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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
  • Ribosome-Releasing Factor 2, Mitochondrial 3
  • 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 Mitochondrial translation and Organelle biogenesis and maintenance. 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

Enhancers for GFM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F074764 0.2 ENCODE 7.5 +0.8 836 3.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YBX1 NSA2 RPS26P26 RNU6-658P HEXB GFM2 FAM169A
GH05F074761 0.6 Ensembl ENCODE 6.5 +4.6 4583 3.3 CTCF ZNF146 JUN SIN3A THRB RAD21 RFX5 HIC1 SMC3 FOS NSA2 RNU6-658P GFM2 GC05M074726
GH05F074864 0.2 ENCODE 4.9 -100.2 -100200 6.2 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ETS1 YY1 GLIS2 YY2 SP5 NSA2 RPS26P26 GFM2 FAM169A GC05M074884
GH05F073901 1.1 Ensembl ENCODE 4.9 +866.0 866029 1.4 CTCF ZNF654 FOS RAD21 RNU7-196P GFM2 GC05P073917
GH05F073830 0.6 ENCODE 4.5 +936.3 936312 1.0 HLF CEBPB LOC102725145 GFM2 RNU7-196P GC05P073917
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GFM2 on UCSC Golden Path with GeneCards custom track

Promoters for GFM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001282984 71 2201 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for GFM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for GFM2
  • Santa Cruz Biotechnology (SCBT) Antibodies for GFM2

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:0003924 GTPase activity IEA,IDA 19716793
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GFM2: view

Phenotypes for GFM2 Gene

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

Animal Model Products

miRNA for GFM2 Gene

miRTarBase miRNAs that target GFM2

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for GFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GFM2: view

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:0006412 translation IEA --
GO:0006414 translational elongation IEA --
GO:0032543 mitochondrial translation IEA,IDA 19716793
GO:0032790 ribosome disassembly IDA 19716793
GO:0070125 NOT mitochondrial translational elongation 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

(3) Drugs for GFM2 Gene - From: HMDB

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

(1) 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
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:

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for GFM2 Gene



Protein tissue co-expression partners for GFM2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GFM2 Gene:

GFM2

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

Primer 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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia GFM2 34 35
  • 90.35 (n)
cow
(Bos Taurus)
Mammalia GFM2 34 35
  • 90.08 (n)
rat
(Rattus norvegicus)
Mammalia Gfm2 34
  • 82.92 (n)
oppossum
(Monodelphis domestica)
Mammalia GFM2 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfm2 34 16 35
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GFM2 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFM2 34 35
  • 73.27 (n)
lizard
(Anolis carolinensis)
Reptilia GFM2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfm2 34
  • 70.6 (n)
zebrafish
(Danio rerio)
Actinopterygii gfm2 34 35
  • 66.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta EF-G2 34 35
  • 51.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta RRF2M_ANOGA 34
  • 49.7 (n)
worm
(Caenorhabditis elegans)
Secernentea Y119D3B.14 34 35
  • 47.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13992g 34
  • 49.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF2 34 35 37
  • 49.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR085W 34
  • 48.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC660.10 34
  • 50.91 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07021 34
  • 43.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for GFM2 was found in the sources mined by GeneCards:
  • 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:

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
rs751852874 Likely pathogenic 74,760,989(+) ATTCT(-/AGTAAAGAGAAAAA)GAAAC intron-variant
rs761283105 Likely pathogenic 74,747,731(+) AGATT(C/T)GAGGT nc-transcript-variant, reference, missense
rs138670775 Likely benign 74,739,998(+) ATTCA(C/T)AGTTA nc-transcript-variant, reference, missense
rs142986380 Likely benign 74,736,882(+) TCTCT(A/G)CTTCA nc-transcript-variant, reference, missense
rs143306569 Likely benign 74,722,407(+) ATCCA(A/G)TAACA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GFM2 Gene

Variant ID Type Subtype PubMed ID
nsv598653 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
GFM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PMID: 19716793) Tsuboi M. … Takeuchi N. (Mol. Cell 2009) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. (PMID: 26016410) Fukumura S. … Tsutsumi H. (J. Hum. Genet. 2015) 3 64

Products for GFM2 Gene

Sources for GFM2 Gene

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