SARS2 (seryl-tRNA synthetase 2, mitochondrial)

Gene

• Entrez ID: 54938
• Gene name: Seryl-tRNA synthetase 2, mitochondrial
• Gene symbol: SARS2
• Synonyms: SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mit

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201347156	G>A	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs863224195	C>T	Pathogenic	Splice donor variant
rs1114167285	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1600163739	T>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049346	hsa-miR-92a-3p	CLASH	23622248
MIRT043094	hsa-miR-324-5p	CLASH	23622248
MIRT041208	hsa-miR-193b-3p	CLASH	23622248
MIRT1326327	hsa-miR-1236	CLIP-seq
MIRT1326328	hsa-miR-1827	CLIP-seq
MIRT1326329	hsa-miR-1915	CLIP-seq
MIRT1326330	hsa-miR-1976	CLIP-seq
MIRT1326331	hsa-miR-24	CLIP-seq
MIRT1326332	hsa-miR-3140-5p	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326334	hsa-miR-3921	CLIP-seq
MIRT1326335	hsa-miR-3934	CLIP-seq
MIRT1326336	hsa-miR-4436a	CLIP-seq
MIRT1326337	hsa-miR-4437	CLIP-seq
MIRT1326338	hsa-miR-4522	CLIP-seq
MIRT1326339	hsa-miR-4539	CLIP-seq
MIRT1326340	hsa-miR-4649-3p	CLIP-seq
MIRT1326341	hsa-miR-4653-5p	CLIP-seq
MIRT1326342	hsa-miR-4669	CLIP-seq
MIRT1326343	hsa-miR-4680-5p	CLIP-seq
MIRT1326344	hsa-miR-4714-5p	CLIP-seq
MIRT1326345	hsa-miR-4726-3p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT1326347	hsa-miR-508-5p	CLIP-seq
MIRT1326348	hsa-miR-545	CLIP-seq
MIRT1326349	hsa-miR-665	CLIP-seq
MIRT1326350	hsa-miR-671-5p	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT2321185	hsa-miR-3160-3p	CLIP-seq
MIRT2321186	hsa-miR-3660	CLIP-seq
MIRT2321187	hsa-miR-4526	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq
MIRT1326328	hsa-miR-1827	CLIP-seq
MIRT1326333	hsa-miR-3150b-3p	CLIP-seq
MIRT1326334	hsa-miR-3921	CLIP-seq
MIRT1326338	hsa-miR-4522	CLIP-seq
MIRT1326340	hsa-miR-4649-3p	CLIP-seq
MIRT1326341	hsa-miR-4653-5p	CLIP-seq
MIRT2617366	hsa-miR-4685-5p	CLIP-seq
MIRT1326344	hsa-miR-4714-5p	CLIP-seq
MIRT1326346	hsa-miR-4784	CLIP-seq
MIRT2321188	hsa-miR-4800-5p	CLIP-seq
MIRT2321189	hsa-miR-711	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA	21873635
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004828	Function	Serine-tRNA ligase activity	IBA	21873635
GO:0004828	Function	Serine-tRNA ligase activity	ISS	10764807
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	ISS	10764807
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS	10764807
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006434	Process	Seryl-tRNA aminoacylation	IBA	21873635
GO:0006434	Process	Seryl-tRNA aminoacylation	ISS	10764807
GO:0070158	Process	Mitochondrial seryl-tRNA aminoacylation	IBA	21873635
GO:0097056	Process	Selenocysteinyl-tRNA(Sec) biosynthetic process	IEA

Other IDs

• MIM: 612804
• HGNC: 17697
• e!Ensembl: ENSG00000104835

Protein

• UniProt ID: Q9NP81
• Protein name: Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (SerRSmt) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)
• Protein function: Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). {ECO:0000250|UniProtKB:
• PDB: 7TZB, 7U2A, 7U2B, 7YDF, 7YDG, 8FFY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00587	tRNA-synt_2b	284 → 468	tRNA synthetase class II core domain (G, H, P, S and T)	Domain

• Sequence:

  MAASMARRLWPLLTRRGFRPRGGCISNDSPRRSFTTEKRNRNLLYEYAREGYSALPQLDI
  ERFCACPEEAAHALELRKGELRSADLPAIISTWQELRQLQEQIRSLEEEKAAVTEAVRAL
  LANQDSGEVQQDPKYQGLRARGREIRKELVHLYPREAQLEEQFYLQALKLPNQTHPDVPV
  GDESQARVLHMVGDKPVFSFQPRGHLEIGEKLDIIRQKRLSHVSGHRSYYLRGAGALLQH
  GLVNFTFNKLLRRGFTPMTVPDLLRGAVFEGCGMTPNANPSQIYNIDPARFKDLNLAGTA
  EVGLAGYFMDHTVAFRDLPVRMVCSSTCYRAETNTGQEPRGLYRVHHFTKVEMFGVTGPG
  LEQSSQLLEEFLSLQMEILTELGLHFRVLDMPTQELGLPAYRKFDIEAWMPGRGRFGEVT
  SASNCTDFQSRRLHIMFQTEAGELQFAHTVNATACAVPRLLIALLESNQQKDGSVLVPPA
  LQSYLGTDRITAPTHVPLQYIGPNQPRKPGLPGQPAVS

• Sequence length: 518

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Mitochondrial tRNA aminoacylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome, Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	rs727502784, rs1114167285	24034276, 21255763, 27604308
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954

Unknown
Disease name	Disease term	dbSNP ID	References
Hyperuricemia	Hyperuricemia
Hypochloremia	Hypochloremic metabolic alkalosis
Leukopenia	Leukopenia
Respiratory failure	Respiratory Failure