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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23395
Gene name	Leucyl-tRNA synthetase 2, mitochondrial
Gene symbol	LARS2
Synonyms (NCBI Gene)	HLASALEURSPRLTS4mtLeuRS
Chromosome	3
Chromosome location	3p21.31
Summary	This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided b

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34965084	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, missense variant
rs398123036	C>T	Pathogenic	Missense variant, coding sequence variant
rs536853368	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs757204777	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs770440975	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs774649299	C>T	Pathogenic	Coding sequence variant, missense variant
rs776171893	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs786205560	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs864309642	C>T	Pathogenic	Missense variant, coding sequence variant
rs864309643	G>A	Pathogenic	Missense variant, coding sequence variant
rs879255408	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1163473923	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575240334	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1575308774	C>T	Likely-pathogenic	Missense variant, coding sequence variant

269

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miRTarBase ID	miRNA	Experiments	Reference
MIRT043125	hsa-miR-324-5p	CLASH	23622248
MIRT039362	hsa-miR-421	CLASH	23622248
MIRT1104888	hsa-miR-1205	CLIP-seq
MIRT1104889	hsa-miR-1292	CLIP-seq
MIRT1104890	hsa-miR-1294	CLIP-seq
MIRT1104891	hsa-miR-1909	CLIP-seq
MIRT1104892	hsa-miR-2110	CLIP-seq
MIRT1104893	hsa-miR-223	CLIP-seq
MIRT1104894	hsa-miR-2467-5p	CLIP-seq
MIRT1104895	hsa-miR-302f	CLIP-seq
MIRT1104896	hsa-miR-3144-5p	CLIP-seq
MIRT1104897	hsa-miR-3150a-3p	CLIP-seq
MIRT1104898	hsa-miR-3168	CLIP-seq
MIRT1104899	hsa-miR-3170	CLIP-seq
MIRT1104900	hsa-miR-3175	CLIP-seq
MIRT1104901	hsa-miR-3188	CLIP-seq
MIRT1104902	hsa-miR-3545-3p	CLIP-seq
MIRT1104903	hsa-miR-3607-5p	CLIP-seq
MIRT1104904	hsa-miR-3612	CLIP-seq
MIRT1104905	hsa-miR-3975	CLIP-seq
MIRT1104906	hsa-miR-4257	CLIP-seq
MIRT1104907	hsa-miR-4277	CLIP-seq
MIRT1104908	hsa-miR-4316	CLIP-seq
MIRT1104909	hsa-miR-4326	CLIP-seq
