GFM2 (GTP dependent ribosome recycling factor mitochondrial 2)

Gene

• Entrez ID: 84340
• Gene name: GTP dependent ribosome recycling factor mitochondrial 2
• Gene symbol: GFM2
• Synonyms: EF-G2mt, EFG2, MRRF2, MST027, MSTP027, RRF, RRF2, RRF2mt, hEFG2, mEF-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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003746	Function	Translation elongation factor activity	IDA	19716793
GO:0003924	Function	GTPase activity	EXP	19716793
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	IDA	19716793
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0032543	Process	Mitochondrial translation	IBA	21873635
GO:0032543	Process	Mitochondrial translation	IDA	19716793
GO:0032790	Process	Ribosome disassembly	IBA	21873635
GO:0032790	Process	Ribosome disassembly	IDA	19716793
GO:0070125	Process	Mitochondrial translational elongation	IDA	19716793
GO:0070126	Process	Mitochondrial translational termination	TAS

Other IDs

• MIM: 606544
• HGNC: 29682
• e!Ensembl: 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

• Sequence:

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

• Sequence length: 779

Pathways

Reactome:

Mitochondrial translation termination

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627	26016410
Combined oxidative phosphorylation deficiency	Combined oxidative phosphorylation defect type 39	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Leigh syndrome	Leigh Disease, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, Leigh Syndrome Due To Mitochondrial Complex II Deficiency, Leigh Syndrome due to Mitochondrial Complex III Deficiency, Leigh Syndrome due to Mitochondrial Complex IV Deficiency, Leigh Syndrome due to Mitochondrial Complex V Deficiency	rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953	26016410, 19716793, 29075935, 22700954, 26016410, 19716793, 22700954, 29075935, 22700954, 26016410, 19716793, 29075935, 29075935, 26016410, 19716793, 22700954, 19716793, 22700954, 29075935, 26016410, 19716793, 26016410, 22700954, 29075935

Unknown
Disease name	Disease term	dbSNP ID	References
Dysarthria	Dysarthria
Mitochondrial diseases	Mitochondrial Diseases		29075935
Necrotizing encephalomyelopathy	Necrotizing encephalopathy, infantile subacute, of Leigh		19716793, 29075935, 22700954, 26016410