Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84340
Gene name Gene Name - the full gene name approved by the HGNC.	GTP dependent ribosome recycling factor mitochondrial 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GFM2
Synonyms (NCBI Gene) Gene synonyms aliases	EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF, RRF2, RRF2mt, hEFG2, mEF-G 2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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-o

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140077535	A>T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs746538436	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs751852874	AGTAAAGAGAAAAA>-	Likely-pathogenic	Intron variant
rs761283105	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs773010798	->A	Likely-pathogenic	Splice donor variant, intron variant
rs869320703	T>C	Pathogenic	Intron variant
rs869320704	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554042187	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all(74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019732	hsa-miR-375	Microarray	20215506
MIRT032195	hsa-let-7b-5p	Proteomics	18668040
MIRT1016729	hsa-miR-216b	CLIP-seq
MIRT1016730	hsa-miR-25	CLIP-seq
MIRT1016731	hsa-miR-32	CLIP-seq
MIRT1016732	hsa-miR-363	CLIP-seq
MIRT1016733	hsa-miR-367	CLIP-seq
MIRT1016734	hsa-miR-526b	CLIP-seq
MIRT1016735	hsa-miR-891b	CLIP-seq
MIRT1016736	hsa-miR-92a	CLIP-seq
MIRT1016737	hsa-miR-92b	CLIP-seq
MIRT2000941	hsa-miR-3168	CLIP-seq
MIRT1016729	hsa-miR-216b	CLIP-seq
MIRT1016730	hsa-miR-25	CLIP-seq
MIRT1016731	hsa-miR-32	CLIP-seq
MIRT1016732	hsa-miR-363	CLIP-seq
MIRT1016733	hsa-miR-367	CLIP-seq
MIRT1016734	hsa-miR-526b	CLIP-seq
MIRT1016735	hsa-miR-891b	CLIP-seq
MIRT1016736	hsa-miR-92a	CLIP-seq
MIRT1016737	hsa-miR-92b	CLIP-seq
MIRT2538441	hsa-miR-101	CLIP-seq
MIRT2538442	hsa-miR-2116	CLIP-seq
MIRT2538443	hsa-miR-3140-5p	CLIP-seq
MIRT2538444	hsa-miR-323b-3p	CLIP-seq
MIRT2538445	hsa-miR-3646	CLIP-seq
MIRT2538446	hsa-miR-3647-3p	CLIP-seq
MIRT2538447	hsa-miR-3662	CLIP-seq
MIRT2538448	hsa-miR-3907	CLIP-seq
MIRT2538449	hsa-miR-3942-5p	CLIP-seq
MIRT2538450	hsa-miR-4268	CLIP-seq
MIRT2538451	hsa-miR-4273	CLIP-seq
MIRT2538452	hsa-miR-4422	CLIP-seq
MIRT2538453	hsa-miR-4448	CLIP-seq
MIRT2538454	hsa-miR-4677-5p	CLIP-seq
MIRT2538455	hsa-miR-4680-3p	CLIP-seq
MIRT2538456	hsa-miR-4703-5p	CLIP-seq
MIRT2538457	hsa-miR-4724-5p	CLIP-seq
MIRT2538458	hsa-miR-4768-5p	CLIP-seq
MIRT2538459	hsa-miR-494	CLIP-seq
MIRT2538460	hsa-miR-548c-3p	CLIP-seq
MIRT2538461	hsa-miR-550b	CLIP-seq
MIRT2538462	hsa-miR-562	CLIP-seq
MIRT2538441	hsa-miR-101	CLIP-seq
MIRT2538442	hsa-miR-2116	CLIP-seq
MIRT2681508	hsa-miR-3119	CLIP-seq
MIRT2538443	hsa-miR-3140-5p	CLIP-seq
MIRT2681509	hsa-miR-3182	CLIP-seq
MIRT2538444	hsa-miR-323b-3p	CLIP-seq
MIRT2681510	hsa-miR-330-3p	CLIP-seq
MIRT2538445	hsa-miR-3646	CLIP-seq
MIRT2538446	hsa-miR-3647-3p	CLIP-seq
MIRT2538447	hsa-miR-3662	CLIP-seq
MIRT2681511	hsa-miR-376a	CLIP-seq
MIRT2681512	hsa-miR-376b	CLIP-seq
MIRT2538448	hsa-miR-3907	CLIP-seq
MIRT2538449	hsa-miR-3942-5p	CLIP-seq
MIRT2681513	hsa-miR-410	CLIP-seq
MIRT2681514	hsa-miR-4252	CLIP-seq
MIRT2538450	hsa-miR-4268	CLIP-seq
MIRT2538451	hsa-miR-4273	CLIP-seq
MIRT2538452	hsa-miR-4422	CLIP-seq
MIRT2538453	hsa-miR-4448	CLIP-seq
MIRT2681515	hsa-miR-4493	CLIP-seq
MIRT2681516	hsa-miR-4528	CLIP-seq
MIRT2538454	hsa-miR-4677-5p	CLIP-seq
MIRT2538455	hsa-miR-4680-3p	CLIP-seq
MIRT2538456	hsa-miR-4703-5p	CLIP-seq
MIRT2681517	hsa-miR-4720-3p	CLIP-seq
MIRT2538457	hsa-miR-4724-5p	CLIP-seq
MIRT2538459	hsa-miR-494	CLIP-seq
MIRT2538460	hsa-miR-548c-3p	CLIP-seq
MIRT2538461	hsa-miR-550b	CLIP-seq
MIRT2538462	hsa-miR-562	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003746	Function	Translation elongation factor activity	IDA	19716793
GO:0003924	Function	GTPase activity	EXP	19716793
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	19716793
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS	33878294
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0032543	Process	Mitochondrial translation	IBA
GO:0032543	Process	Mitochondrial translation	IDA	19716793
GO:0032543	Process	Mitochondrial translation	IEA
GO:0032790	Process	Ribosome disassembly	IBA
GO:0032790	Process	Ribosome disassembly	IDA	19716793, 33878294
GO:0032790	Process	Ribosome disassembly	IEA
GO:0070125	Process	Mitochondrial translational elongation	IDA	19716793
GO:0070126	Process	Mitochondrial translational termination	TAS

