1. Gene
  2. SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

SARS2 - seryl-tRNA synthetase 2, mitochondrial Gene

Homo sapiens

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

Gene ID: 54938 | Gene type: protein coding

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

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