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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51067
Gene name Gene Name - the full gene name approved by the HGNC.	Tyrosyl-tRNA synthetase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	YARS2
Synonyms (NCBI Gene) Gene synonyms aliases	CGI-04, MLASA2, MT-TYRRS, TYRRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MLASA2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11539445	C>A,T	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs267607180	G>A,C	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372098364	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs541554381	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs555093151	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs565781501	->T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice acceptor variant
rs587777213	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777214	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs587777215	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs745595833	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs762813092	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs768344665	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs775256289	->TGATCAGACATGACCTCC	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant
rs797045077	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863224270	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224271	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224272	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs863224273	AAT>TC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307738	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1365700579	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555137047	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all(163)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031764	hsa-miR-16-5p	Proteomics	18668040
MIRT051361	hsa-let-7f-5p	CLASH	23622248
MIRT045500	hsa-miR-149-5p	CLASH	23622248
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT675165	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675164	hsa-miR-3680-5p	HITS-CLIP	23824327
MIRT675163	hsa-miR-4999-3p	HITS-CLIP	23824327
MIRT675162	hsa-miR-4524a-3p	HITS-CLIP	23824327
MIRT675161	hsa-miR-6794-3p	HITS-CLIP	23824327
MIRT675160	hsa-miR-3672	HITS-CLIP	23824327
MIRT675159	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675158	hsa-miR-8055	HITS-CLIP	23824327
MIRT675157	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT1498264	hsa-miR-3934	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT1498267	hsa-miR-4477a	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT1557318	hsa-miR-342-3p	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT1557320	hsa-miR-4670-3p	CLIP-seq
MIRT1557321	hsa-miR-4798-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1557319	hsa-miR-3680	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT2150089	hsa-miR-554	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT2150083	hsa-miR-1224-3p	CLIP-seq
MIRT2370290	hsa-miR-1249	CLIP-seq
MIRT2370291	hsa-miR-146b-3p	CLIP-seq
MIRT2370292	hsa-miR-149	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498255	hsa-miR-302a	CLIP-seq
MIRT1498256	hsa-miR-302b	CLIP-seq
MIRT1498257	hsa-miR-302c	CLIP-seq
MIRT1498258	hsa-miR-302d	CLIP-seq
MIRT1498259	hsa-miR-302e	CLIP-seq
MIRT2370293	hsa-miR-3064-5p	CLIP-seq
MIRT2370294	hsa-miR-3126-3p	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT2370295	hsa-miR-3176	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT2370296	hsa-miR-371-5p	CLIP-seq
MIRT2370297	hsa-miR-371b-5p	CLIP-seq
MIRT1498262	hsa-miR-372	CLIP-seq
MIRT1498263	hsa-miR-373	CLIP-seq
MIRT2370298	hsa-miR-3922-3p	CLIP-seq
MIRT2370299	hsa-miR-4326	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498270	hsa-miR-4731-5p	CLIP-seq
MIRT2370300	hsa-miR-4735-5p	CLIP-seq
MIRT1498271	hsa-miR-4757-5p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT2370301	hsa-miR-4775	CLIP-seq
MIRT2370302	hsa-miR-4794	CLIP-seq
MIRT1498273	hsa-miR-5095	CLIP-seq
MIRT1498274	hsa-miR-512-3p	CLIP-seq
MIRT1498275	hsa-miR-520a-3p	CLIP-seq
MIRT1498276	hsa-miR-520b	CLIP-seq
MIRT1498277	hsa-miR-520c-3p	CLIP-seq
MIRT1498278	hsa-miR-520d-3p	CLIP-seq
MIRT1498279	hsa-miR-520e	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498281	hsa-miR-552	CLIP-seq
MIRT2370303	hsa-miR-590-3p	CLIP-seq
MIRT1498282	hsa-miR-626	CLIP-seq
MIRT2397118	hsa-miR-153	CLIP-seq
MIRT2150084	hsa-miR-3920	CLIP-seq
MIRT2397119	hsa-miR-448	CLIP-seq
MIRT2150085	hsa-miR-4652-3p	CLIP-seq
MIRT2150087	hsa-miR-4762-3p	CLIP-seq
MIRT2150088	hsa-miR-4778-5p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq
MIRT1498247	hsa-miR-122	CLIP-seq
MIRT1498248	hsa-miR-1297	CLIP-seq
MIRT1498249	hsa-miR-1343	CLIP-seq
MIRT1498250	hsa-miR-150	CLIP-seq
MIRT1498251	hsa-miR-1915	CLIP-seq
MIRT1498252	hsa-miR-1976	CLIP-seq
MIRT1498253	hsa-miR-26a	CLIP-seq
MIRT1498254	hsa-miR-26b	CLIP-seq
MIRT1498260	hsa-miR-3135b	CLIP-seq
MIRT1498261	hsa-miR-3652	CLIP-seq
MIRT1498265	hsa-miR-4430	CLIP-seq
MIRT1498266	hsa-miR-4465	CLIP-seq
MIRT2150086	hsa-miR-4695-3p	CLIP-seq
MIRT1498268	hsa-miR-4713-5p	CLIP-seq
MIRT1498269	hsa-miR-4726-3p	CLIP-seq
MIRT1498272	hsa-miR-4772-3p	CLIP-seq
MIRT1498280	hsa-miR-532-3p	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	20598274
GO:0000049	Function	TRNA binding	TAS	15779907
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004831	Function	Tyrosine-tRNA ligase activity	IBA	21873635
GO:0004831	Function	Tyrosine-tRNA ligase activity	IDA	15779907, 15840810, 17997975, 20598274
GO:0004831	Function	Tyrosine-tRNA ligase activity	NAS	10810093
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	TAS	15779907
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IC	20598274
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	NAS	10810093
GO:0005739	Component	Mitochondrion	TAS	15779907
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006412	Process	Translation	NAS	10810093
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0016604	Component	Nuclear body	IDA
GO:0042803	Function	Protein homodimerization activity	IPI	15779907, 17997975
GO:0043039	Process	TRNA aminoacylation	IBA	21873635
GO:0043039	Process	TRNA aminoacylation	IDA	15779907, 15840810, 17997975
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IC	15779907
GO:0070184	Process	Mitochondrial tyrosyl-tRNA aminoacylation	IMP	20598274
GO:0072545	Function	Tyrosine binding	IDA	17997975

