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	57505
Gene name	Alanyl-tRNA synthetase 2, mitochondrial
Gene symbol	AARS2
Synonyms (NCBI Gene)	AARSLCOXPD8LKENPMT-ALARSMTALARS
Chromosome	6
Chromosome location	6p21.1
Summary	The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme t

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SNP ID	Visualize variation	Clinical significance	Consequence
rs138119149	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs139372744	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs146512155	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs147091256	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs199919912	C>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs200105202	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs200187887	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs200781477	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs368934219	T>C	Pathogenic	Splice acceptor variant
rs387907061	A>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs543267101	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs545566267	C>G,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs587777589	->C	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587777590	A>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs587777591	G>A	Pathogenic	Stop gained, coding sequence variant
rs587777592	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs751187394	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs766771165	->A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs768351915	C>A	Pathogenic	Splice donor variant
rs775065697	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs780343109	TGAGTAGGAGCACAGACGTGCTGGGGGC>-	Conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant
rs863223862	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs971969514	->C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1085307969	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1167314179	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1170907347	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554147776	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554148927	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1561938413	T>G	Pathogenic	Missense variant, coding sequence variant

315

Show/Hide all (315)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049144	hsa-miR-92a-3p	CLASH	23622248
MIRT046318	hsa-miR-23b-3p	CLASH	23622248
MIRT043972	hsa-miR-378a-5p	CLASH	23622248
MIRT041862	hsa-miR-484	CLASH	23622248
MIRT757294	hsa-miR-1178	CLIP-seq
MIRT757295	hsa-miR-1193	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT757297	hsa-miR-1227	CLIP-seq
MIRT757298	hsa-miR-1273f	CLIP-seq
MIRT757299	hsa-miR-129-5p	CLIP-seq
MIRT757300	hsa-miR-1343	CLIP-seq
MIRT757301	hsa-miR-1538	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT757303	hsa-miR-197	CLIP-seq
MIRT757304	hsa-miR-203	CLIP-seq
MIRT757305	hsa-miR-2392	CLIP-seq
MIRT757306	hsa-miR-27a	CLIP-seq
MIRT757307	hsa-miR-27b	CLIP-seq
MIRT757308	hsa-miR-3135b	CLIP-seq
MIRT757309	hsa-miR-3136-3p	CLIP-seq
MIRT757310	hsa-miR-3149	CLIP-seq
MIRT757311	hsa-miR-3170	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757313	hsa-miR-3199	CLIP-seq
MIRT757314	hsa-miR-328	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT757316	hsa-miR-3672	CLIP-seq
MIRT757317	hsa-miR-3686	CLIP-seq
MIRT757318	hsa-miR-3934	CLIP-seq
MIRT757319	hsa-miR-3944-5p	CLIP-seq
MIRT757320	hsa-miR-411	CLIP-seq
MIRT757321	hsa-miR-4263	CLIP-seq
MIRT757322	hsa-miR-4426	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT757324	hsa-miR-4438	CLIP-seq
