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	23438
Gene name	Histidyl-tRNA synthetase 2, mitochondrial
Gene symbol	HARS2
Synonyms (NCBI Gene)	HARSLHARSRHO3HisRSPRLTS2
Chromosome	5
Chromosome location	5q31.3
Summary	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-tran

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61736946	G>C	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs140540222	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs200089613	G>A,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs376177973	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515410	C>G	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs754069818	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs778499309	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs863224040	G>A	Pathogenic	Splice donor variant
rs973137103	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1432653451	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs1581550832	T>GTATCCCTAGTATTTCTACTA	Likely-pathogenic	Inframe insertion, coding sequence variant, stop gained

240

Show/Hide all (240)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001459	hsa-miR-16-5p	pSILAC	18668040
MIRT001459	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT042251	hsa-miR-484	CLASH	23622248
MIRT1040804	hsa-miR-1225-5p	CLIP-seq
MIRT1040805	hsa-miR-1276	CLIP-seq
MIRT1040806	hsa-miR-1283	CLIP-seq
MIRT1040807	hsa-miR-15a	CLIP-seq
MIRT1040808	hsa-miR-15b	CLIP-seq
MIRT1040809	hsa-miR-16	CLIP-seq
MIRT1040810	hsa-miR-195	CLIP-seq
MIRT1040811	hsa-miR-2278	CLIP-seq
MIRT1040812	hsa-miR-3125	CLIP-seq
MIRT1040813	hsa-miR-3168	CLIP-seq
MIRT1040814	hsa-miR-3180-5p	CLIP-seq
MIRT1040815	hsa-miR-3611	CLIP-seq
MIRT1040816	hsa-miR-3916	CLIP-seq
MIRT1040817	hsa-miR-424	CLIP-seq
MIRT1040818	hsa-miR-4269	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT1040821	hsa-miR-4496	CLIP-seq
MIRT1040822	hsa-miR-4514	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT1040825	hsa-miR-4692	CLIP-seq
MIRT1040826	hsa-miR-4742-5p	CLIP-seq
MIRT1040827	hsa-miR-4762-5p	CLIP-seq
MIRT1040828	hsa-miR-4769-3p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT1040830	hsa-miR-497	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040834	hsa-miR-520a-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040836	hsa-miR-520d-5p	CLIP-seq
MIRT1040837	hsa-miR-524-5p	CLIP-seq
MIRT1040838	hsa-miR-525-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT1040841	hsa-miR-922	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2008523	hsa-miR-1183	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2008529	hsa-miR-3688-3p	CLIP-seq
MIRT2008530	hsa-miR-3908	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT1040806	hsa-miR-1283	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2240986	hsa-miR-183	CLIP-seq
MIRT1040811	hsa-miR-2278	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT1040812	hsa-miR-3125	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT1040813	hsa-miR-3168	CLIP-seq
MIRT1040814	hsa-miR-3180-5p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2008529	hsa-miR-3688-3p	CLIP-seq
MIRT1040816	hsa-miR-3916	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT1040821	hsa-miR-4496	CLIP-seq
MIRT2240989	hsa-miR-4519	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT1040829	hsa-miR-4777-5p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2240991	hsa-miR-4799-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT1040831	hsa-miR-518d-5p	CLIP-seq
MIRT1040832	hsa-miR-519b-5p	CLIP-seq
MIRT1040833	hsa-miR-519c-5p	CLIP-seq
MIRT1040834	hsa-miR-520a-5p	CLIP-seq
MIRT1040835	hsa-miR-520c-5p	CLIP-seq
MIRT1040836	hsa-miR-520d-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT1040837	hsa-miR-524-5p	CLIP-seq
MIRT1040838	hsa-miR-525-5p	CLIP-seq
MIRT1040839	hsa-miR-526a	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2240994	hsa-miR-564	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT1040840	hsa-miR-877	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2544481	hsa-miR-1226	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2544482	hsa-miR-1324	CLIP-seq
MIRT2544483	hsa-miR-1343	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2544484	hsa-miR-197	CLIP-seq
MIRT2544485	hsa-miR-1972	CLIP-seq
MIRT2544486	hsa-miR-216a	CLIP-seq
MIRT2544487	hsa-miR-219-5p	CLIP-seq
MIRT2544488	hsa-miR-2355-5p	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT2544489	hsa-miR-3074-3p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2544490	hsa-miR-3138	CLIP-seq
MIRT2544491	hsa-miR-3200-3p	CLIP-seq
MIRT2544492	hsa-miR-320a	CLIP-seq
MIRT2544493	hsa-miR-320b	CLIP-seq
MIRT2544494	hsa-miR-320c	CLIP-seq
MIRT2544495	hsa-miR-320d	CLIP-seq
