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

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; 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

Location:: 5q13.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (74721206..74767117, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (75202108..75248032, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (74017031..74062942, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1663E (e-PCR)
- UniSTS:151051

STS-R97079 (e-PCR)
- UniSTS:28173

SHGC-32009 (e-PCR)
- UniSTS:81454

WI-16064 (e-PCR)
- UniSTS:40005

SHGC-111990 (e-PCR)
- UniSTS:168854

SHGC-79002 (e-PCR)
- UniSTS:184220

RH103880 (e-PCR)
- UniSTS:98205

D5S1611E (e-PCR)
- UniSTS:151031

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
located_in mitochondrion	HTP more info	PubMed

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

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

NG_011531.1 RefSeqGene

Range

5101..51012

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

74721206..74767117 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417835.1 → XP_047273791.1 ribosome-releasing factor 2, mitochondrial isoform X2
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
XM_047417834.1 → XP_047273790.1 ribosome-releasing factor 2, mitochondrial isoform X2
XM_047417833.1 → XP_047273789.1 ribosome-releasing factor 2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

A0AR28, Q8N6D8, Q8WYI0, Q969S9, Q9H6Z1
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

NC_060929.1 Alternate T2T-CHM13v2.0

Range

75202108..75248032 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353698.1 → XP_054209673.1 ribosome-releasing factor 2, mitochondrial isoform X2
XM_054353696.1 → XP_054209671.1 ribosome-releasing factor 2, mitochondrial isoform X1
XM_054353697.1 → XP_054209672.1 ribosome-releasing factor 2, mitochondrial isoform X2
XM_054353695.1 → XP_054209670.1 ribosome-releasing factor 2, mitochondrial isoform X1
XM_054353699.1 → XP_054209674.1 ribosome-releasing factor 2, mitochondrial isoform X3

UniProtKB/TrEMBL

A0A6M4C975