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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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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
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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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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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