for GFM2 Gene

Variants for GFM2 Gene

Sequence variations from dbSNP and Humsavar for GFM2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs957680 - 74,759,384(-) CATCA(A/G)TCCTC nc-transcript-variant, reference, missense
rs1447452 -- 74,740,423(-) agaaa(C/T)atttt intron-variant
rs1374694 -- 74,735,097(-) AGCTG(A/G/T)TTGTA intron-variant
rs2314936 -- 74,754,384(+) gaatg(G/T)aaatg intron-variant
rs2314937 -- 74,754,490(+) actca(A/C)ataaa intron-variant

Variation tolerance for GFM2 Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.85; 98.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFM2 Gene

HapMap Linkage Disequilibrium report
GFM2
Human Gene Mutation Database (HGMD)
GFM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GFM2 Gene

Disorders for GFM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GFM2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GFM2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GFM2

Genetic Association Database (GAD)
GFM2
Human Genome Epidemiology (HuGE) Navigator
GFM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFM2
genes like me logo Genes that share disorders with GFM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GFM2 Gene

Publications for GFM2 Gene

  1. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. (PMID: 11735030) Hammarsund M. … Sangfelt O. (Hum. Genet. 2001) 2 3 4 23 67
  2. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. (PMID: 26016410) Fukumura S. … Tsutsumi H. (J. Hum. Genet. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for GFM2 Gene

Sources for GFM2 Gene

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