MIRT1104910	hsa-miR-4418	CLIP-seq
MIRT1104911	hsa-miR-4471	CLIP-seq
MIRT1104912	hsa-miR-4474-3p	CLIP-seq
MIRT1104913	hsa-miR-4520a-3p	CLIP-seq
MIRT1104914	hsa-miR-4520b-3p	CLIP-seq
MIRT1104915	hsa-miR-4642	CLIP-seq
MIRT1104916	hsa-miR-4650-5p	CLIP-seq
MIRT1104917	hsa-miR-4655-3p	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT1104920	hsa-miR-4711-5p	CLIP-seq
MIRT1104921	hsa-miR-4716-3p	CLIP-seq
MIRT1104922	hsa-miR-4727-3p	CLIP-seq
MIRT1104923	hsa-miR-4731-5p	CLIP-seq
MIRT1104924	hsa-miR-485-5p	CLIP-seq
MIRT1104925	hsa-miR-509-3-5p	CLIP-seq
MIRT1104926	hsa-miR-509-5p	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT1104928	hsa-miR-650	CLIP-seq
MIRT1104929	hsa-miR-939	CLIP-seq
MIRT1104888	hsa-miR-1205	CLIP-seq
MIRT2028867	hsa-miR-1208	CLIP-seq
MIRT2028868	hsa-miR-1289	CLIP-seq
MIRT2028869	hsa-miR-1343	CLIP-seq
MIRT1104891	hsa-miR-1909	CLIP-seq
MIRT2028870	hsa-miR-23a	CLIP-seq
MIRT2028871	hsa-miR-23b	CLIP-seq
MIRT2028872	hsa-miR-23c	CLIP-seq
MIRT1104895	hsa-miR-302f	CLIP-seq
MIRT2028873	hsa-miR-3064-5p	CLIP-seq
MIRT2028874	hsa-miR-3125	CLIP-seq
MIRT1104896	hsa-miR-3144-5p	CLIP-seq
MIRT2028875	hsa-miR-3184	CLIP-seq
MIRT2028876	hsa-miR-3198	CLIP-seq
MIRT1104902	hsa-miR-3545-3p	CLIP-seq
MIRT1104903	hsa-miR-3607-5p	CLIP-seq
MIRT1104904	hsa-miR-3612	CLIP-seq
MIRT2028877	hsa-miR-3914	CLIP-seq
MIRT2028878	hsa-miR-3916	CLIP-seq
MIRT2028879	hsa-miR-3928	CLIP-seq
MIRT2028880	hsa-miR-423-5p	CLIP-seq
MIRT2028881	hsa-miR-4274	CLIP-seq
MIRT1104907	hsa-miR-4277	CLIP-seq
MIRT2028882	hsa-miR-4293	CLIP-seq
MIRT2028883	hsa-miR-4294	CLIP-seq
MIRT2028884	hsa-miR-4309	CLIP-seq
MIRT1104910	hsa-miR-4418	CLIP-seq
MIRT2028885	hsa-miR-4436b-5p	CLIP-seq
MIRT2028886	hsa-miR-4519	CLIP-seq
MIRT2028887	hsa-miR-4524	CLIP-seq
MIRT2028888	hsa-miR-4539	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT2028889	hsa-miR-4688	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT2028890	hsa-miR-4710	CLIP-seq
MIRT1104921	hsa-miR-4716-3p	CLIP-seq
MIRT2028891	hsa-miR-4792	CLIP-seq
MIRT2028892	hsa-miR-4797-5p	CLIP-seq
MIRT2028893	hsa-miR-483-3p	CLIP-seq
MIRT1104925	hsa-miR-509-3-5p	CLIP-seq
MIRT1104926	hsa-miR-509-5p	CLIP-seq
MIRT2028894	hsa-miR-515-3p	CLIP-seq
MIRT2028895	hsa-miR-516b	CLIP-seq
MIRT2028896	hsa-miR-519e	CLIP-seq
MIRT2028897	hsa-miR-548aa	CLIP-seq
