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 ... See more...

Aliases for GFM2 Gene

Aliases for GFM2 Gene

  • G Elongation Factor Mitochondrial 2 2 3 5
  • Ribosome-Releasing Factor 2, Mitochondrial 3 4
  • EF-G2mt 3 4
  • MEF-G 2 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
  • RRF 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 Combined Oxidative Phosphorylation Deficiency 39 and Mitochondrial Disorders. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is GFM1.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for GFM2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFM2 Gene

Genomics for GFM2 Gene

GeneHancer (GH) Regulatory Elements for GFM2 Gene

Promoters and enhancers for GFM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J074764 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 507.4 +0.7 686 4.2 ZBTB40 ZNF217 EP300 CTCF SIN3A MYC TCF12 POLR2G SP1 GTF2E2 NSA2 GFM2 POLK ENSG00000272040 RNU6-658P FAM169A
GH05J074863 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.9 -99.9 -99863 6.9 FOXK2 ZNF217 POLR2G NCOR1 PHF8 TEAD4 ZFX ZIC2 POLR2A CLOCK FAM169A ENSG00000271714 LOC441086 NSA2 ENSG00000242198 GFM2 RF00017-4723
GH05J074761 Enhancer 0.8 ENCODE dbSUPER 6.5 +4.6 4583 3.3 JUND FOS REST EP300 CTCF FOSL2 CEBPB JUN FOSL1 RFX5 lnc-FAM169A-3 NSA2 RNU6-658P GFM2
GH05J073900 Enhancer 0.9 Ensembl ENCODE 4.9 +865.4 865371 2.8 CTCF TCF12 FOS REST RAD21 SMC3 ZNF316 MAFF FOSL2 MAFK ENC1 HEXB RNU7-196P GFM2 RF00017-4720 HSALNG0042663 ARHGEF28
GH05J073830 Enhancer 0.3 ENCODE dbSUPER 4.5 +936.3 936312 1 ENSG00000249293 GFM2 RF00066-152 RNU7-196P RF00017-4720 ARHGEF28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFM2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFM2

Top Transcription factor binding sites by QIAGEN in the GFM2 gene promoter:
  • Chx10
  • CREB
  • Lhx3a
  • LHX3b
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pbx1a

Genomic Locations for GFM2 Gene

Genomic Locations for GFM2 Gene
chr5:74,721,204-74,767,371
(GRCh38/hg38)
Size:
46,168 bases
Orientation:
Minus strand
chr5:74,017,029-74,063,196
(GRCh37/hg19)
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
    Miscellaneous:
    • This protein may be expected to contain an N-terminal transit peptide but none has been predicted.

    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

No data available for DME Specific Peptides for GFM2 Gene

Domains & Families for GFM2 Gene

Gene Families for GFM2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GFM2 Gene

Suggested Antigen Peptide Sequences for GFM2 Gene

GenScript: Design optimal peptide antigens:
  • Elongation factor G2 (RRF2M_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q969S9

UniProtKB/Swiss-Prot:

RRF2M_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
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

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.

Phenotypes From GWAS Catalog for GFM2 Gene

Gene Ontology (GO) - Molecular Function for GFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 NOT translation elongation factor activity IBA,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
genes like me logo Genes that share phenotypes with GFM2: view

Human Phenotype Ontology for GFM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GFM2 Gene

miRTarBase miRNAs that target GFM2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFM2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFM2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 IDA,IEA 19716793
GO:0032790 ribosome disassembly IDA,IBA 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
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with GFM2: view

Transcripts for GFM2 Gene

mRNA/cDNA for GFM2 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFM2

Clone 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

Expression for GFM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GFM2 Gene



Protein tissue co-expression partners for GFM2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for GFM2 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
  • Liver(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with GFM2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GFM2 31 30
  • 90.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GFM2 31 30
  • 90.08 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfm2 30
  • 82.92 (n)
oppossum
(Monodelphis domestica)
Mammalia GFM2 31
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfm2 17 31 30
  • 81.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GFM2 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFM2 31 30
  • 73.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFM2 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfm2 30
  • 70.6 (n)
zebrafish
(Danio rerio)
Actinopterygii gfm2 31 30
  • 66.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EF-G2 31 30
  • 51.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta RRF2M_ANOGA 30
  • 49.7 (n)
worm
(Caenorhabditis elegans)
Secernentea Y119D3B.14 31 30
  • 47.6 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13992g 30
  • 49.55 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEF2 33 31 30
  • 49.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR085W 30
  • 48.05 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC660.10 30
  • 50.91 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07021 30
  • 43.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GFM2: view image

Paralogs for GFM2 Gene

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

  • RRF2M_HUMAN
  • D6RAL1_HUMAN
  • D6RF75_HUMAN
genes like me logo Genes that share paralogs with GFM2: view

Variants for GFM2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFM2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
667239 Uncertain Significance: not specified 74,763,728(-) CAA/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
668334 Likely Benign: not provided 74,746,169(-) T/C INTRON_VARIANT
671623 Benign: not provided 74,738,119(-) C/T INTRON_VARIANT
676215 Benign: not provided 74,758,770(-) A/G INTRON_VARIANT
680609 Likely Benign: not provided 74,750,398(-) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GFM2 Gene

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)

Additional Variant Information for GFM2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFM2 Gene

Disorders for GFM2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GFM2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 39
  • coxpd39
mitochondrial disorders
  • mitochondrial encephalomyopathies
mitochondrial metabolism disease
  • mitochondrial diseases
sandhoff disease
  • gm2-gangliosidosis, type ii
leigh syndrome
  • ls
- elite association - COSMIC cancer census association via MalaCards
Search GFM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RRF2M_HUMAN
  • Combined oxidative phosphorylation deficiency 39 (COXPD39) [MIM:618397]: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement. {ECO:0000269 PubMed:22700954, ECO:0000269 PubMed:26016410, ECO:0000269 PubMed:29075935}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GFM2

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

No data available for 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 (Human genetics 2001) 2 3 4 23 54
  2. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. (PMID: 19716793) Tsuboi M … Takeuchi N (Molecular cell 2009) 2 3 4 54
  3. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. (PMID: 26016410) Fukumura S … Tsutsumi H (Journal of human genetics 2015) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GFM2 Gene

Sources for GFM2 Gene