RARS2 (arginyl-tRNA synthetase 2, mitochondrial)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
57038 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Arginyl-tRNA synthetase 2, mitochondrial |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RARS2 |
SynonymsGene synonyms aliases
|
ArgRS, DALRD2, PCH6, PRO1992, RARSL |
ChromosomeChromosome number
|
6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6q15 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocereb |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs34647222 |
C>T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
rs63749985 |
T>C,G |
Pathogenic |
Intron variant |
rs138360045 |
T>C,G |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, intron variant, synonymous variant, 5 prime UTR variant, coding sequence variant |
rs143389605 |
T>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, intron variant, missense variant, non coding transcript variant |
rs144896612 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
rs145189950 |
C>G,T |
Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant |
rs145499324 |
T>C,G |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, non coding transcript variant, missense variant |
rs147844153 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
rs199728745 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs199835443 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, non coding transcript variant, missense variant |
rs387907048 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs750433723 |
C>T |
Likely-pathogenic |
Intron variant, genic downstream transcript variant |
rs756502974 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
rs756696262 |
TT>-,TTT |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs757743894 |
TTT>- |
Pathogenic, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, inframe deletion, coding sequence variant, non coding transcript variant, intron variant |
rs759331139 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
rs759420180 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, intron variant |
rs759922477 |
C>G,T |
Pathogenic |
Splice donor variant, downstream transcript variant, genic downstream transcript variant |
rs764875815 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
rs765044856 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs765088174 |
T>C |
Likely-pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant |
rs769473411 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs772887102 |
A>C |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant |
rs773838753 |
GA>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs775295739 |
A>C,G |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
rs777942571 |
G>- |
Likely-pathogenic |
Non coding transcript variant, 5 prime UTR variant, frameshift variant, intron variant, coding sequence variant |
rs781417096 |
T>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
rs863224180 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs863224182 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs863224183 |
->A,AA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant |
rs863224186 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs886041639 |
C>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
rs1057522050 |
A>G,T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
rs1064795060 |
CTGGAAAACACGATCCCAGCTGAACT>- |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
rs1258569046 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs1554203400 |
G>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant |
rs1582264160 |
G>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
rs1582576986 |
A>G |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant |
rs1582712331 |
AC>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q5T160 |
Protein name |
Probable arginine--tRNA ligase, mitochondrial (EC 6.1.1.19) (Arginyl-tRNA synthetase) (ArgRS) |
Protein function |
Catalyzes the attachment of arginine to tRNA(Arg) in a two-step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg). |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00750 |
tRNA-synt_1d |
102 → 449 |
tRNA synthetases class I (R) |
Family |
PF05746 |
DALR_1 |
463 → 578 |
DALR anticodon binding domain |
Domain |
|
Sequence |
|
Sequence length |
578 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
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 |
|
Epilepsy |
Epilepsy |
rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 |
20635367 |
Pontoneocerebellar hypoplasia |
Pontocerebellar Hypoplasia Type 1, Pontocerebellar Hypoplasia Type 6, Congenital pontocerebellar hypoplasia |
rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426, rs398122918, rs587780333, rs374550999, rs587777391, rs587777392, rs587777393, rs587777394, rs587777395, rs587777465, rs587777466, rs587777616, rs606231285, rs587784476, rs886037738, rs886037739, rs730880294, rs886037740, rs730882145, rs746260871, rs796052019, rs371295780, rs772731615, rs797046052, rs797046051, rs756696262, rs797045567, rs797046057, rs797046054, rs797046055, rs863224183, rs199835443, rs863224182, rs863224186, rs757743894, rs772887102, rs774923951, rs875989844, rs879253779, rs879253780, rs776969714, rs886041639, rs886041316, rs1057518749, rs1057518750, rs1057518887, rs1057519294, rs1057519296, rs1553730885, rs1570621473, rs371848318, rs777030573, rs758153898, rs1064795060, rs777942571, rs1554203400, rs779282547, rs1553230375, rs765088174, rs759922477, rs1554093168, rs755246924, rs1477347690, rs774157225, rs1420939606, rs781417096, rs780563835, rs772263867, rs139632595, rs768997239, rs200594402, rs1160669103, rs759331139, rs1566713184, rs753591864, rs769473411, rs1566696845, rs201467485, rs1258569046, rs1598480419, rs1309003036, rs759420180, rs199728745, rs773838753, rs1582712331, rs772146380, rs1223645705, rs774056037, rs1570621555, rs778263701, rs1557531984, rs750266350, rs1570626350, rs1584071201, rs1582576986, rs1246937494, rs1650621772, rs760433806, rs1447478732, rs1472685858, rs1712612585, rs1256144022, rs774755297, rs752086581, rs1887100431, rs762979613, rs774877872, rs201386427, rs199862050 |
20952379, 27061686, 27604308, 22086604, 26083569, 20635367, 25356970, 24896178, 26795593, 20635367 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
Microcephaly |
Secondary microcephaly |
rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Brainstem atrophy |
Atrophy/Degeneration affecting the brainstem |
|
|
Cerebellar atrophy |
Cerebellar atrophy |
|
|
Cerebellar hypoplasia |
Cerebellar Hypoplasia |
|
|
Cerebral atrophy |
Cerebral atrophy |
|
|
Meibomian cyst |
Meibomian Cyst |
|
|
|
|
|