Format

Send to:

Choose Destination

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

Gene ID: 84340, updated on 27-Jun-2020

Summary

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
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

Genomic context

See GFM2 in Genome Data Viewer
Location:
5q13.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (74721206..74767371, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74017029..74063196, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr5.1766 Neighboring gene ectodermal-neural cortex 1 Neighboring gene hexosaminidase subunit beta Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene family with sequence similarity 169 member A Neighboring gene NSA2 ribosome biogenesis factor Neighboring gene actin related protein 2/3 complex subunit 1A pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001281302.2NP_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:104384
    EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
    PRK12739
    Location:98809
    PRK12739; elongation factor G; Reviewed
    cd01693
    Location:594714
    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:719795
    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:399480
    mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes
    cd16262
    Location:518593
    EFG_III; Domain III of Elongation Factor G (EFG)
  2. NM_032380.5NP_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
    Q969S9
    UniProtKB/TrEMBL
    A0A024RAK1
    Related
    ENSP00000296805.3, ENST00000296805.8
    Conserved Domains (1) summary
    cl27769
    Location:66777
    GTP_EFTU; Elongation factor Tu GTP binding domain
  3. NM_170681.2NP_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, BI828937, DC402212
    Consensus CDS
    CCDS47232.1
    UniProtKB/Swiss-Prot
    Q969S9
    Related
    ENSP00000405808.2, ENST00000427854.6
    Conserved Domains (3) summary
    cd01886
    Location:72352
    EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
    pfam00009
    Location:69351
    GTP_EFTU; Elongation factor Tu GTP binding domain
    cd04092
    Location:367448
    mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes
  4. NM_170691.3NP_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
    UniProtKB/Swiss-Prot
    Q969S9
    UniProtKB/TrEMBL
    A0A024RAJ7
    Related
    ENSP00000296804.3, ENST00000345239.6
    Conserved Domains (6) summary
    cd01886
    Location:72352
    EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
    PRK12739
    Location:66713
    PRK12739; elongation factor G; Reviewed
    cd01693
    Location:515635
    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:640716
    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:439514
    EFG_III; Domain III of Elongation Factor G (EFG)
    cl02787
    Location:361401
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    74721206..74767371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q969S9
    UniProtKB/TrEMBL
    A0A024RAK1
    Conserved Domains (1) summary
    cl27769
    Location:66777
    GTP_EFTU; Elongation factor Tu GTP binding domain
  2. XM_011543691.3XP_011541993.1  ribosome-releasing factor 2, mitochondrial isoform X2

    Conserved Domains (4) summary
    cd01886
    Location:72352
    EF-G; Elongation factor G (EF-G) family involved in both the elongation and ribosome recycling phases of protein synthesis
    pfam00009
    Location:69351
    GTP_EFTU; Elongation factor Tu GTP binding domain
    cd04092
    Location:367448
    mtEFG2_II_like; Domain II of mitochondrial elongation factor G2-like proteins found in eukaryotes
    cl20541
    Location:486529
    EFG_III-like; Domain III of Elongation factor G (EF-G) and related proteins

RNA

  1. XR_002956185.1 RNA Sequence

Support Center