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.	92935
Gene name Gene Name - the full gene name approved by the HGNC.	Methionyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MARS2
Synonyms (NCBI Gene) Gene synonyms aliases	COXPD25, MetRS, mtMetRS
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q33.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs754121141	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs757649757	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794726869	C>T	Pathogenic	Coding sequence variant, stop gained
rs794726870	C>T	Pathogenic	Coding sequence variant, missense variant
rs1340079929	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553608221	GGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATT	Pathogenic	Frameshift variant, coding sequence variant
rs1559379585	A>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(229)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001618	hsa-let-7b-5p	pSILAC	18668040
MIRT045487	hsa-miR-149-5p	CLASH	23622248
MIRT564172	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT564170	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT564171	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT564169	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT564168	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT564167	hsa-miR-4533	PAR-CLIP	20371350
MIRT564166	hsa-miR-3202	PAR-CLIP	20371350
MIRT564165	hsa-miR-3612	PAR-CLIP	20371350
MIRT564164	hsa-miR-650	PAR-CLIP	20371350
MIRT564163	hsa-miR-6079	PAR-CLIP	20371350
MIRT001618	hsa-let-7b-5p	PAR-CLIP	26701625
MIRT564172	hsa-miR-3173-3p	PAR-CLIP	20371350
MIRT564170	hsa-miR-6891-5p	PAR-CLIP	20371350
MIRT564171	hsa-miR-4695-5p	PAR-CLIP	20371350
MIRT564169	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT564168	hsa-miR-1252-5p	PAR-CLIP	20371350
MIRT564167	hsa-miR-4533	PAR-CLIP	20371350
MIRT564166	hsa-miR-3202	PAR-CLIP	20371350
MIRT564165	hsa-miR-3612	PAR-CLIP	20371350
MIRT564164	hsa-miR-650	PAR-CLIP	20371350
MIRT564163	hsa-miR-6079	PAR-CLIP	20371350
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT1132774	hsa-miR-1261	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132779	hsa-miR-202	CLIP-seq
MIRT1132780	hsa-miR-21	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132782	hsa-miR-27a	CLIP-seq
MIRT1132783	hsa-miR-27b	CLIP-seq
MIRT1132784	hsa-miR-3074-5p	CLIP-seq
MIRT1132785	hsa-miR-3124-3p	CLIP-seq
MIRT1132786	hsa-miR-3157-3p	CLIP-seq
MIRT1132787	hsa-miR-3545-3p	CLIP-seq
MIRT1132788	hsa-miR-3653	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT1132790	hsa-miR-3692	CLIP-seq
MIRT1132791	hsa-miR-3923	CLIP-seq
MIRT1132792	hsa-miR-3941	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT1132794	hsa-miR-4293	CLIP-seq
MIRT1132795	hsa-miR-4317	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132797	hsa-miR-4324	CLIP-seq
MIRT1132798	hsa-miR-455-5p	CLIP-seq
MIRT1132799	hsa-miR-466	CLIP-seq
MIRT1132800	hsa-miR-4672	CLIP-seq
MIRT1132801	hsa-miR-4699-3p	CLIP-seq
MIRT1132802	hsa-miR-4717-3p	CLIP-seq
MIRT1132803	hsa-miR-4731-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132805	hsa-miR-4801	CLIP-seq
MIRT1132806	hsa-miR-4802-3p	CLIP-seq
MIRT1132807	hsa-miR-490-5p	CLIP-seq
MIRT1132808	hsa-miR-491-3p	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132810	hsa-miR-501-3p	CLIP-seq
MIRT1132811	hsa-miR-502-3p	CLIP-seq
MIRT1132812	hsa-miR-5096	CLIP-seq
MIRT1132813	hsa-miR-513a-5p	CLIP-seq
MIRT1132814	hsa-miR-520d-5p	CLIP-seq
MIRT1132815	hsa-miR-524-5p	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132820	hsa-miR-570	CLIP-seq
MIRT1132821	hsa-miR-579	CLIP-seq
MIRT1132822	hsa-miR-590-5p	CLIP-seq
MIRT1132823	hsa-miR-596	CLIP-seq
MIRT1132824	hsa-miR-874	CLIP-seq
MIRT1132825	hsa-miR-938	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT2037853	hsa-miR-1252	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132785	hsa-miR-3124-3p	CLIP-seq
