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    GFM2 GTP dependent ribosome recycling factor mitochondrial 2 [ Homo sapiens (human) ]

    Gene ID: 84340, updated on 13-Apr-2024

    Summary

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    Official Symbol
    GFM2provided by HGNC
    Official Full Name
    GTP dependent ribosome recycling factor mitochondrial 2provided by HGNC
    Primary source
    HGNC:HGNC:29682
    See related
    Ensembl:ENSG00000164347 MIM:606544; AllianceGenome:HGNC:29682
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRF; EFG2; RRF2; MRRF2; hEFG2; MST027; RRF2mt; EF-G2mt; MSTP027; mEF-G 2
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 9.4), testis (RPKM 9.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q13.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74721206..74767117, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75202108..75248032, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74017031..74062942, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73920707-73921208 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73921209-73921708 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:73926734-73927547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73936823-73937538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73937539-73938252 Neighboring gene Sharpr-MPRA regulatory region 10699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22671 Neighboring gene ectodermal-neural cortex 1 Neighboring gene hexosaminidase subunit beta Neighboring gene ReSE screen-validated silencer GRCh37_chr5:73973961-73974139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:73980770-73981270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74001994-74002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74002495-74002995 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22675 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene NSA2 ribosome biogenesis factor Neighboring gene family with sequence similarity 169 member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74090248-74090748 Neighboring gene ARPC1A pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita. Fukumura S, et al. J Hum Genet, 2015 Sep. PMID 26016410
    2. Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity. Callegari S, et al. PLoS Genet, 2012. PMID 22719265, Free PMC Article
    3. 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. Sasarman F, et al. Hum Mol Genet, 2008 Dec 1. PMID 18753147
    4. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Antonicka H, et al. Hum Mol Genet, 2006 Jun 1. PMID 16632485
    5. Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution. Hammarsund M, et al. Hum Genet, 2001 Nov. PMID 11735030

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GFM2 mutations could be causative of a phenotype of Leigh syndrome with arthrogryposis multiplex congenita.
      Title: Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
    2. These findings constitute the first reported phenotype associated with SNPs in the EF-G2mt gene and implicate the human EF-G2mt gene as a pharmacogenetic candidate gene for statin toxicity in humans
      Title: Polymorphisms in the mitochondrial ribosome recycling factor EF-G2mt/MEF2 compromise cell respiratory function and increase atorvastatin toxicity.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.
      Title: EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis.
    5. Myoblasts isolated from the MELAS patients show A3243G mutation in tRNALeu(UUR) produces a severe respiratory chain deficiency and this phenotype can be partially suppressed by overexpression of EFTu and EFG2.
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 39
    MedGen: C5193075 OMIM: 618397 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in mitochondrial translational elongation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial translational termination TAS
    Traceable Author Statement
    more info
    		  
    involved_in ribosome disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosome disassembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ribosome-releasing factor 2, mitochondrial
    Names
    G elongation factor mitochondrial 2
    mitochondrial elongation factor G2
    mitochondrial ribosome recycling factor 2
    mitochondrial ribosome-releasing factor 2
    ribosome releasing factor 2
    NP_001268231.1
    NP_115756.2
    NP_733781.1
    NP_733792.1
    XP_011541993.1
    XP_016865475.1
    XP_047273789.1
    XP_047273790.1
    XP_047273791.1
    XP_054209670.1
    XP_054209671.1
    XP_054209672.1
    XP_054209673.1
    XP_054209674.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011531.1 RefSeqGene

      Range
      5101..51012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281302.2 → NP_001268231.1  ribosome-releasing factor 2, mitochondrial isoform 4

      See identical proteins and their annotated locations for NP_001268231.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AF111808, AF367997, AY453587, BC015712, DC402212
      UniProtKB/Swiss-Prot
      Q969S9
      Conserved Domains (6) summary
      cd01886
      Location:104 → 384
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      PRK12739
      Location:98 → 809
      PRK12739; elongation factor G; Reviewed
      cd01693
      Location:594 → 714
      mtEFG2_like_IV; mtEF-G2 domain IV. This subfamily is a part the of mitochondrial transcriptional elongation factor, mtEF-G2. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory ...
      cd03713
      Location:719 → 795
      EFG_mtEFG_C; EFG_mtEFG_C: domains similar to the C-terminal domain of the bacterial translational elongation factor (EF) EF-G. Included in this group is the C-terminus of mitochondrial Elongation factor G1 (mtEFG1) and G2 (mtEFG2) proteins. Eukaryotic cells harbor 2 ...
      cd04092
      Location:399 → 480
      mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes
      cd16262
      Location:518 → 593
      EFG_III; Domain III of Elongation Factor G (EFG)