MIM	HGNC	e!Ensembl
610957	24249	ENSG00000139131

Protein

UniProt ID

Q9Y2Z4

Protein name

Tyrosine--tRNA ligase, mitochondrial (EC 6.1.1.1) (Tyrosyl-tRNA synthetase) (TyrRS)

Protein function

Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr).

PDB

2PID , 3ZXI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00579	tRNA-synt_1b	71 → 375	tRNA synthetases class I (W and Y)	Family

Sequence

MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKARGLFKDFFPETGTKIE
LPELFDRGTASFPQTIYCGFDPTADSLHVGHLLALLGLFHLQRAGHNVIALVGGATARLG
DPSGRTKEREALETERVRANARALRLGLEALAANHQQLFTDGRSWGSFTVLDNSAWYQKQ
HLVDFLAAVGGHFRMGTLLSRQSVQLRLKSPEGMSLAEFFYQVLQAYDFYYLFQRYGCRV
QLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGAKLGKSAGNAVWLNRDKTSPF
ELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQLHVKEPERRGPQKRLAAEVTKLVHGR
EGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFSEFFLDPGTSVLDTCRKANAIP
DGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNGLSLLKIGKRNFYIIKWLQL

Sequence length

477

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Encephalopathy	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740 View all (107 more)	17460227, 26604000, 27145208
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Myopathy, lactic acidosis, and sideroblastic anemia	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2	rs267607180, rs104894371, rs104894372, rs587777213, rs11539445, rs587777214, rs587777215, rs372098364, rs797045077, rs745595833, rs869025309, rs779651314, rs1555268564, rs1566148136, rs762813092, rs779193823 View all (1 more)	30026338, 23918765, 24344687, 22504945, 26633545, 27604308, 24430573, 20598274
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	OPTIC ATROPHY 5 (disorder)	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)	27145208
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sideroblastic anemia	Sideroblastic anemia	rs763817505

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Sideroblastic Anemia	myopathy, lactic acidosis, and sideroblastic anemia	GenCC

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidosis Lactic	Associate	20598274, 24344687, 28395030, 30026338, 35393742
Adenocarcinoma of Lung	Associate	33308216
Anemia	Associate	35393742
Anemia Dyserythropoietic Congenital	Associate	29300242
Anemia Hemolytic	Associate	24344687
Anemia Sideroblastic	Associate	20598274, 28395030, 30026338
Cardiomyopathies	Associate	35393742
Cardiomyopathy Hypertrophic	Associate	28395030
Colorectal Neoplasms	Associate	36154909
Deafness	Associate	31685661
Essential Hypertension	Associate	38562030
Hypertension	Associate	38562030
Mitochondrial Diseases	Associate	20598274, 24344687, 28395030, 35393742
Mitochondrial Myopathies	Associate	23918765, 24344687, 28395030, 30026338
Muscle Weakness	Associate	28395030
Muscular Diseases	Associate	20598274, 24344687, 28395030, 30026338, 35393742
Myopathy with lactic acidosis and sideroblastic anemia	Associate	20598274, 23918765, 24344687, 25037980, 30026338, 35393742
Noninsulin dependent diabetes mellitus with deafness	Associate	31685661
Optic Atrophy Hereditary Leber	Associate	34156427
Optic Nerve Diseases	Associate	34156427
Pregnancy Complications	Associate	35393742
Pregnancy in Diabetics	Associate	35393742
Respiratory Insufficiency	Associate	28395030
Sideroblastic anemia autosomal	Associate	30026338
Stomach Neoplasms	Associate	36690975
X linked sideroblastic anemia	Associate	24344687, 30026338

YARS2 (tyrosyl-tRNA synthetase 2)