AARS2 (alanyl-tRNA synthetase 2, mitochondrial)

Gene

• Entrez ID: 57505
• Gene name: Alanyl-tRNA synthetase 2, mitochondrial
• Gene symbol: AARS2
• Synonyms (NCBI Gene): AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 612035
• HGNC: 21022
• e!Ensembl: ENSG00000124608

Protein

• UniProt ID: 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

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AARS2-related disorder	Likely pathogenic; Pathogenic	rs761923538, rs2534732785, rs768351915, rs747313011, rs1785953131, rs138119149	RCV002308701 RCV002470115 RCV004767209 RCV003331878 RCV004552494 RCV005406759	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenocortical carcinoma, hereditary	Likely pathogenic	rs768351915	RCV005895480	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs200105202, rs758814921	RCV005404379 RCV005405117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation defect type 8	Pathogenic; Likely pathogenic	rs2153356880, rs760920084, rs1186074948, rs1561943859, rs1363451641, rs587777589, rs587777591, rs2153356902, rs2153353848, rs767748655, rs200105202, rs779332260, rs138119149, rs387907061, rs1554147776, rs368934219, rs1561938413, rs1561941287, rs1170907347, rs1785349774, rs1785274253, rs1786349461	RCV001374723 RCV001374722 RCV002246485 RCV005361722 RCV005232602 RCV000132552 RCV000578231 RCV002248952 RCV002249210 RCV002249212 RCV001195936 RCV004796776 RCV000023929 RCV000023930 RCV000578348 RCV001332350 RCV000761537 RCV004796307 RCV000995472 RCV001095677 RCV001195935 RCV001197420	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized muscle weakness	Likely pathogenic; Pathogenic	rs200105202	RCV001775096	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	RCV001645021 RCV001645022 RCV005361722 RCV003322703 RCV000132553 RCV000132554 RCV002273164 RCV002286495 RCV001808557 RCV004796776 RCV003321455 RCV003321456 RCV003340903 RCV004760340 RCV002289948 RCV004796307 RCV001262436	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Likely pathogenic; Pathogenic	rs138119149	RCV005249997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary hypoplasia	Pathogenic; Likely pathogenic	rs587777589, rs138119149	RCV000754864 RCV000754863	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF LUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron accumulation in brain	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISUOSPATIAL IMPAIRMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24808023	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24808023, 29440775, 30706699	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37990642	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21549344, 24808023, 25058219, 28820624, 29440775, 30285085, 30819764, 35676634, 35975211	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25058219, 28820624, 30285085		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	30706699	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29666464		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	24808023	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	20045102, 22009580		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24808023	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36299603	Associate	★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 8	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	21549344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	21549344, 25058219, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	21549344, 22277967, 25058219, 25705216, 27839525, 29440775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	21549344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	BEFREE	28820624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of lung	Pulmonary hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	30054184		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	21549344, 22277967, 24808023, 25058219		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30706699		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25817015, 28493438		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30054184		★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	28822227		★☆☆☆☆ Found in Text Mining only
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	ORPHANET_DG	27749956		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	BEFREE	30272204		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	28822227		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24808023		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	24808023, 27251004, 27734837, 28820624, 29749055, 31099476, 31106991, 31388113, 31839000		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	24808023, 27251004, 28820624, 31106991, 31280959, 35975211	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24808023, 27734837, 29666464, 29749055, 30272204, 30706699, 31099476, 31705293		★☆☆☆☆ Found in Text Mining only
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	Leukoencephalopathy, With Ovarian Failure	GENOMICS_ENGLAND_DG	24357685, 24808023		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	Leukoencephalopathy, With Ovarian Failure	UNIPROT_DG	24808023		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	Leukoencephalopathy, With Ovarian Failure	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	Leukoencephalopathy, With Ovarian Failure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35975211	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	30706699	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28493438		★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	27734837, 31388113		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	21549344, 30285085, 31280959, 34088003	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	30706699		★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	30706699	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	35975211	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	21549344		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	21549344, 22277967, 24808023, 25058219		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30706699		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28967806		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24808023	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	28820624		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	28820624	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	24808023, 27251004, 28820624, 35676634	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31280959		★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	ORPHANET_DG	24808023		★☆☆☆☆ Found in Text Mining only
Ovarioleukodystrophy	Ovarioleukodystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
OVARIOLEUKODYSTROPHY	Ovarioleukodystrophy	BEFREE	29749055, 31705293		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	22573628		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31280959		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28820624		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28820624	Associate	★☆☆☆☆ Found in Text Mining only