SARS2 (seryl-tRNA synthetase 2, mitochondrial)

2014-11-01  

Identity

HGNC
SARS2
LOCATION
19q13.2
LOCUSID
54938
ALIAS
SARS,SARSM,SERS,SYS,SerRS,SerRSmt,mtSerRS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54938
MIM: 612804
HGNC: 17697
Ensembl: ENSG00000104835

Variants:

dbSNP: 54938
ClinVar: 54938
TCGA: ENSG00000104835
COSMIC: SARS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104835ENST00000221431Q9NP81
ENSG00000104835ENST00000430193M0QWZ7
ENSG00000104835ENST00000455102B4DJM9
ENSG00000104835ENST00000593754M0R1C0
ENSG00000104835ENST00000594171M0R259
ENSG00000104835ENST00000598343M0R2H5
ENSG00000104835ENST00000598831M0QX29
ENSG00000104835ENST00000600042Q9NP81

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
259681582015Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.7
194392092009NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells.3
161335422005Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.1

Citation

Dessen P

SARS2 (seryl-tRNA synthetase 2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72983/sars2