MIM	HGNC	e!Ensembl
606544	29682	ENSG00000164347

Protein

UniProt ID

Q969S9

Protein name

Ribosome-releasing factor 2, mitochondrial (RRF2mt) (EC 3.6.5.-) (Elongation factor G 2, mitochondrial) (EF-G2mt) (mEF-G 2) (Elongation factor G2) (hEFG2)

Protein function

Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis (PubMed:19716793, PubMed:33878294). Acts in collaboration with MRRF (PubMed:19716793, PubMed:33878294). P

PDB

7L20 , 7NSH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00009	GTP_EFTU	68 → 351	Elongation factor Tu GTP binding domain	Domain
PF03144	GTP_EFTU_D2	381 → 448	Elongation factor Tu domain 2	Domain
PF14492	EFG_III	485 → 559	Elongation Factor G, domain III	Domain
PF03764	EFG_IV	560 → 682	Elongation factor G, domain IV	Domain
PF00679	EFG_C	684 → 771	Elongation factor G C-terminus	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11735030}.

Sequence

MLTNLRIFAMSHQTIPSVYINNICCYKIRASLKRLKPHVPLGRNCSSLPGLIGNDIKSLH
SIINPPIAKIRNIGIMAHIDAGKTTTTERILYYSGYTRSLGDVDDGDTVTDFMAQERERG
ITIQSAAVTFDWKGYRVNLIDTPGHVDFTLEVERCLRVLDGAVAVFDASAGVEAQTLTVW
RQADKHNIPRICFLNKMDKTGASFKYAVESIREKLKAKPLLLQLPIGEAKTFKGVVDVVM
KEKLLWNCNSNDGKDFERKPLLEMNDPELLKETTEARNALIEQVADLDDEFADLVLEEFS
ENFDLLPAEKLQTAIHRVTLAQTAVPVLCGSALKNKGIQPLLDAVTMYLPSPEERNYEFL
QWYKDDLCALAFKVLHDKQRGPLVFMRIYSGTIKPQLAIHNINGNCTERISRLLLPFADQ
HVEIPSLTAGNIALTVGLKHTATGDTIVSSKSSALAAARRAEREGEKKHRQNNEAERLLL
AGVEIPEPVFFCTIEPPSLSKQPDLEHALKCLQREDPSLKVRLDPDSGQTVLCGMGELHI
EIIHDRIKREYGLETYLGPLQVAYRETILNSVRATDTLDRTLGDKRHLVTVEVEARPIET
SSVMPVIEFEYAESINEGLLKVSQEAIENGIHSACLQGPLLGSPIQDVAITLHSLTIHPG
TSTTMISACVSRCVQKALKKADKQVLEPLMNLEVTVARDYLSPVLADLAQRRGNIQEIQT
RQDNKVVIGFVPLAEIMGYSTVLRTLTSGSATFALELSTYQAMNPQDQNTLLNRRSGLT

Sequence length

779

Interactions

View interactions

	Reactome
			Mitochondrial translation termination

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
combined oxidative phosphorylation deficiency	Combined oxidative phosphorylation deficiency 39	rs869320703, rs869320704, rs746538436, rs1554042187	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs746538436, rs1554042187	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aphasia Broca	Associate	36818472
COVID 19	Associate	36818472
Developmental Disabilities	Associate	29075935
Diabetes Mellitus Type 1	Associate	22700954
Drug Related Side Effects and Adverse Reactions	Associate	22719265
Immunoproliferative Small Intestinal Disease	Associate	29075935
Leigh Disease	Associate	36675121
Microcephaly	Associate	22700954
Mitochondrial Diseases	Associate	29075935
Neoplasms	Associate	36314841

GFM2 (GTP dependent ribosome recycling factor mitochondrial 2)