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MTRFR (mitochondrial translation release factor in rescue)
Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91574
Gene nameGene Name - the full gene name approved by the HGNC.
Mitochondrial translation release factor in rescue
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTRFR
SynonymsGene synonyms aliases
C12orf65, COXPD7, SPG55, mtRF-R
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
SummarySummary of gene provided in NCBI Entrez Gene.
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitoc
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs140411575 C>T Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant
rs147328685 A>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397514539 C>T Pathogenic Stop gained, coding sequence variant
rs398122365 C>T Pathogenic Stop gained, coding sequence variant
rs398122972 G>- Pathogenic Stop gained, coding sequence variant
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003747 Function Translation release factor activity IEA
GO:0005739 Component Mitochondrion NAS 20186120
GO:0005762 Component Mitochondrial large ribosomal subunit IBA 21873635
GO:0006415 Process Translational termination IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H3J6
Protein name Mitochondrial translation release factor in rescue
Protein function Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation (PubMed:33243891). As heterodimer with MTRES1, ejects the unfinished nascent chain and peptidyl transfe
PDB 7A5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00472 RF-1
48 → 164
RF-1 domain
 Family
Sequence
Sequence length 166
Interactions View interactions
Associated diseases
Gene SNPs Gene ontology Other IDs Protein 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
Combined oxidative phosphorylation deficiency COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, Combined oxidative phosphorylation defect type 7 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 20598281, 24284555, 27858754, 24424123, 27604308
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
Unknown
Disease name Disease term dbSNP ID References
Congenital clubfoot Congenital clubfoot
Dysarthria Dysarthria
Hypoplasia of corpus callosum Hypoplasia of corpus callosum
Impaired cognition Impaired cognition

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