HARS2 - histidyl-tRNA synthetase 2, mitochondrial Gene

Also Known as HO3; HARSL; HARSR; HisRS; PRLTS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23438

About HARS2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,691,455-140,699,305 (from NCBI)

This gene has 20 transcripts (splice variants), 225 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 9.6), endometrium (RPKM 9.1) and 25 other tissues.

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-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

HARS2 Products (5)

mRNA	Protein	Name
NM_001278731.2	NP_001265660.1	histidine--tRNA ligase, mitochondrial isoform 2 precursor
NM_001278732.2	NP_001265661.1	histidine--tRNA ligase, mitochondrial isoform 3
NM_001363535.2	NP_001350464.1	histidine--tRNA ligase, mitochondrial isoform 4 precursor
NM_001363536.2	NP_001350465.1	histidine--tRNA ligase, mitochondrial isoform 5
NM_012208.4	NP_036340.1	histidine--tRNA ligase, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables histidine-tRNA ligase activity	IDA IDA: Inferred from direct assay	21464306	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21464306	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in histidyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	21464306	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	21464306	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HARS2 Protein Structure

tRNA-synt_His

HGTP_anticodon

0
100
200
300
400
506 a.a.

Protein Preferred Names	Protein Names
histidine--tRNA ligase, mitochondrial	HARS-related

HARS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HARS2	P49590	AGTRAP	Homo sapiens	Q6RW13	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

HARS2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81278	HARS Antibody (YA977)	WB	Human, Mouse, Monkey
HY-P81278A	HARS Antibody (YA977)(PBS only)	WB	Human, Mouse, Monkey

Related Diseases

Diseases	Alias
Perrault Syndrome 2	PRLTS2 Perrault Syndrome, Type 2
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Bagassosis	Sugar Cane Worker Pneumonitis Bagasse Workers' Lung Bagasse Disease Bagasse Disease Or Pneumonitis Bagasse Workers' Disease Fibrosis Of Lung With Bagassosis Sugar Cane Workers' Hypersensitivity Pneumonitis Bagasse Pneumonitis Hypersensitivity Pneumonitis With Bagassosis
Antisynthetase Syndrome	As Syndrome Anti-Jo1 Syndrome
Developmental And Epileptic Encephalopathy 75	DEE75 Epileptic Encephalopathy, Early Infantile, 75 Eiee75 Developmental And Epileptic Encephalopathy, 75 Early Infantile Epileptic Encephalopathy 75
Charcot-Marie-Tooth Disease, Axonal, Type 2w	CMT2W Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w Charcot-Marie-Tooth Neuropathy, Type 2w Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w Charcot-Marie-Tooth Disease, Axonal Type 2w Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w Charcot-Marie-Tooth Neuropathy Type 2w Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation Charcot-Marie-Tooth Disease 2w
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Charcot-Marie-Tooth Disease Recessive Intermediate B CMTRIB Ri-Cmtb Charcot-Marie-Tooth Disease, Recessive Intermediate, B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Neuropathy Recessive Intermediate B Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B Ri-Cmt Type B Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04031	DTD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06005	HARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19128	Dtd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20419	Hars2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26928	Hars2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HARS2	RGD	RGD:1308426
Canis familiaris	HARS2	VGNC	VGNC:41598
Felis catus	HARS2	VGNC	VGNC:102222
Macaca mulatta	HARS2	VGNC	VGNC:73346
Mus musculus	HARS2	MGD	MGI:1918041
Bos taurus	HARS2	VGNC	VGNC:29754
Others	HARS2	NCBI