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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84340
Gene name	GTP dependent ribosome recycling factor mitochondrial 2
Gene symbol	GFM2
Synonyms (NCBI Gene)	EF-G2mtEFG2MRRF2MST027MSTP027RRFRRF2RRF2mthEFG2mEF-G 2
Chromosome	5
Chromosome location	5q13.3
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-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

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation deficiency 39	Likely pathogenic; Pathogenic	rs1240552971, rs869320703, rs869320704, rs1744128996, rs764127754, rs746538436, rs1554042187	RCV005603717 RCV000210856 RCV000210855 RCV003153048 RCV004547206 RCV000767876 RCV000767877
GFM2-related disorder	Likely pathogenic	rs1370043372	RCV003405780
Mitochondrial disease	Pathogenic	rs746538436, rs1554042187	RCV000515499 RCV000515475

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs16872254	RCV005911342
Cervical cancer	Benign; Likely benign	rs16872254, rs147231258	RCV005911343 RCV005916201
Cholangiocarcinoma	Benign	rs957680	RCV005890864
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs7732843	RCV005890859
Colon adenocarcinoma	Uncertain significance	rs780917501	RCV005928306
Gastric cancer	Likely benign	rs116606260	RCV005907531
Germ cell tumor of testis	Benign	rs7732843, rs957680	RCV005890858 RCV005890865
Hepatocellular carcinoma	Benign	rs7732843	RCV005890852
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Uncertain significance; Conflicting classifications of pathogenicity	rs141789665, rs863224037, rs761283105	RCV001824676 RCV001824675 RCV001824674
Malignant lymphoma, large B-cell, diffuse	Benign	rs7732843, rs957680	RCV005890856 RCV005890862
Nonpapillary renal cell carcinoma	Benign	rs7732843	RCV005890853
Ovarian cancer	Benign	rs7732843	RCV005890854
Ovarian serous cystadenocarcinoma	Likely benign	rs147231258, rs116606260	RCV005916203 RCV005907532
Sarcoma	Likely benign	rs147231258	RCV005916202
See cases	Uncertain significance	rs142840376	RCV002252662
Squamous cell carcinoma of the head and neck	Benign	rs957680	RCV005890860
Uterine carcinosarcoma	Benign	rs7732843, rs957680	RCV005890857 RCV005890863
Uterine corpus endometrial carcinoma	Likely benign	rs116606260	RCV005907533
Uveal melanoma	Benign	rs7732843, rs957680	RCV005890855 RCV005890861

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)