CARS2 - cysteinyl-tRNA synthetase 2, mitochondrial Gene

Also Known as cysRS; COXPD27

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79587

About CARS2

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,641,410-110,713,522 (from NCBI)

This gene has 33 transcripts (splice variants), 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 6.3), bone marrow (RPKM 6.0) and 25 other tissues.

Summary

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These Enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate Amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]

CARS2 Products (3)

mRNA Protein Name
NM_001352252.2 NP_001339181.1 probable cysteine--tRNA ligase, mitochondrial isoform 2
NM_001352253.3 NP_001339182.1 probable cysteine--tRNA ligase, mitochondrial isoform 3
NM_024537.4 NP_078813.1 probable cysteine--tRNA ligase, mitochondrial isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables cysteine-tRNA ligase activity IMP
IMP: Inferred from mutant phenotype
29079736 GOA
Biological Process GO Annotation Evidence References Source
involved in cysteinyl-tRNA aminoacylation IMP
IMP: Inferred from mutant phenotype
29079736 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
29079736 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

CARS2 Protein Structure

tRNA-synt_1e

tRNA-synt_1e: tRNA synthetases class I (C) catalytic domain (69 - 364)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 564 a.a.
Protein Preferred Names Protein Names

probable cysteine--tRNA ligase, mitochondrial

  • cysteine tRNA ligase 2, mitochondrial (putative)

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 27

  • COXPD27

  • Combined Oxidative Phosphorylation Defect Type 27
Ovarian Cancer

  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary
Verbal Auditory Agnosia
Combined Oxidative Phosphorylation Deficiency
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Cystathioninuria

  • Cystathionase Deficiency

  • Gamma-Cystathionase Deficiency

  • Cystathione Gamma-Lyase Deficiency Syndrome

  • Cystathionine Gamma-Lyase Deficiency Syndrome

  • CSTNU
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
Mitochondrial Dna Depletion Syndrome 4a

  • Alpers Syndrome

  • Alpers-Huttenlocher Syndrome

  • Alpers Progressive Infantile Poliodystrophy

  • Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

  • Alpers Disease

  • Progressive Sclerosing Poliodystrophy

  • Pndc

  • Diffuse Cerebral Sclerosis Of Schilder

  • MTDPS4A

  • Neuronal Degeneration Of Childhood With Liver Disease, Progressive

  • Alper'S Syndrome

  • Alpers' Disease Or Gray-Matter Degeneration

  • Diffuse Cerebral Degeneration In Infancy

  • Infantile Poliodystrophy

  • Poliodystrophia Cerebri Progressiva

  • Progressive Cerebral Poliodystrophy

  • Alpers' Disease

  • Alpers Progressive Sclerosing Poliodystrophy

  • Progressive Neuronal Degeneration Of Childhood With Liver Disease

  • Ahs

  • Mitochondrial Dna Depletion Syndrome 4a Alpers Type

  • Neuronal Degeneration Of Childhood With Liver Disease Progressive
Myoclonic Epilepsy Associated With Ragged-Red Fibers

  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers
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

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-D2620 CAR-2 Inducer / Phase 1

Pre-clinical Phase

Bioactive Molecules (8)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-160906 Glutathione trisulfide / Unkown
HY-183912 PY-4Car2 Inhibitor / Unkown
HY-160906A Glutathione trisulfide TFA 99.08% Unkown
HY-RS01909 Car2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS01910 Car2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS01934 CARS2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22414 Cars2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28937 Cars2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CARS2 VGNC VGNC:49547
Macaca mulatta CARS2 VGNC VGNC:70631
Mus musculus CARS2 MGD MGI:1919191
Felis catus CARS2 VGNC VGNC:102172
Rattus norvegicus CARS2 RGD RGD:1311612
Canis familiaris CARS2 VGNC VGNC:49111
Others CARS2 NCBI