MIRT2028898	hsa-miR-604	CLIP-seq
MIRT2028899	hsa-miR-617	CLIP-seq
MIRT2028900	hsa-miR-628-5p	CLIP-seq
MIRT2028901	hsa-miR-634	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT2028902	hsa-miR-647	CLIP-seq
MIRT1104928	hsa-miR-650	CLIP-seq
MIRT2028903	hsa-miR-760	CLIP-seq
MIRT2259724	hsa-miR-1236	CLIP-seq
MIRT1104904	hsa-miR-3612	CLIP-seq
MIRT2259725	hsa-miR-3652	CLIP-seq
MIRT2259726	hsa-miR-3691-3p	CLIP-seq
MIRT1104907	hsa-miR-4277	CLIP-seq
MIRT2028882	hsa-miR-4293	CLIP-seq
MIRT2259727	hsa-miR-4430	CLIP-seq
MIRT2028885	hsa-miR-4436b-5p	CLIP-seq
MIRT2259728	hsa-miR-4505	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT2028890	hsa-miR-4710	CLIP-seq
MIRT2028891	hsa-miR-4792	CLIP-seq
MIRT2028893	hsa-miR-483-3p	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT1104928	hsa-miR-650	CLIP-seq
MIRT2028885	hsa-miR-4436b-5p	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT2452866	hsa-miR-3173-3p	CLIP-seq
MIRT1104906	hsa-miR-4257	CLIP-seq
MIRT1104909	hsa-miR-4326	CLIP-seq
MIRT1104917	hsa-miR-4655-3p	CLIP-seq
MIRT2560213	hsa-miR-124	CLIP-seq
MIRT2560214	hsa-miR-1254	CLIP-seq
MIRT2560215	hsa-miR-132	CLIP-seq
MIRT2028869	hsa-miR-1343	CLIP-seq
MIRT2560216	hsa-miR-1915	CLIP-seq
MIRT2560217	hsa-miR-204	CLIP-seq
MIRT2560218	hsa-miR-211	CLIP-seq
MIRT2560219	hsa-miR-212	CLIP-seq
MIRT2560220	hsa-miR-25	CLIP-seq
MIRT2560221	hsa-miR-3064-3p	CLIP-seq
MIRT2028873	hsa-miR-3064-5p	CLIP-seq
MIRT2560222	hsa-miR-3116	CLIP-seq
MIRT2560223	hsa-miR-3155	CLIP-seq
MIRT2560224	hsa-miR-3155b	CLIP-seq
MIRT2560225	hsa-miR-3166	CLIP-seq
MIRT2560226	hsa-miR-3176	CLIP-seq
MIRT2560227	hsa-miR-32	CLIP-seq
MIRT2560228	hsa-miR-331-3p	CLIP-seq
MIRT2560229	hsa-miR-3617	CLIP-seq
MIRT2560230	hsa-miR-3622a-3p	CLIP-seq
MIRT2560231	hsa-miR-3622b-3p	CLIP-seq
MIRT2560232	hsa-miR-363	CLIP-seq
MIRT2560233	hsa-miR-367	CLIP-seq
MIRT2560234	hsa-miR-3714	CLIP-seq
MIRT2560235	hsa-miR-3910	CLIP-seq
MIRT2560236	hsa-miR-3922-3p	CLIP-seq
MIRT2560237	hsa-miR-4292	CLIP-seq
MIRT2560238	hsa-miR-4313	CLIP-seq
MIRT1104909	hsa-miR-4326	CLIP-seq
MIRT2560239	hsa-miR-4446-5p	CLIP-seq
MIRT2560240	hsa-miR-4530	CLIP-seq
MIRT2560241	hsa-miR-4640-5p	CLIP-seq
MIRT1104916	hsa-miR-4650-5p	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT2560242	hsa-miR-4700-3p	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT2560243	hsa-miR-4709-5p	CLIP-seq