MIRT757325	hsa-miR-4466	CLIP-seq
MIRT757326	hsa-miR-4647	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT757329	hsa-miR-4662a-5p	CLIP-seq
MIRT757330	hsa-miR-4662b	CLIP-seq
MIRT757331	hsa-miR-4676-5p	CLIP-seq
MIRT757332	hsa-miR-4699-5p	CLIP-seq
MIRT757333	hsa-miR-4704-3p	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT757335	hsa-miR-4716-5p	CLIP-seq
MIRT757336	hsa-miR-4717-3p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT757339	hsa-miR-4735-5p	CLIP-seq
MIRT757340	hsa-miR-4740-3p	CLIP-seq
MIRT757341	hsa-miR-4745-3p	CLIP-seq
MIRT757342	hsa-miR-4772-3p	CLIP-seq
MIRT757343	hsa-miR-4775	CLIP-seq
MIRT757344	hsa-miR-4797-5p	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT757346	hsa-miR-5095	CLIP-seq
MIRT757347	hsa-miR-5096	CLIP-seq
MIRT757348	hsa-miR-513a-5p	CLIP-seq
MIRT757349	hsa-miR-575	CLIP-seq
MIRT757350	hsa-miR-576-5p	CLIP-seq
MIRT757351	hsa-miR-590-3p	CLIP-seq
MIRT757352	hsa-miR-675	CLIP-seq
MIRT757353	hsa-miR-720	CLIP-seq
MIRT757354	hsa-miR-767-3p	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq
MIRT757356	hsa-miR-944	CLIP-seq
MIRT757295	hsa-miR-1193	CLIP-seq
MIRT1545014	hsa-miR-2052	CLIP-seq
MIRT757305	hsa-miR-2392	CLIP-seq
MIRT757331	hsa-miR-4676-5p	CLIP-seq
MIRT757349	hsa-miR-575	CLIP-seq
MIRT1923373	hsa-miR-1182	CLIP-seq
MIRT757295	hsa-miR-1193	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT757297	hsa-miR-1227	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT1923374	hsa-miR-1976	CLIP-seq
MIRT1545014	hsa-miR-2052	CLIP-seq
MIRT1923375	hsa-miR-2115	CLIP-seq
MIRT757305	hsa-miR-2392	CLIP-seq
MIRT1923376	hsa-miR-3117-5p	CLIP-seq
MIRT757308	hsa-miR-3135b	CLIP-seq
MIRT757309	hsa-miR-3136-3p	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757313	hsa-miR-3199	CLIP-seq
MIRT757314	hsa-miR-328	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT1923377	hsa-miR-3660	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT757324	hsa-miR-4438	CLIP-seq
MIRT757325	hsa-miR-4466	CLIP-seq
MIRT1923378	hsa-miR-4526	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT757331	hsa-miR-4676-5p	CLIP-seq
MIRT1923379	hsa-miR-4691-5p	CLIP-seq
MIRT1923380	hsa-miR-4695-3p	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT757340	hsa-miR-4740-3p	CLIP-seq
MIRT757342	hsa-miR-4772-3p	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT757346	hsa-miR-5095	CLIP-seq
MIRT1923381	hsa-miR-516a-3p	CLIP-seq
MIRT1923382	hsa-miR-564	CLIP-seq
MIRT757349	hsa-miR-575	CLIP-seq
MIRT757352	hsa-miR-675	CLIP-seq
MIRT1923383	hsa-miR-766	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq
MIRT2164817	hsa-miR-103b	CLIP-seq
MIRT757295	hsa-miR-1193	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT2164818	hsa-miR-1224-3p	CLIP-seq
MIRT2164819	hsa-miR-1260	CLIP-seq
MIRT2164820	hsa-miR-1260b	CLIP-seq
MIRT2164821	hsa-miR-1280	CLIP-seq
MIRT2164822	hsa-miR-150	CLIP-seq
MIRT2164823	hsa-miR-188-3p	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT757303	hsa-miR-197	CLIP-seq
MIRT757305	hsa-miR-2392	CLIP-seq
MIRT757308	hsa-miR-3135b	CLIP-seq
MIRT757309	hsa-miR-3136-3p	CLIP-seq
MIRT2164824	hsa-miR-3156-3p	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757313	hsa-miR-3199	CLIP-seq
MIRT757314	hsa-miR-328	CLIP-seq
MIRT2164825	hsa-miR-361-3p	CLIP-seq
MIRT2164826	hsa-miR-3649	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT2164827	hsa-miR-3925-3p	CLIP-seq
MIRT757319	hsa-miR-3944-5p	CLIP-seq
MIRT2164828	hsa-miR-4256	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT757324	hsa-miR-4438	CLIP-seq
MIRT2164829	hsa-miR-4446-5p	CLIP-seq