MIRT2544496	hsa-miR-330-3p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2544497	hsa-miR-361-5p	CLIP-seq
MIRT2544498	hsa-miR-3620	CLIP-seq
MIRT2544499	hsa-miR-3667-3p	CLIP-seq
MIRT2544500	hsa-miR-3675-3p	CLIP-seq
MIRT2544501	hsa-miR-371-5p	CLIP-seq
MIRT2544502	hsa-miR-371b-5p	CLIP-seq
MIRT2544503	hsa-miR-3909	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2544504	hsa-miR-4317	CLIP-seq
MIRT2544505	hsa-miR-4323	CLIP-seq
MIRT2544506	hsa-miR-4429	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2544507	hsa-miR-4445	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT2544508	hsa-miR-4684-5p	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT2544509	hsa-miR-4698	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT2544510	hsa-miR-4733-3p	CLIP-seq
MIRT2544511	hsa-miR-4749-3p	CLIP-seq
MIRT2544512	hsa-miR-4752	CLIP-seq
MIRT2544513	hsa-miR-4766-5p	CLIP-seq
MIRT2544514	hsa-miR-4782-3p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2544515	hsa-miR-4794	CLIP-seq
MIRT2544516	hsa-miR-4800-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT2544517	hsa-miR-508-3p	CLIP-seq
MIRT2544518	hsa-miR-515-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2544519	hsa-miR-548ae	CLIP-seq
MIRT2544520	hsa-miR-548aj	CLIP-seq
MIRT2544521	hsa-miR-548am	CLIP-seq
MIRT2544522	hsa-miR-548x	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2544523	hsa-miR-626	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2544524	hsa-miR-651	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT2544525	hsa-miR-938	CLIP-seq
MIRT2008522	hsa-miR-1182	CLIP-seq
MIRT2544481	hsa-miR-1226	CLIP-seq
MIRT2008524	hsa-miR-1266	CLIP-seq
MIRT2008525	hsa-miR-1289	CLIP-seq
MIRT2544482	hsa-miR-1324	CLIP-seq
MIRT2544483	hsa-miR-1343	CLIP-seq
MIRT2008526	hsa-miR-139-5p	CLIP-seq
MIRT2240985	hsa-miR-1827	CLIP-seq
MIRT2008527	hsa-miR-193a-5p	CLIP-seq
MIRT2544484	hsa-miR-197	CLIP-seq
MIRT2544485	hsa-miR-1972	CLIP-seq
MIRT2544486	hsa-miR-216a	CLIP-seq
MIRT2544487	hsa-miR-219-5p	CLIP-seq
MIRT2544488	hsa-miR-2355-5p	CLIP-seq
MIRT2240987	hsa-miR-298	CLIP-seq
MIRT2544489	hsa-miR-3074-3p	CLIP-seq
MIRT2008528	hsa-miR-3130-3p	CLIP-seq
MIRT2544490	hsa-miR-3138	CLIP-seq
MIRT2544491	hsa-miR-3200-3p	CLIP-seq
MIRT2544492	hsa-miR-320a	CLIP-seq
MIRT2544493	hsa-miR-320b	CLIP-seq
MIRT2544494	hsa-miR-320c	CLIP-seq
MIRT2544495	hsa-miR-320d	CLIP-seq
MIRT2544496	hsa-miR-330-3p	CLIP-seq
MIRT2240988	hsa-miR-3612	CLIP-seq
MIRT2544497	hsa-miR-361-5p	CLIP-seq
MIRT2544498	hsa-miR-3620	CLIP-seq
MIRT2544499	hsa-miR-3667-3p	CLIP-seq
MIRT2544500	hsa-miR-3675-3p	CLIP-seq
MIRT2544501	hsa-miR-371-5p	CLIP-seq
MIRT2544502	hsa-miR-371b-5p	CLIP-seq
MIRT2544503	hsa-miR-3909	CLIP-seq
MIRT1040819	hsa-miR-4277	CLIP-seq
MIRT2544504	hsa-miR-4317	CLIP-seq
MIRT2544506	hsa-miR-4429	CLIP-seq
MIRT2008531	hsa-miR-4433	CLIP-seq
MIRT2544507	hsa-miR-4445	CLIP-seq
MIRT1040820	hsa-miR-4477a	CLIP-seq
MIRT2008532	hsa-miR-4518	CLIP-seq
MIRT1040823	hsa-miR-4659a-5p	CLIP-seq
MIRT1040824	hsa-miR-4659b-5p	CLIP-seq
MIRT2544508	hsa-miR-4684-5p	CLIP-seq
MIRT2240990	hsa-miR-4695-5p	CLIP-seq
MIRT2544509	hsa-miR-4698	CLIP-seq
MIRT2008533	hsa-miR-4704-5p	CLIP-seq
MIRT2544510	hsa-miR-4733-3p	CLIP-seq
MIRT2544511	hsa-miR-4749-3p	CLIP-seq
MIRT2544512	hsa-miR-4752	CLIP-seq
MIRT2544513	hsa-miR-4766-5p	CLIP-seq
MIRT2544514	hsa-miR-4782-3p	CLIP-seq
MIRT2008534	hsa-miR-4793-3p	CLIP-seq
MIRT2544515	hsa-miR-4794	CLIP-seq
MIRT2544516	hsa-miR-4800-5p	CLIP-seq
MIRT2240992	hsa-miR-4802-5p	CLIP-seq
MIRT2544517	hsa-miR-508-3p	CLIP-seq
MIRT2544518	hsa-miR-515-5p	CLIP-seq
MIRT2240993	hsa-miR-522	CLIP-seq
MIRT2008535	hsa-miR-544	CLIP-seq
MIRT2544519	hsa-miR-548ae	CLIP-seq
MIRT2544520	hsa-miR-548aj	CLIP-seq
MIRT2544521	hsa-miR-548am	CLIP-seq
MIRT2544522	hsa-miR-548x	CLIP-seq
MIRT2008536	hsa-miR-582-5p	CLIP-seq
MIRT2544523	hsa-miR-626	CLIP-seq
MIRT2240995	hsa-miR-650	CLIP-seq
MIRT2544524	hsa-miR-651	CLIP-seq
MIRT2008537	hsa-miR-665	CLIP-seq
MIRT2240996	hsa-miR-765	CLIP-seq
MIRT2544525	hsa-miR-938	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004821	Function	Histidine-tRNA ligase activity	IBA
GO:0004821	Function	Histidine-tRNA ligase activity	IDA	21464306
GO:0004821	Function	Histidine-tRNA ligase activity	IEA
GO:0004821	Function	Histidine-tRNA ligase activity	NAS	7755634
GO:0004821	Function	Histidine-tRNA ligase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956
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	21464306
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	7755634
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006427	Process	Histidyl-tRNA aminoacylation	IBA
GO:0006427	Process	Histidyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0032543	Process	Mitochondrial translation	IBA

