YARS2 - tyrosyl-tRNA synthetase 2 Gene

Also Known as TYRRS; CGI-04; MLASA2; MT-TYRRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51067

About YARS2

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,746,544-32,755,897 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.0), endometrium (RPKM 8.1) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

YARS2 Products (1)

mRNA	Protein	Name
NM_001040436.3	NP_001035526.1	tyrosine--tRNA ligase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables L-tyrosine binding	IDA IDA: Inferred from direct assay	17997975	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	15779907	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	20598274	GOA
enables tyrosine-tRNA ligase activity	IDA IDA: Inferred from direct assay	15779907	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial tyrosyl-tRNA aminoacylation	IMP IMP: Inferred from mutant phenotype	20598274	GOA
involved in tRNA aminoacylation	IDA IDA: Inferred from direct assay	15779907	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	30006346	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

YARS2 Protein Structure

tRNA-synt_1b

0
100
200
300
400
477 a.a.

Protein Preferred Names	Protein Names
tyrosine--tRNA ligase, mitochondrial	tyrosine tRNA ligase 2, mitochondrial

YARS2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	YARS2	Q9Y2Z4	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	YARS2	Q9Y2Z4	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Prey Pooling	32296183
Intra	YARS2	Q9Y2Z4	AGTRAP	Homo sapiens	Q6RW13-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	MLASA2 Myopathy With Lactic Acidosis And Sideroblastic Anemia 2 Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Mitochondrial Myopathy And Sideroblastic Anemia MLASA1 Mlasa Myopathy, Lactic Acidosis And Sideroblastic Anemia Myopathy With Lactic Acidosis And Sideroblastic Anemia Sideroblastic Anemia And Mitochondrial Myopathy Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3	MLASA3
Myopathy	Muscular Diseases Myopathies
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
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
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
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 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Arboleda-Tham Syndrome	Kat6a Syndrome Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome ARTHS Mrd32 Mental Retardation, Autosomal Dominant 32, Formerly Mrd32, Formerly Autosomal Dominant Mental Retardation 32 Autosomal Dominant Non-Syndromic Intellectual Disability 32 Arboleda-Tham
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Combined Oxidative Phosphorylation Deficiency 12	COXPD12 Ltbl Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome Combined Oxidative Phosphorylation Defect Type 12 Combined Oxidative Phosphorylation Deficiency, Type 12
Armfield Syndrome	X-Linked Intellectual Disability, Armfield Type Armfield X-Linked Mental Retardation Syndrome Mental Retardation Syndrome, X-Linked, Armfield Type Mrxsa Syndromic X-Linked Mental Retardation Armfield Type
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
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Combined Oxidative Phosphorylation Deficiency 20	COXPD20 Combined Oxidative Phosphorylation Defect Type 20 Oxidative Phosphorylation Deficiency, Combined, Type 20
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
Pontocerebellar Hypoplasia, Type 6	Pontocerebellar Hypoplasia Type 6 PCH6 Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects Pontocerebellar Hypoplasia 6 Hypoplasia, Pontocerebellar, Type 6
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Spastic Ataxia	Spax Ataxia, Spastic
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15914	YARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22925	Yars2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	YARS2	VGNC	VGNC:79424
Bos taurus	YARS2	VGNC	VGNC:37016
Canis familiaris	YARS2	VGNC	VGNC:48479
Mus musculus	YARS2	MGD	MGI:1917370
Rattus norvegicus	YARS2	RGD	RGD:1311696
Felis catus	YARS2	VGNC	VGNC:67130
Others	YARS2	NCBI