    2. NM_032380.5 → NP_115756.2  ribosome-releasing factor 2, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_115756.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 4. It encodes isoform 1 which is shorter at the N-terminus, compared to isoform 4.
      Source sequence(s)
      AF111808, AF367997, AK315705, AY453587
      Consensus CDS
      CCDS4023.1
      UniProtKB/Swiss-Prot
      A0AR28, Q8N6D8, Q8WYI0, Q969S9, Q9H6Z1
      Related
      ENSP00000296805.3, ENST00000296805.8
      Conserved Domains (1) summary
      cl27769
      Location:66 → 777
      GTP_EFTU; Elongation factor Tu GTP binding domain

    3. NM_170681.3 → NP_733781.1  ribosome-releasing factor 2, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_733781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, contains an alternate 3' terminal exon and initiates translation at a downstream start codon, compared to variant 4. It encodes isoform 3, which is shorter and has a distinct C-terminus, compared to isoform 4.
      Source sequence(s)
      AA418187, AF111808, AK025314
      Consensus CDS
      CCDS47232.1
      UniProtKB/Swiss-Prot
      Q969S9
      Related
      ENSP00000405808.2, ENST00000427854.6
      Conserved Domains (3) summary
      cd01886
      Location:72 → 352
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      pfam00009
      Location:69 → 351
      GTP_EFTU; Elongation factor Tu GTP binding domain
      cd04092
      Location:367 → 448
      mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes

    4. NM_170691.3 → NP_733792.1  ribosome-releasing factor 2, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_733792.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the 5' coding region and initiates translation at a downstream start codon, compared to variant 4. It encodes isoform 2, which is shorter than isoform 4.
      Source sequence(s)
      AF111808, AY453587
      Consensus CDS
      CCDS4024.1
      Related
      ENSP00000296804.3, ENST00000345239.6
      Conserved Domains (6) summary
      cd01886
      Location:72 → 352
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      PRK12739
      Location:66 → 713
      PRK12739; elongation factor G; Reviewed
      cd01693
      Location:515 → 635
      mtEFG2_like_IV; mtEF-G2 domain IV. This subfamily is a part the of mitochondrial transcriptional elongation factor, mtEF-G2. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory ...
      cd03713
      Location:640 → 716
      EFG_mtEFG_C; EFG_mtEFG_C: domains similar to the C-terminal domain of the bacterial translational elongation factor (EF) EF-G. Included in this group is the C-terminus of mitochondrial Elongation factor G1 (mtEFG1) and G2 (mtEFG2) proteins. Eukaryotic cells harbor 2 ...
      cd16262
      Location:439 → 514
      EFG_III; Domain III of Elongation Factor G (EFG)
      cl02787
      Location:361 → 401
      Translation_Factor_II_like; Domain II of Elongation factor Tu (EF-Tu)-like proteins

    RNA

    1. NR_104006.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF111808, AF367997, AK025314, AY453587, DC402212

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      74721206..74767117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417835.1 → XP_047273791.1  ribosome-releasing factor 2, mitochondrial isoform X2

    2. XM_017009986.2 → XP_016865475.1  ribosome-releasing factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A0AR28, Q8N6D8, Q8WYI0, Q969S9, Q9H6Z1
      Conserved Domains (1) summary
      cl27769
      Location:66 → 777
      GTP_EFTU; Elongation factor Tu GTP binding domain

    3. XM_047417834.1 → XP_047273790.1  ribosome-releasing factor 2, mitochondrial isoform X2

    4. XM_047417833.1 → XP_047273789.1  ribosome-releasing factor 2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      A0AR28, Q8N6D8, Q8WYI0, Q969S9, Q9H6Z1

    5. XM_011543691.4 → XP_011541993.1  ribosome-releasing factor 2, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A6M4C975
      Conserved Domains (4) summary
      cd01886
      Location:72 → 352
      EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
      pfam00009
      Location:69 → 351
      GTP_EFTU; Elongation factor Tu GTP binding domain
      cd04092
      Location:367 → 448
      mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes
      cl20541
      Location:486 → 529
      EFG_III-like; Domain III of Elongation factor G (EF-G) and related proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75202108..75248032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353698.1 → XP_054209673.1  ribosome-releasing factor 2, mitochondrial isoform X2

    2. XM_054353696.1 → XP_054209671.1  ribosome-releasing factor 2, mitochondrial isoform X1

    3. XM_054353697.1 → XP_054209672.1  ribosome-releasing factor 2, mitochondrial isoform X2

    4. XM_054353695.1 → XP_054209670.1  ribosome-releasing factor 2, mitochondrial isoform X1

    5. XM_054353699.1 → XP_054209674.1  ribosome-releasing factor 2, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969S9.1 GenPept UniProtKB/Swiss-Prot:Q969S9

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