MIM	HGNC	e!Ensembl
600783	4817	ENSG00000112855

P49590

Protein name

Histidine--tRNA ligase, mitochondrial (EC 6.1.1.21) (Histidine--tRNA ligase-like) (Histidyl-tRNA synthetase) (HisRS)

Protein function

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13393	tRNA-synt_His	62 → 390	Histidyl-tRNA synthetase	Domain
PF03129	HGTP_anticodon	411 → 502	Anticodon binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.

Sequence

MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTP
KGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKD
QGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIA
GQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSID
KLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGL
GDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAA
GGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKN
FLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIR
SVASREEVAIKRENFVAEIQKRLSES

Sequence length

506

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Likely pathogenic; Pathogenic	rs376181876	RCV005928318
Perrault syndrome	Likely pathogenic; Pathogenic	rs376177973, rs397515410	RCV002517027 RCV002513308
Perrault syndrome 2	Likely pathogenic; Pathogenic	rs2149852789, rs748402163, rs376181876, rs376177973, rs563477361, rs397515410, rs1562047621, rs754069818, rs778499309, rs1229581230	RCV001822945 RCV001822946 RCV004808536 RCV000206915 RCV003156714 RCV000032820 RCV000782170 RCV000782172 RCV000782171 RCV001261943
Sensorineural hearing loss disorder	Likely pathogenic	rs1581536078, rs1581550832	RCV000853541 RCV000853539

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HARS2-related disorder	Likely benign; Benign; Uncertain significance	rs202077661, rs143687204, rs61736946, rs553101135, rs2481363838, rs577099650, rs369880298, rs562743285, rs1432653451, rs181809358	RCV004756274 RCV003935192 RCV003955189 RCV003921373 RCV003896860 RCV003956776 RCV003971776 RCV003980176 RCV003413579 RCV003897992

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Deafness	Associate	31819004, 33228777
Genetic Diseases Inborn	Associate	28178980
Glioblastoma	Associate	26264438
Gonadal dysgenesis XX type deafness	Associate	23541340, 26657938, 27087618, 31827252, 33228777
Hearing Loss	Associate	31827252
Hearing Loss Sensorineural	Associate	31827252, 33228777
Lung Diseases Interstitial	Associate	17665459
Mitochondrial Diseases	Associate	31819004
Ovarian Diseases	Associate	33228777
Pathological Conditions Anatomical	Associate	31827252
Peripheral Nervous System Diseases	Associate	31827252
Primary Ovarian Insufficiency	Associate	31827252
Respiratory Insufficiency	Associate	31819004

HARS2 (histidyl-tRNA synthetase 2, mitochondrial)