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SARS2

Chr 19q13.2

seryl-tRNA synthetase 2, mitochondrial

Aliases:
FLJ20450, mtSerRS, SerRSmt, SARS, SERS
MANE:
ENST00000221431.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal
  • Pulmonary arterial hypertension

    BIALLELIC, autosomal or pseudoautosomal
  • Renal tubulopathies

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

    0.78
  • inborn mitochondrial metabolism disorder

    0.19
  • mitochondrial disease

    0.19
  • stricture

    0.08
  • type 2 diabetes mellitus

    0.06
  • gestational diabetes

    0.06
  • neoplasm

    0.06
  • infection

    0.05
  • COVID-19

    0.03
  • viral infectious disease

    0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine--tRNA ligase, mitochondrial

Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.