MIRT2164830	hsa-miR-4452	CLIP-seq
MIRT757325	hsa-miR-4466	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT757333	hsa-miR-4704-3p	CLIP-seq
MIRT757335	hsa-miR-4716-5p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT757340	hsa-miR-4740-3p	CLIP-seq
MIRT2164831	hsa-miR-4761-5p	CLIP-seq
MIRT757342	hsa-miR-4772-3p	CLIP-seq
MIRT757344	hsa-miR-4797-5p	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT757346	hsa-miR-5095	CLIP-seq
MIRT757347	hsa-miR-5096	CLIP-seq
MIRT2164832	hsa-miR-520g	CLIP-seq
MIRT2164833	hsa-miR-520h	CLIP-seq
MIRT2164834	hsa-miR-562	CLIP-seq
MIRT757352	hsa-miR-675	CLIP-seq
MIRT757353	hsa-miR-720	CLIP-seq
MIRT1923383	hsa-miR-766	CLIP-seq
MIRT2383722	hsa-miR-1	CLIP-seq
MIRT2164817	hsa-miR-103b	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT2383723	hsa-miR-206	CLIP-seq
MIRT2383724	hsa-miR-3155	CLIP-seq
MIRT2383725	hsa-miR-3155b	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT2383726	hsa-miR-3673	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT2383727	hsa-miR-4687-3p	CLIP-seq
MIRT2383728	hsa-miR-613	CLIP-seq
MIRT2383729	hsa-miR-642a	CLIP-seq
MIRT2383730	hsa-miR-647	CLIP-seq
MIRT757298	hsa-miR-1273f	CLIP-seq
MIRT757299	hsa-miR-129-5p	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT757310	hsa-miR-3149	CLIP-seq
MIRT757311	hsa-miR-3170	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757320	hsa-miR-411	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT757339	hsa-miR-4735-5p	CLIP-seq
MIRT757343	hsa-miR-4775	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT757351	hsa-miR-590-3p	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq
MIRT757298	hsa-miR-1273f	CLIP-seq
MIRT757299	hsa-miR-129-5p	CLIP-seq
MIRT757310	hsa-miR-3149	CLIP-seq
MIRT757311	hsa-miR-3170	CLIP-seq
MIRT757320	hsa-miR-411	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT757339	hsa-miR-4735-5p	CLIP-seq
MIRT757343	hsa-miR-4775	CLIP-seq
MIRT757351	hsa-miR-590-3p	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT757297	hsa-miR-1227	CLIP-seq
MIRT757298	hsa-miR-1273f	CLIP-seq
MIRT757299	hsa-miR-129-5p	CLIP-seq
MIRT757301	hsa-miR-1538	CLIP-seq
MIRT2466611	hsa-miR-1913	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT2466612	hsa-miR-193a-3p	CLIP-seq
MIRT2466613	hsa-miR-193b	CLIP-seq
MIRT757303	hsa-miR-197	CLIP-seq
MIRT757308	hsa-miR-3135b	CLIP-seq
MIRT757309	hsa-miR-3136-3p	CLIP-seq
MIRT757310	hsa-miR-3149	CLIP-seq
MIRT757311	hsa-miR-3170	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757313	hsa-miR-3199	CLIP-seq
MIRT2466614	hsa-miR-324-3p	CLIP-seq
MIRT757314	hsa-miR-328	CLIP-seq
MIRT2466615	hsa-miR-33a	CLIP-seq
MIRT2466616	hsa-miR-33b	CLIP-seq
MIRT2466617	hsa-miR-3622a-3p	CLIP-seq
MIRT2466618	hsa-miR-3622b-3p	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT2164827	hsa-miR-3925-3p	CLIP-seq
MIRT757320	hsa-miR-411	CLIP-seq
MIRT2466619	hsa-miR-4267	CLIP-seq
MIRT2466620	hsa-miR-4293	CLIP-seq
MIRT757322	hsa-miR-4426	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT757324	hsa-miR-4438	CLIP-seq
MIRT757325	hsa-miR-4466	CLIP-seq
MIRT757326	hsa-miR-4647	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT757330	hsa-miR-4662b	CLIP-seq
MIRT757332	hsa-miR-4699-5p	CLIP-seq
MIRT2466621	hsa-miR-4701-5p	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT2466622	hsa-miR-4725-5p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT2466623	hsa-miR-4733-5p	CLIP-seq
MIRT757339	hsa-miR-4735-5p	CLIP-seq
MIRT757340	hsa-miR-4740-3p	CLIP-seq
MIRT757341	hsa-miR-4745-3p	CLIP-seq
MIRT2466624	hsa-miR-4749-3p	CLIP-seq
MIRT2466625	hsa-miR-4757-5p	CLIP-seq
MIRT757342	hsa-miR-4772-3p	CLIP-seq
