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.	57038
Gene name Gene Name - the full gene name approved by the HGNC.	Arginyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RARS2
Synonyms (NCBI Gene) Gene synonyms aliases	ArgRS, DALRD2, PCH6, PRO1992, RARSL
Disease Acronyms (UniProt) Disease acronyms from UniProt database	PCH6
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q15
Summary Summary 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

Show/Hide all(39)

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

Show/Hide all(61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027320	hsa-miR-101-3p	Sequencing	20371350
MIRT028668	hsa-miR-30a-5p	Proteomics	18668040
MIRT030355	hsa-miR-26b-5p	Sequencing	20371350
MIRT722414	hsa-miR-499a-3p	HITS-CLIP	19536157
MIRT722413	hsa-miR-499b-3p	HITS-CLIP	19536157
MIRT722412	hsa-miR-377-5p	HITS-CLIP	19536157
MIRT722411	hsa-miR-6086	HITS-CLIP	19536157
MIRT722410	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT722409	hsa-miR-3689d	HITS-CLIP	19536157
MIRT722407	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT722408	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT722406	hsa-miR-455-3p	HITS-CLIP	19536157
MIRT722405	hsa-miR-6516-5p	HITS-CLIP	19536157
MIRT710077	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT710076	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707279	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707278	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707277	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT516294	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516293	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516292	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT439816	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439816	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT722414	hsa-miR-499a-3p	HITS-CLIP	19536157
MIRT722413	hsa-miR-499b-3p	HITS-CLIP	19536157
MIRT722412	hsa-miR-377-5p	HITS-CLIP	19536157
MIRT722411	hsa-miR-6086	HITS-CLIP	19536157
MIRT722410	hsa-miR-6499-3p	HITS-CLIP	19536157
MIRT722409	hsa-miR-3689d	HITS-CLIP	19536157
MIRT722407	hsa-miR-6851-5p	HITS-CLIP	19536157
MIRT722408	hsa-miR-7847-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT722406	hsa-miR-455-3p	HITS-CLIP	19536157
MIRT722405	hsa-miR-6516-5p	HITS-CLIP	19536157
MIRT710077	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT710076	hsa-miR-146b-3p	HITS-CLIP	19536157
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT710075	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707279	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707278	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT707277	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT516294	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT516293	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT516292	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT516294	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516293	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516292	hsa-miR-1277-5p	PAR-CLIP	23446348

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004814	Function	Arginine-tRNA ligase activity	IBA	21873635
GO:0004814	Function	Arginine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006420	Process	Arginyl-tRNA aminoacylation	IBA	21873635
GO:0032543	Process	Mitochondrial translation	IBA	21873635

MIM	HGNC	e!Ensembl
611524	21406	ENSG00000146282

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

MACGFRRAIACQLSRVLNLPPENLITSISAVPISQKEEVADFQLSVDSLLEKDNDHSRPD
IQVQAKRLAEKLRCDTVVSEISTGQRTVNFKINRELLTKTVLQQVIEDGSKYGLKSELFS
GLPQKKIVVEFSSPNVAKKFHVGHLRSTIIGNFIANLKEALGHQVIRINYLGDWGMQFGL
LGTGFQLFGYEEKLQSNPLQHLFEVYVQVNKEAADDKSVAKAAQEFFQRLELGDVQALSL
WQKFRDLSIEEYIRVYKRLGVYFDEYSGESFYREKSQEVLKLLESKGLLLKTIKGTAVVD
LSGNGDPSSICTVMRSDGTSLYATRDLAAAIDRMDKYNFDTMIYVTDKGQKKHFQQVFQM
LKIMGYDWAERCQHVPFGVVQGMKTRRGDVTFLEDVLNEIQLRMLQNMASIKTTKELKNP
QETAERVGLAALIIQDFKGLLLSDYKFSWDRVFQSRGDTGVFLQYTHARLHSLEETFGCG
YLNDFNTACLQEPQSVSILQHLLRFDEVLYKSSQDFQPRHIVSYLLTLSHLAAVAHKTLQ
IKDSPPEVAGARLHLFKAVRSVLANGMKLLGITPVCRM

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)	20635367
Pontoneocerebellar hypoplasia	Pontocerebellar Hypoplasia Type 1, Pontocerebellar Hypoplasia Type 6, Pontocerebellar hypoplasia type 1, Congenital pontocerebellar hypoplasia	rs63749985, rs113994152, rs113994153, rs113994154, rs113994150, rs137853063, rs267607036, rs267607035, rs886037629, rs147391618, rs141138948, rs672601331, rs387907196, rs672601332, rs397515426 View all (108 more)	20952379, 27061686, 27604308, 22086604, 26083569, 20635367, 25356970, 24896178, 26795593
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 View all (280 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mitochondrial Diseases	mitochondrial disease	GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder	GenCC

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidosis Lactic	Associate	27769281, 34717047
Ataxia Neuropathy Spectrum	Associate	34600502
Brain Diseases	Associate	25809939, 37344844
Cardiomyopathies	Associate	26083569
Cerebellar Hypoplasia	Associate	27769281
Death	Associate	26083569
Edema	Associate	26083569
Epilepsies Myoclonic	Associate	34717047
Epilepsy	Associate	34717047
Epileptic Encephalopathy Early Infantile 3	Associate	34717047
Hydrops Fetalis	Associate	26083569
Infantile Epileptic Dyskinetic Encephalopathy	Associate	34717047
Lung agenesis	Associate	26083569
MERRF Syndrome	Associate	26083569
Mitochondrial Diseases	Associate	26083569
Nerve Degeneration	Associate	26083569
Pontocerebellar Hypoplasia	Associate	17847012, 20952379, 25809939, 27769281, 34717047, 37344844
Pontocerebellar Hypoplasia Type 1	Associate	20952379, 27061686, 27769281
Pontocerebellar Hypoplasia Type 2	Associate	27061686
Pontocerebellar Hypoplasia Type 6	Associate	20952379, 25809939, 26083569, 27061686, 27769281, 37344844
Seizures	Associate	27769281, 34717047
Spasms Infantile	Associate	27061686

RARS2 (arginyl-tRNA synthetase 2, mitochondrial)