SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

Also Known as SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54938

About SARS2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:38,915,266-38,930,763 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 190 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues.

Summary

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

SARS2 Products (2)

mRNA Protein Name
NM_001145901.2 NP_001139373.1 serine--tRNA ligase, mitochondrial isoform a precursor
NM_017827.4 NP_060297.1 serine--tRNA ligase, mitochondrial isoform b precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

SARS2 Protein Structure

tRNA-synt_2b

tRNA-synt_2b: tRNA synthetase class II core domain (G, H, P, S and T) (239 - 411)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 518 a.a.
Protein Preferred Names Protein Names

serine--tRNA ligase, mitochondrial

  • mitochondrial seryl-tRNA synthetase

Related Diseases

Diseases Alias
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
  • Hupra Syndrome

  • Alkalosis

  • HUPRAS

  • Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis

  • Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome

  • Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome

  • Alkalosis Nos

Hyperuricemia
  • Blood Urate Raized

  • Uricacidemia

Epithelioid Cell Synovial Sarcoma
  • Synovial Sarcoma, Epithelioid Cell

  • Epithelioid Synovial Sarcoma

Pulmonary Hypertension
  • Primary Pulmonary Hypertension

  • Hypertension Pulmonary

  • Hypertension, Pulmonary

  • Hypertension, Pulmonary, Primary

  • Idiopathic Pulmonary Hypertension

  • Idiopathic Pulmonary Arterial Hypertension

  • Pulmonary Htn - [Hypertension]

Septal Myocardial Infarction
Capillariasis
  • Capillaria Infection

  • Enoplida Infections

  • Capillariasis Nos

  • Capillariosis

Acute Stress Disorder
  • Traumatic Stress Disorder

  • Stress Disorders, Traumatic, Acute

  • Stress Disorders, Traumatic

Venezuelan Hemorrhagic Fever
  • Guanarito Hemorrhagic Fever

  • Vehf - [Venezuelan Haemorrhagic Fever]

Joubert Syndrome 7
  • JBTS7

  • Cerebello-Oculo-Renal Syndrome 3

  • Cors3

  • Joubert Syndrome, Type 7

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

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