MIRT757343	hsa-miR-4775	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT2466626	hsa-miR-504	CLIP-seq
MIRT757346	hsa-miR-5095	CLIP-seq
MIRT757347	hsa-miR-5096	CLIP-seq
MIRT1923382	hsa-miR-564	CLIP-seq
MIRT2466627	hsa-miR-588	CLIP-seq
MIRT757351	hsa-miR-590-3p	CLIP-seq
MIRT757352	hsa-miR-675	CLIP-seq
MIRT1923383	hsa-miR-766	CLIP-seq
MIRT757354	hsa-miR-767-3p	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq
MIRT757296	hsa-miR-122	CLIP-seq
MIRT757297	hsa-miR-1227	CLIP-seq
MIRT757298	hsa-miR-1273f	CLIP-seq
MIRT757299	hsa-miR-129-5p	CLIP-seq
MIRT2466611	hsa-miR-1913	CLIP-seq
MIRT757302	hsa-miR-1915	CLIP-seq
MIRT2466612	hsa-miR-193a-3p	CLIP-seq
MIRT2466613	hsa-miR-193b	CLIP-seq
MIRT757303	hsa-miR-197	CLIP-seq
MIRT757308	hsa-miR-3135b	CLIP-seq
MIRT757309	hsa-miR-3136-3p	CLIP-seq
MIRT757310	hsa-miR-3149	CLIP-seq
MIRT757311	hsa-miR-3170	CLIP-seq
MIRT757312	hsa-miR-3182	CLIP-seq
MIRT757313	hsa-miR-3199	CLIP-seq
MIRT2466614	hsa-miR-324-3p	CLIP-seq
MIRT757314	hsa-miR-328	CLIP-seq
MIRT2466615	hsa-miR-33a	CLIP-seq
MIRT2466616	hsa-miR-33b	CLIP-seq
MIRT2466617	hsa-miR-3622a-3p	CLIP-seq
MIRT2466618	hsa-miR-3622b-3p	CLIP-seq
MIRT757315	hsa-miR-3652	CLIP-seq
MIRT2164827	hsa-miR-3925-3p	CLIP-seq
MIRT757320	hsa-miR-411	CLIP-seq
MIRT2466619	hsa-miR-4267	CLIP-seq
MIRT2466620	hsa-miR-4293	CLIP-seq
MIRT757323	hsa-miR-4430	CLIP-seq
MIRT757324	hsa-miR-4438	CLIP-seq
MIRT757325	hsa-miR-4466	CLIP-seq
MIRT757327	hsa-miR-4659a-3p	CLIP-seq
MIRT757328	hsa-miR-4659b-3p	CLIP-seq
MIRT2383727	hsa-miR-4687-3p	CLIP-seq
MIRT2466621	hsa-miR-4701-5p	CLIP-seq
MIRT757334	hsa-miR-4715-3p	CLIP-seq
MIRT757335	hsa-miR-4716-5p	CLIP-seq
MIRT2466622	hsa-miR-4725-5p	CLIP-seq
MIRT757337	hsa-miR-4726-3p	CLIP-seq
MIRT757338	hsa-miR-4727-5p	CLIP-seq
MIRT2466623	hsa-miR-4733-5p	CLIP-seq
MIRT757339	hsa-miR-4735-5p	CLIP-seq
MIRT757340	hsa-miR-4740-3p	CLIP-seq
MIRT2466624	hsa-miR-4749-3p	CLIP-seq
MIRT2466625	hsa-miR-4757-5p	CLIP-seq
MIRT757342	hsa-miR-4772-3p	CLIP-seq
MIRT757343	hsa-miR-4775	CLIP-seq
MIRT757345	hsa-miR-498	CLIP-seq
MIRT2466626	hsa-miR-504	CLIP-seq
MIRT757346	hsa-miR-5095	CLIP-seq
MIRT757347	hsa-miR-5096	CLIP-seq
MIRT2466627	hsa-miR-588	CLIP-seq
MIRT757351	hsa-miR-590-3p	CLIP-seq
MIRT2383730	hsa-miR-647	CLIP-seq
MIRT757352	hsa-miR-675	CLIP-seq
MIRT1923383	hsa-miR-766	CLIP-seq
MIRT757354	hsa-miR-767-3p	CLIP-seq
MIRT757355	hsa-miR-941	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002161	Function	Aminoacyl-tRNA deacylase activity	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004813	Function	Alanine-tRNA ligase activity	IBA
GO:0004813	Function	Alanine-tRNA ligase activity	IEA
GO:0004813	Function	Alanine-tRNA ligase activity	IMP	21549344
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	21549344
GO:0005739	Component	Mitochondrion	IEA
GO:0006412	Process	Translation	IEA
GO:0006419	Process	Alanyl-tRNA aminoacylation	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0043039	Process	TRNA aminoacylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070143	Process	Mitochondrial alanyl-tRNA aminoacylation	IBA
GO:0070143	Process	Mitochondrial alanyl-tRNA aminoacylation	IMP	21549344
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA
GO:0140896	Process	CGAS/STING signaling pathway	IDA	30842659, 30842662, 32911482, 32912999
GO:0141207	Function	Peptide lactyltransferase (ATP-dependent) activity	IDA	39322678
GO:0141207	Function	Peptide lactyltransferase (ATP-dependent) activity	IEA
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IDA	39322678
GO:0160049	Process	Negative regulation of cGAS/STING signaling pathway	IEA