MIRT2560244	hsa-miR-4726-3p	CLIP-seq
MIRT2560245	hsa-miR-4726-5p	CLIP-seq
MIRT2560246	hsa-miR-4740-3p	CLIP-seq
MIRT2560247	hsa-miR-4755-5p	CLIP-seq
MIRT2560248	hsa-miR-4757-5p	CLIP-seq
MIRT2560249	hsa-miR-484	CLIP-seq
MIRT2560250	hsa-miR-505	CLIP-seq
MIRT2560251	hsa-miR-506	CLIP-seq
MIRT2560252	hsa-miR-511	CLIP-seq
MIRT2028894	hsa-miR-515-3p	CLIP-seq
MIRT2560253	hsa-miR-516a-3p	CLIP-seq
MIRT2028896	hsa-miR-519e	CLIP-seq
MIRT2028898	hsa-miR-604	CLIP-seq
MIRT2560254	hsa-miR-623	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT2560255	hsa-miR-641	CLIP-seq
MIRT2028902	hsa-miR-647	CLIP-seq
MIRT2560256	hsa-miR-922	CLIP-seq
MIRT2560257	hsa-miR-92a	CLIP-seq
MIRT2560258	hsa-miR-92b	CLIP-seq
MIRT2683772	hsa-miR-1225-3p	CLIP-seq
MIRT2683773	hsa-miR-1233	CLIP-seq
MIRT2560213	hsa-miR-124	CLIP-seq
MIRT2560214	hsa-miR-1254	CLIP-seq
MIRT2683774	hsa-miR-1256	CLIP-seq
MIRT2683775	hsa-miR-1268	CLIP-seq
MIRT2683776	hsa-miR-1268b	CLIP-seq
MIRT2028868	hsa-miR-1289	CLIP-seq
MIRT2560215	hsa-miR-132	CLIP-seq
MIRT2028869	hsa-miR-1343	CLIP-seq
MIRT2683777	hsa-miR-1587	CLIP-seq
MIRT2560216	hsa-miR-1915	CLIP-seq
MIRT2560217	hsa-miR-204	CLIP-seq
MIRT2560218	hsa-miR-211	CLIP-seq
MIRT2560219	hsa-miR-212	CLIP-seq
MIRT2560220	hsa-miR-25	CLIP-seq
MIRT2560221	hsa-miR-3064-3p	CLIP-seq
MIRT2028873	hsa-miR-3064-5p	CLIP-seq
MIRT2683778	hsa-miR-3065-5p	CLIP-seq
MIRT2560222	hsa-miR-3116	CLIP-seq
MIRT2560223	hsa-miR-3155	CLIP-seq
MIRT2560224	hsa-miR-3155b	CLIP-seq
MIRT2683779	hsa-miR-3162-3p	CLIP-seq
MIRT2560225	hsa-miR-3166	CLIP-seq
MIRT2452866	hsa-miR-3173-3p	CLIP-seq
MIRT2560226	hsa-miR-3176	CLIP-seq
MIRT2683780	hsa-miR-3180	CLIP-seq
MIRT2683781	hsa-miR-3180-3p	CLIP-seq
MIRT2683782	hsa-miR-3196	CLIP-seq
MIRT2028876	hsa-miR-3198	CLIP-seq
MIRT2560227	hsa-miR-32	CLIP-seq
MIRT2683783	hsa-miR-3202	CLIP-seq
MIRT2683784	hsa-miR-326	CLIP-seq
MIRT2683785	hsa-miR-330-5p	CLIP-seq
MIRT2560228	hsa-miR-331-3p	CLIP-seq
MIRT2560229	hsa-miR-3617	CLIP-seq
MIRT2560230	hsa-miR-3622a-3p	CLIP-seq
MIRT2560231	hsa-miR-3622b-3p	CLIP-seq
MIRT2560232	hsa-miR-363	CLIP-seq
MIRT2560233	hsa-miR-367	CLIP-seq
MIRT2560234	hsa-miR-3714	CLIP-seq
MIRT2683786	hsa-miR-378g	CLIP-seq
MIRT2560235	hsa-miR-3910	CLIP-seq
MIRT2560236	hsa-miR-3922-3p	CLIP-seq
