HARS2 - histidyl-tRNA synthetase 2, mitochondrial Gene

Homo sapiens

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

Gene ID: 23438 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in histidyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	21464306	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06005	HARS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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