MIM	HGNC	e!Ensembl
612035	21022	ENSG00000124608

Q5JTZ9

Protein name

Alanine--tRNA ligase, mitochondrial (EC 6.1.1.7) (Alanyl-tRNA synthetase) (AlaRS) (Protein lactyltransferase AARS2) (EC 6.-.-.-)

Protein function

Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (Pu

PDB

6NLQ , 6NLY , 6NOW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01411	tRNA-synt_2c	41 → 624	tRNA synthetases class II (A)	Family
PF07973	tRNA_SAD	721 → 778	Threonyl and Alanyl tRNA synthetase second additional domain	Domain

Sequence

MAASVAAAARRLRRAIRRSPAWRGLSHRPLSSEPPAAKASAVRAAFLNFFRDRHGHRLVP
SASVRPRGDPSLLFVNAGMNQFKPIFLGTVDPRSEMAGFRRVANSQKCVRAGGHHNDLED
VGRDLSHHTFFEMLGNWAFGGEYFKEEACNMAWELLTQVYGIPEERLWISYFDGDPKAGL
DPDLETRDIWLSLGVPASRVLSFGPQENFWEMGDTGPCGPCTEIHYDLAGGVGAPQLVEL
WNLVFMQHNREADGSLQPLPQRHVDTGMGLERLVAVLQGKHSTYDTDLFSPLLNAIQQGC
RAPPYLGRVGVADEGRTDTAYRVVADHIRTLSVCISDGIFPGMSGPPLVLRRILRRAVRF
SMEILKAPPGFLGSLVPVVVETLGDAYPELQRNSAQIANLVSEDEAAFLASLERGRRIID
RTLRTLGPSDMFPAEVAWSLSLCGDLGLPLDMVELMLEEKGVQLDSAGLERLAQEEAQHR
ARQAEPVQKQGLWLDVHALGELQRQGVPPTDDSPKYNYSLRPSGSYEFGTCEAQVLQLYT
EDGTAVASVGKGQRCGLLLDRTNFYAEQGGQASDRGYLVRAGQEDVLFPVARAQVCGGFI
LHEAVAPECLRLGDQVQLHVDEAWRLGCMAKHTATHLLNWALRQTLGPGTEQQGSHLNPE
QLRLDVTTQTPLTPEQLRAVENTVQEAVGQDEAVYMEEVPLALTAQVPGLRSLDEVYPDP
VRVVSVGVPVAHALDPASQAALQTSVELCCGTHLLRTGAVGDLVIIGDRQLSKGTTRLLA
VTGEQAQQARELGQSLAQEVKAATERLSLGSRDVAEALRLSKDIGRLIEAVETAVMPQWQ
RRELLATVKMLQRRANTAIRKLQMGQAAKKTQELLERHSKGPLIVDTVSAESLSVLVKVV
RQLCEQAPSTSVLLLSPQPMGKVLCACQVAQGAMPTFTAEAWALAVCSHMGGKAWGSRVV
AQGTGSTTDLEAALSIAQTYALSQL