MIRT2037854	hsa-miR-3617	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT2037855	hsa-miR-4310	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132802	hsa-miR-4717-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT2037856	hsa-miR-641	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132772	hsa-miR-1245	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT2267883	hsa-miR-1269	CLIP-seq
MIRT2267884	hsa-miR-1269b	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT2267885	hsa-miR-141	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT2267886	hsa-miR-200a	CLIP-seq
MIRT1132780	hsa-miR-21	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132782	hsa-miR-27a	CLIP-seq
MIRT1132783	hsa-miR-27b	CLIP-seq
MIRT2267887	hsa-miR-28-5p	CLIP-seq
MIRT2267888	hsa-miR-3139	CLIP-seq
MIRT2267889	hsa-miR-361-5p	CLIP-seq
MIRT2037854	hsa-miR-3617	CLIP-seq
MIRT2267890	hsa-miR-3622a-3p	CLIP-seq
MIRT2267891	hsa-miR-3622b-3p	CLIP-seq
MIRT2267892	hsa-miR-3646	CLIP-seq
MIRT1132788	hsa-miR-3653	CLIP-seq
MIRT1132789	hsa-miR-3658	CLIP-seq
MIRT1132790	hsa-miR-3692	CLIP-seq
MIRT2267893	hsa-miR-3919	CLIP-seq
MIRT1132791	hsa-miR-3923	CLIP-seq
MIRT2267894	hsa-miR-3936	CLIP-seq
MIRT1132792	hsa-miR-3941	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT2267895	hsa-miR-4269	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT2267896	hsa-miR-4496	CLIP-seq
MIRT2267897	hsa-miR-4529-3p	CLIP-seq
MIRT1132798	hsa-miR-455-5p	CLIP-seq
MIRT1132799	hsa-miR-466	CLIP-seq
MIRT1132800	hsa-miR-4672	CLIP-seq
MIRT2267898	hsa-miR-4690-5p	CLIP-seq
MIRT1132803	hsa-miR-4731-3p	CLIP-seq
MIRT2267899	hsa-miR-4753-3p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT2267900	hsa-miR-4766-3p	CLIP-seq
MIRT2267901	hsa-miR-4766-5p	CLIP-seq
MIRT1132805	hsa-miR-4801	CLIP-seq
MIRT2267902	hsa-miR-488	CLIP-seq
MIRT1132809	hsa-miR-495	CLIP-seq
MIRT1132812	hsa-miR-5096	CLIP-seq
MIRT1132813	hsa-miR-513a-5p	CLIP-seq
MIRT2267903	hsa-miR-539	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132821	hsa-miR-579	CLIP-seq
MIRT1132822	hsa-miR-590-5p	CLIP-seq
MIRT2037856	hsa-miR-641	CLIP-seq
MIRT2267904	hsa-miR-708	CLIP-seq
MIRT2267905	hsa-miR-873	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132775	hsa-miR-1273g	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132796	hsa-miR-4318	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq
MIRT2567534	hsa-miR-4725-5p	CLIP-seq
MIRT2567535	hsa-miR-504	CLIP-seq
MIRT1132764	hsa-let-7a	CLIP-seq
MIRT1132765	hsa-let-7b	CLIP-seq
MIRT1132766	hsa-let-7c	CLIP-seq
MIRT1132767	hsa-let-7d	CLIP-seq
MIRT1132768	hsa-let-7e	CLIP-seq
MIRT1132769	hsa-let-7f	CLIP-seq
MIRT1132770	hsa-let-7g	CLIP-seq
MIRT1132771	hsa-let-7i	CLIP-seq
MIRT1132773	hsa-miR-1253	CLIP-seq
MIRT1132776	hsa-miR-196a	CLIP-seq
MIRT1132777	hsa-miR-196b	CLIP-seq
MIRT1132778	hsa-miR-1972	CLIP-seq
MIRT1132781	hsa-miR-2467-3p	CLIP-seq
MIRT1132793	hsa-miR-4251	CLIP-seq
MIRT1132794	hsa-miR-4293	CLIP-seq
MIRT1132797	hsa-miR-4324	CLIP-seq
MIRT2567534	hsa-miR-4725-5p	CLIP-seq
MIRT1132804	hsa-miR-4755-3p	CLIP-seq
MIRT2567535	hsa-miR-504	CLIP-seq
MIRT1132816	hsa-miR-548aa	CLIP-seq
MIRT1132817	hsa-miR-548ac	CLIP-seq
MIRT1132818	hsa-miR-548d-3p	CLIP-seq
MIRT1132819	hsa-miR-548z	CLIP-seq
MIRT1132823	hsa-miR-596	CLIP-seq
MIRT1132826	hsa-miR-98	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004825	Function	Methionine-tRNA ligase activity	IBA
GO:0004825	Function	Methionine-tRNA ligase activity	IDA	15274629
GO:0004825	Function	Methionine-tRNA ligase activity	IEA
GO:0004825	Function	Methionine-tRNA ligase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	15274629
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006431	Process	Methionyl-tRNA aminoacylation	IBA
GO:0006431	Process	Methionyl-tRNA aminoacylation	IDA	15274629
GO:0006431	Process	Methionyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA

MIM	HGNC	e!Ensembl
609728	25133	ENSG00000247626

Protein

UniProt ID

Q96GW9

Protein name

Methionine--tRNA ligase, mitochondrial (EC 6.1.1.10) (Methionyl-tRNA synthetase 2) (Mitochondrial methionyl-tRNA synthetase) (MtMetRS)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09334	tRNA-synt_1g	45 → 411	tRNA synthetases class I (M)	Family

Sequence

MLRTSVLRLLGRTGASRLSLLEDFGPRYYSSGSLSAGDDACDVRAYFTTPIFYVNAAPHI
GHLYSALLADALCRHRRLRGPSTAATRFSTGTDEHGLKIQQAAATAGLAPTELCDRVSEQ
FQQLFQEAGISCTDFIRTTEARHRVAVQHFWGVLKSRGLLYKGVYEGWYCASDECFLPEA
KVTQQPGPSGDSFPVSLESGHPVSWTKEENYIFRLSQFRKPLQRWLRGNPQAITPEPFHH
VVLQWLDEELPDLSVSRRSSHLHWGIPVPGDDSQTIYVWLDALVNYLTVIGYPNAEFKSW
WPATSHIIGKDILKFHAIYWPAFLLGAGMSPPQRICVHSHWTVCGQKMSKSLGNVVDPRT
CLNRYTVDGFRYFLLRQGVPNWDCDYYDEKVVKLLNSELADALGGLLNRCTAKRINPSET
YPAFCTTCFPSEPGLVGPSVRAQAEDYALVSAVATLPKQVADHYDNFRIYKALEAVSSCV
RQTNGFVQRHAPWKLNWESPVDAPWLGTVLHVALECLRVFGTLLQPVTPSLADKLLSRLG
VSASERSLGELYFLPRFYGHPCPFEGRRLGPETGLLFPRLDQSRTWLVKAHRT

Sequence length

593

Interactions

View interactions

	KEGG		Reactome
	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Combined Oxidative Phosphorylation Deficiency	combined oxidative phosphorylation defect type 25	rs794726869	N/A
Spastic Ataxia	Spastic ataxia 3	rs1553608221	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	39380996
Carcinoma Non Small Cell Lung	Associate	36774778
Developmental Disabilities	Associate	25754315
Hearing Loss Sensorineural	Associate	25754315
Mitochondrial Diseases	Associate	25754315, 39874649
Muscle Hypotonia	Associate	25754315
Parkinson Disease	Associate	33276480
Pectus Carinatum	Associate	25754315
Pulmonary Alveolar Proteinosis	Associate	34503986

MARS2 (methionyl-tRNA synthetase 2, mitochondrial)