Human Gene GFM2 (ENST00000296805.8_7) from GENCODE V47lift37
  Description: GTP dependent ribosome recycling factor mitochondrial 2, transcript variant 5 (from RefSeq NR_104006.2)
Gencode Transcript: ENST00000296805.8_7
Gencode Gene: ENSG00000164347.18_12
Transcript (Including UTRs)
   Position: hg19 chr5:74,017,031-74,062,942 Size: 45,912 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg19 chr5:74,017,480-74,059,567 Size: 42,088 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:74,017,031-74,062,942)mRNA (may differ from genome)Protein (779 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RRF2M_HUMAN
DESCRIPTION: RecName: Full=Ribosome-releasing factor 2, mitochondrial; Short=RRF2mt; AltName: Full=Elongation factor G 2, mitochondrial; Short=EF-G2mt; Short=mEF-G 2; AltName: Full=Elongation factor G2; Short=hEFG2; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Mitochondrion (By similarity).
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GFM2
Diseases sorted by gene-association score: leigh syndrome (2), joubert syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.91 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 328.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.30204-0.364 Picture PostScript Text
3' UTR -87.20449-0.194 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009022 - Elongation_fac_G/III/V
IPR000795 - ProtSyn_GTP-bd
IPR020568 - Ribosomal_S5_D2-typ_fold
IPR014721 - Ribosomal_S5_D2-typ_fold_subgr
IPR005225 - Small_GTP-bd_dom
IPR000640 - Transl_elong_EFG/EF2_C
IPR005517 - Transl_elong_EFG/EF2_IV
IPR004161 - Transl_elong_EFTu/EF1A_2
IPR009000 - Transl_elong_init/rib_B-barrel

Pfam Domains:
PF00009 - Elongation factor Tu GTP binding domain
PF00679 - Elongation factor G C-terminus
PF03144 - Elongation factor Tu domain 2
PF03764 - Elongation factor G, domain IV
PF14492 - Elongation Factor G, domain III

SCOP Domains:
50447 - Translation proteins
52540 - P-loop containing nucleoside triphosphate hydrolases
54211 - Ribosomal protein S5 domain 2-like
54980 - EF-G C-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q969S9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0003746 translation elongation factor activity

Biological Process:
GO:0006412 translation
GO:0032543 mitochondrial translation
GO:0032790 ribosome disassembly
GO:0070126 mitochondrial translational termination
GO:0070125 mitochondrial translational elongation

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AF111808 - Homo sapiens MSTP027 (MST027) mRNA, complete cds.
AY453587 - Homo sapiens elongation factor G isoform mRNA, complete cds.
BC015712 - Homo sapiens G elongation factor, mitochondrial 2, mRNA (cDNA clone MGC:16816 IMAGE:3922036), complete cds.
BC030612 - Homo sapiens G elongation factor, mitochondrial 2, mRNA (cDNA clone MGC:32927 IMAGE:4811939), complete cds.
AF367997 - Homo sapiens elongation factor G2 (EFG2) mRNA, complete cds; nuclear gene for mitochondrial product.
AK315705 - Homo sapiens cDNA, FLJ96804.
JF432829 - Synthetic construct Homo sapiens clone IMAGE:100074148 G elongation factor, mitochondrial 2 (GFM2) gene, encodes complete protein.
KJ894992 - Synthetic construct Homo sapiens clone ccsbBroadEn_04386 GFM2 gene, encodes complete protein.
KJ906363 - Synthetic construct Homo sapiens clone ccsbBroadEn_16033 GFM2 gene, encodes complete protein.
AK025314 - Homo sapiens cDNA: FLJ21661 fis, clone COL08837.
CU688944 - Synthetic construct Homo sapiens gateway clone IMAGE:100020764 5' read GFM2 mRNA.
AK307839 - Homo sapiens cDNA, FLJ97787.
CU677399 - Synthetic construct Homo sapiens gateway clone IMAGE:100020078 5' read GFM2 mRNA.
AK308422 - Homo sapiens cDNA, FLJ98370.
JD359245 - Sequence 340269 from Patent EP1572962.
JD303903 - Sequence 284927 from Patent EP1572962.
JD096785 - Sequence 77809 from Patent EP1572962.
JD305631 - Sequence 286655 from Patent EP1572962.
JD374813 - Sequence 355837 from Patent EP1572962.
LF209873 - JP 2014500723-A/17376: Polycomb-Associated Non-Coding RNAs.
JD501751 - Sequence 482775 from Patent EP1572962.
CQ873796 - Sequence 215 from Patent WO2004076622.
DD413633 - Regulation of Mammalian Cells.
AK126251 - Homo sapiens cDNA FLJ44263 fis, clone TLIVE2003200.
MA445450 - JP 2018138019-A/17376: Polycomb-Associated Non-Coding RNAs.
LF209872 - JP 2014500723-A/17375: Polycomb-Associated Non-Coding RNAs.
LF213628 - JP 2014500723-A/21131: Polycomb-Associated Non-Coding RNAs.
JD461867 - Sequence 442891 from Patent EP1572962.
JD167548 - Sequence 148572 from Patent EP1572962.
JD431248 - Sequence 412272 from Patent EP1572962.
JD433354 - Sequence 414378 from Patent EP1572962.
LF332369 - JP 2014500723-A/139872: Polycomb-Associated Non-Coding RNAs.
JD282879 - Sequence 263903 from Patent EP1572962.
MA567946 - JP 2018138019-A/139872: Polycomb-Associated Non-Coding RNAs.
MA445449 - JP 2018138019-A/17375: Polycomb-Associated Non-Coding RNAs.
MA449205 - JP 2018138019-A/21131: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q969S9 (Reactome details) participates in the following event(s):

R-HSA-5419273 Hydrolysis of GTP and dissociation of 28S and 39S subunits
R-HSA-5419277 GFM2:GTP binds 55S ribosome:mRNA:tRNA:MRRF releasing mRNA and tRNA
R-HSA-5419276 Mitochondrial translation termination
R-HSA-5368287 Mitochondrial translation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A0AR28, EFG2 , ENST00000296805.1, ENST00000296805.2, ENST00000296805.3, ENST00000296805.4, ENST00000296805.5, ENST00000296805.6, ENST00000296805.7, GFM2 , MSTP027, NR_104006, Q8N6D8, Q8WYI0, Q969S9, Q9H6Z1, RRF2M_HUMAN, uc317lwz.1, uc317lwz.2
UCSC ID: ENST00000296805.8_7
RefSeq Accession: NM_032380.5
Protein: Q969S9 (aka RRF2M_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.