Sequence length

985

Interactions

View interactions

	KEGG
	Aminoacyl-tRNA biosynthesis

359

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AARS2-related disorder	Likely pathogenic; Pathogenic	rs761923538, rs2534732785, rs768351915, rs747313011, rs1785953131, rs138119149	RCV002308701 RCV002470115 RCV004767209 RCV003331878 RCV004552494 RCV005406759
Adrenocortical carcinoma, hereditary	Likely pathogenic	rs768351915	RCV005895480
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs200105202, rs758814921	RCV005404379 RCV005405117
Combined oxidative phosphorylation defect type 8	Pathogenic; Likely pathogenic	rs2153356880, rs760920084, rs1186074948, rs1561943859, rs1363451641, rs587777589, rs587777591, rs2153356902, rs2153353848, rs767748655, rs200105202, rs779332260, rs138119149, rs387907061, rs1554147776 View all (7 more)	RCV001374723 RCV001374722 RCV002246485 RCV005361722 RCV005232602 RCV000132552 RCV000578231 RCV002248952 RCV002249210 RCV002249212 RCV001195936 RCV004796776 RCV000023929 RCV000023930 RCV000578348 RCV001332350 RCV000761537 RCV004796307 RCV000995472 RCV001095677 RCV001195935 RCV001197420
Generalized muscle weakness	Likely pathogenic; Pathogenic	rs200105202	RCV001775096
Leukoencephalopathy, progressive, with ovarian failure	Likely pathogenic; Pathogenic	rs1296069449, rs773257559, rs1561943859, rs749666514, rs587777590, rs587777591, rs780686559, rs774607571, rs200105202, rs779332260, rs759069299, rs1266991544, rs759299855, rs138119149, rs1554148927, rs1561941287, rs749701451 View all (2 more)	RCV001645021 RCV001645022 RCV005361722 RCV003322703 RCV000132553 RCV000132554 RCV002273164 RCV002286495 RCV001808557 RCV004796776 RCV003321455 RCV003321456 RCV003340903 RCV004760340 RCV002289948 RCV004796307 RCV001262436
Mitochondrial disease	Likely pathogenic; Pathogenic	rs138119149	RCV005249997
Pulmonary hypoplasia	Pathogenic; Likely pathogenic	rs587777589, rs138119149	RCV000754864 RCV000754863

