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.	57505
Gene name Gene Name - the full gene name approved by the HGNC.	Alanyl-tRNA synthetase 2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AARS2
Synonyms (NCBI Gene) Gene synonyms aliases	AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COXPD8, LKENP
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA	21873635
GO:0002161	Function	Aminoacyl-tRNA editing activity	IBA	21873635
GO:0004813	Function	Alanine-tRNA ligase activity	IBA	21873635
GO:0004813	Function	Alanine-tRNA ligase activity	IMP	21549344
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	21549344
GO:0006400	Process	TRNA modification	IBA	21873635
GO:0006419	Process	Alanyl-tRNA aminoacylation	IBA	21873635
GO:0008270	Function	Zinc ion binding	IEA
GO:0016597	Function	Amino acid binding	IBA	21873635
GO:0070143	Process	Mitochondrial alanyl-tRNA aminoacylation	IMP	21549344
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA

MIM	HGNC	e!Ensembl
612035	21022	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

Interactions

View interactions

	KEGG
	Aminoacyl-tRNA biosynthesis

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, Combined oxidative phosphorylation defect type 8	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517 View all (155 more)	27604308, 25058219, 29440775, 21549344, 25705216, 22277967, 27839525
Hereditary diffuse leukoencephalopathy with spheroids	Hereditary Diffuse Leukoencephalopathy with Spheroids	rs281860279, rs281860269, rs281860267, rs281860274, rs387906662, rs281860281, rs397515556, rs397515557, rs587777245, rs587777246, rs587777247, rs690016554, rs690016556, rs690016562, rs690016564 View all (3 more)	27749956
Hydrops fetalis	Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Leukoencephalopathy, with ovarian failure	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	rs138119149, rs587777590, rs587777591, rs200105202, rs1554148927	24808023, 24357685
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	24808023, 21549344, 25058219, 22277967
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Pulmonary hypoplasia	Congenital hypoplasia of lung	ClinVar
Mental depression	Depressive disorder	ClinVar
Mitochondrial Diseases	mitochondrial disease	GenCC
Ovarioleukodystrophy	ovarioleukodystrophy	GenCC
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia	hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	GenCC

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining
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)