MIRT2560237	hsa-miR-4292	CLIP-seq
MIRT2028883	hsa-miR-4294	CLIP-seq
MIRT2028884	hsa-miR-4309	CLIP-seq
MIRT2560238	hsa-miR-4313	CLIP-seq
MIRT2683787	hsa-miR-4317	CLIP-seq
MIRT1104909	hsa-miR-4326	CLIP-seq
MIRT2560239	hsa-miR-4446-5p	CLIP-seq
MIRT2683788	hsa-miR-4492	CLIP-seq
MIRT2683789	hsa-miR-4498	CLIP-seq
MIRT2560240	hsa-miR-4530	CLIP-seq
MIRT2683790	hsa-miR-4533	CLIP-seq
MIRT2560241	hsa-miR-4640-5p	CLIP-seq
MIRT1104916	hsa-miR-4650-5p	CLIP-seq
MIRT2683791	hsa-miR-4656	CLIP-seq
MIRT2683792	hsa-miR-4659a-5p	CLIP-seq
MIRT2683793	hsa-miR-4659b-5p	CLIP-seq
MIRT1104918	hsa-miR-4667-5p	CLIP-seq
MIRT2683794	hsa-miR-4675	CLIP-seq
MIRT2683795	hsa-miR-4687-5p	CLIP-seq
MIRT2560242	hsa-miR-4700-3p	CLIP-seq
MIRT1104919	hsa-miR-4700-5p	CLIP-seq
MIRT2560243	hsa-miR-4709-5p	CLIP-seq
MIRT2560244	hsa-miR-4726-3p	CLIP-seq
MIRT2560245	hsa-miR-4726-5p	CLIP-seq
MIRT2560246	hsa-miR-4740-3p	CLIP-seq
MIRT2683796	hsa-miR-4741	CLIP-seq
MIRT2683797	hsa-miR-4746-3p	CLIP-seq
MIRT2560247	hsa-miR-4755-5p	CLIP-seq
MIRT2560248	hsa-miR-4757-5p	CLIP-seq
MIRT2683798	hsa-miR-4776-3p	CLIP-seq
MIRT2560249	hsa-miR-484	CLIP-seq
MIRT2560250	hsa-miR-505	CLIP-seq
MIRT2560251	hsa-miR-506	CLIP-seq
MIRT2560252	hsa-miR-511	CLIP-seq
MIRT2028894	hsa-miR-515-3p	CLIP-seq
MIRT2560253	hsa-miR-516a-3p	CLIP-seq
MIRT2028895	hsa-miR-516b	CLIP-seq
MIRT2028896	hsa-miR-519e	CLIP-seq
MIRT2028898	hsa-miR-604	CLIP-seq
MIRT2560254	hsa-miR-623	CLIP-seq
MIRT1104927	hsa-miR-637	CLIP-seq
MIRT2560255	hsa-miR-641	CLIP-seq
MIRT2028903	hsa-miR-760	CLIP-seq
MIRT2683799	hsa-miR-762	CLIP-seq
MIRT2560256	hsa-miR-922	CLIP-seq
MIRT2560257	hsa-miR-92a	CLIP-seq
MIRT2560258	hsa-miR-92b	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004823	Function	Leucine-tRNA ligase activity	IBA
GO:0004823	Function	Leucine-tRNA ligase activity	IDA	10684970, 26537577
GO:0004823	Function	Leucine-tRNA ligase activity	IEA
GO:0004823	Function	Leucine-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	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:0006429	Process	Leucyl-tRNA aminoacylation	IBA
GO:0006429	Process	Leucyl-tRNA aminoacylation	IDA	10684970
GO:0006429	Process	Leucyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0032543	Process	Mitochondrial translation	IBA
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA

MIM	HGNC	e!Ensembl
604544	17095	ENSG00000011376

Q15031

Protein name

Leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (Leucyl-tRNA synthetase) (LeuRS)

Protein function

Catalyzes the attachment of leucine to its cognate tRNA.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00133	tRNA-synt_1	58 → 433	tRNA synthetases class I (I, L, M and V)	Family
PF00133	tRNA-synt_1	439 → 606	tRNA synthetases class I (I, L, M and V)	Family
PF00133	tRNA-synt_1	631 → 679	tRNA synthetases class I (I, L, M and V)	Family
PF08264	Anticodon_1	725 → 868	Anticodon-binding domain of tRNA ligase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney. {ECO:0000269|PubMed:20194621}.

Sequence

MASVWQRLGFYASLLKRQLNGGPDVIKWERRVIPGCTRSIYSATGKWTKEYTLQTRKDVE
KWWHQRIKEQASKISEADKSKPKFYVLSMFPYPSGKLHMGHVRVYTISDTIARFQKMRGM
QVINPMGWDAFGLPAENAAVERNLHPQSWTQSNIKHMRKQLDRLGLCFSWDREITTCLPD
YYKWTQYLFIKLYEAGLAYQKEALVNWDPVDQTVLANEQVDEHGCSWRSGAKVEQKYLRQ
WFIKTTAYAKAMQDALADLPEWYGIKGMQAHWIGDCVGCHLDFTLKVHGQATGEKLTAYT
ATPEAIYGTSHVAISPSHRLLHGHSSLKEALRMALVPGKDCLTPVMAVNMLTQQEVPVVI
LAKADLEGSLDSKIGIPSTSSEDTILAQTLGLAYSEVIETLPDGTERLSSSAEFTGMTRQ
DAFLALTQKARGKRVGGDVTSDKLKDWLISRQRYWGTPIPIVHCPVCGPTPVPLEDLPVT
LPNIASFTGKGGPPLAMASEWVNCSCPRCKGAAKRETDTMDTFVDSAWYYFRYTDPHNPH
SPFNTAVADYWMPVDLYIGGKEHAVMHLFYARFFSHFCHDQKMVKHREPFHKLLAQGLIK
GQTFRLPSGQYLQREEVDLTGSVPVHAKTKEKLEVTWEKMSKSKHNGVDPEEVVEQYGID
TIRLYILFAAPPEKDILWDVKTDALPGVLRWQQRLWTLTTRFIEARASGKSPQPQLLSNK
EKAEARKLWEYKNSVISQVTTHFTEDFSLNSAISQLMGLSNALSQASQSVILHSPEFEDA
LCALMVMAAPLAPHVTSEIWAGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQ
MAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFL
VQD

Sequence length

903

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	Likely pathogenic; Pathogenic	rs764828665, rs786205560, rs879255606, rs1575240334, rs536853368, rs770440975, rs1575289366, rs1575292827, rs1575308774, rs199589947	RCV001844371 RCV000723297 RCV000235638 RCV000993583 RCV002470994 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inborn mitochondrial myopathy	Likely pathogenic	rs757204777	RCV000993587	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LARS2-related disorder	Likely pathogenic; Pathogenic	rs2529002022, rs199589947	RCV004731514 RCV004730866	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LARS2-Related Disorders	Pathogenic; Likely pathogenic	rs759532553, rs199589947	RCV005419228 RCV004689437	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs762797278, rs398123036	RCV001544529 RCV001544530	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome	Likely pathogenic; Pathogenic	rs786205560, rs199589947, rs398123036, rs398123037, rs749627411	RCV000857233 RCV000857234 RCV002513678 RCV002513679 RCV002542964	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perrault syndrome 4	Pathogenic; Likely pathogenic	rs1698009919, rs2125750668, rs1269970737, rs2529102620, rs786205560, rs864309643, rs2529002022, rs763616548, rs776171893, rs774649299, rs1559484149, rs536853368, rs770440975, rs1575292827, rs199589947, rs398123036, rs398123037, rs749627411 View all (3 more)	RCV001823289 RCV001823239 RCV002279768 RCV002288249 RCV001727613 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs1553635112, rs199589947	RCV000608365 RCV000604453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, SIDEROBLASTIC ANEMIA, MULTISYSTEMIC FAILURE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL MYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	7873876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	32767731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	19129950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30737337, 32767731, 34997062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15919814, 19847392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15919814, 19847392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	23541342, 26657938, 26970254, 28263850, 29205794, 31274036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG	23541342, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	CLINGEN_DG	23541342, 26537577, 26657938, 26970254, 27650058, 28000701, 28263850, 28832386, 29205794		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	ORPHANET_DG	23541342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal dysgenesis	Pubtator	23541342, 26657938, 27087618, 31274036, 32767731, 36450801, 37932750	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	23541342, 32842620, 34997062, 36450801	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	32767731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	GENOMICS_ENGLAND_DG	26537577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	UNIPROT_DG	26537577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	ORPHANET_DG	26537577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	34183386	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	30737337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	Melas syndrome	Pubtator	15581630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	15581630, 30737337, 35585880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19129950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19129950	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31205503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29762635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	30737337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28851441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Perrault syndrome	Perrault Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 4	Perrault Syndrome	UNIPROT_DG	23541342		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 4	Perrault Syndrome	GENOMICS_ENGLAND_DG	23541342, 27604308, 9408748		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 4	Perrault Syndrome	CLINVAR_DG	26657938		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15737668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26970254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	30737337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LARS2 (leucyl-tRNA synthetase 2, mitochondrial)