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs75506489, rs78525157, rs74950428, rs1056093	RCV005890508 RCV005890518 RCV005899107 RCV005899106
Cervical cancer	Benign; Likely benign	rs75506489, rs78525157, rs77287454	RCV005890509 RCV005890520 RCV005905437
Cholangiocarcinoma	Benign	rs111524510	RCV005904040
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs74950428	RCV005899117
Clear cell carcinoma of kidney	Benign; Likely benign	rs35783144, rs75506489, rs78525157	RCV005890504 RCV005890510 RCV005890522
Colon adenocarcinoma	Benign; Likely benign	rs35783144, rs78525157	RCV005890503 RCV005890517
Combined oxidative phosphorylation deficiency	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs766302064, rs35562884, rs112521684, rs146512155, rs144914586, rs34687863, rs201274623, rs112092257, rs111990690	RCV000400266 RCV000303100 RCV000272585 RCV000298603 RCV000359416 RCV000295468 RCV000399439 RCV000275062 RCV000330105
Familial cancer of breast	Benign; Likely benign	rs78525157, rs144914586	RCV005890516 RCV005869387
Familial pancreatic carcinoma	Benign; Likely benign	rs144914586, rs74950428	RCV005869389 RCV005899112
Gastric cancer	Benign; Likely benign	rs78525157, rs144914586	RCV005890523 RCV005869390
Hepatocellular carcinoma	Benign	rs324137, rs74950428, rs325006	RCV005918252 RCV005899108 RCV005905775
Iron accumulation in brain	Uncertain significance	rs545566267	RCV001003960
Lung cancer	Benign	rs75506489	RCV005890514
Lymphoma	Uncertain significance; Benign	rs368473952, rs74950428	RCV005925512 RCV005899114
Malignant lymphoma, large B-cell, diffuse	Uncertain significance; Benign	rs143703625, rs74950428, rs325006	RCV005928382 RCV005899113 RCV005905776
Malignant tumor of esophagus	Benign; Likely benign	rs144914586	RCV005869388
Melanoma	Benign; Likely benign	rs78525157, rs761550766	RCV005890525 RCV005923932
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs78525157, rs74950428	RCV005890519 RCV005899109
Ovarian cancer	Benign; Likely benign	rs78525157, rs74950428	RCV005890521 RCV005899110
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs75506489, rs78525157	RCV005890512 RCV005890524
Sarcoma	Benign	rs35783144, rs75506489, rs111524510	RCV005890505 RCV005890511 RCV005904039
See cases	Uncertain significance	rs2534645246, rs780964802	RCV003233006 RCV003233007
Thymoma	Benign	rs74950428	RCV005899116
Thyroid cancer, nonmedullary, 1	Benign	rs35783144, rs75506489	RCV005890506 RCV005890513
Uterine carcinosarcoma	Benign	rs74950428	RCV005899115
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35783144, rs75506489, rs78525157, rs111524510	RCV005890507 RCV005890515 RCV005890526 RCV005904041
Uveal melanoma	Benign	rs74950428	RCV005899111

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	30706699
Ataxia	Associate	24808023
Brain Diseases	Associate	24808023, 29440775, 30706699
Carcinoma Hepatocellular	Associate	37990642
Cardiomyopathies	Associate	21549344, 24808023, 25058219, 28820624, 29440775, 30285085, 30819764, 35676634, 35975211
Cerebellar Ataxia	Associate	30706699
Cerebellar Diseases	Associate	24808023
Cognition Disorders	Associate	24808023
Colorectal Neoplasms	Associate	36299603
Gait Apraxia	Associate	35975211
Leukodystrophy Metachromatic	Associate	24808023, 27251004, 28820624, 31106991, 31280959, 35975211
Leukoencephalopathies	Associate	24808023, 28334938, 30706699, 30819764, 35676634, 35975211
Lung agenesis	Associate	30819764
Lung Diseases	Associate	35975211
MERRF Syndrome	Associate	30706699
Mitochondrial Diseases	Associate	21549344, 30285085, 31280959, 34088003
Mitochondrial Encephalomyopathies	Associate	30706699
Mitochondrial encephalopathy	Associate	35975211
Muscle Spasticity	Associate	24808023
Muscular Diseases	Associate	30706699, 35975211
Neoplasms	Associate	37990642
Nervous System Diseases	Associate	24808023
Optic Atrophy	Associate	28820624
Ovarian Dysgenesis 2	Associate	24808023, 27251004, 28820624, 35676634
Perinatal Death	Associate	21549344
Primary Ovarian Insufficiency	Associate	30819764, 31280959, 35975211
Vision Disorders	Associate	28820624

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)