Seroatlas · Human Serome Atlas

DARS2

Aspartate--tRNA ligase, mitochondrial

Also known as: FLJ10514, mtAspRS, SYDM_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6PI48
Gene
DARS2
Ensembl
ENSG00000117593
Chromosome
1
Canonical length
645 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

645 residues, UniProt reviewed canonical sequence.

>Q6PI48|DARS2
     1  MYFPSWLSQL YRGLSRPIRR TTQPIWGSLY RSLLQSSQRR IPEFSSFVVR TNTCGELRSS
    61  HLGQEVTLCG WIQYRRQNTF LVLRDFDGLV QVIIPQDESA ASVKKILCEA PVESVVQVSG
   121  TVISRPAGQE NPKMPTGEIE IKVKTAELLN ACKKLPFEIK NFVKKTEALR LQYRYLDLRS
   181  FQMQYNLRLR SQMVMKMREY LCNLHGFVDI ETPTLFKRTP GGAKEFLVPS REPGKFYSLP
   241  QSPQQFKQLL MVGGLDRYFQ VARCYRDEGS RPDRQPEFTQ IDIEMSFVDQ TGIQSLIEGL
   301  LQYSWPNDKD PVVVPFPTMT FAEVLATYGT DKPDTRFGMK IIDISDVFRN TEIGFLQDAL
   361  SKPHGTVKAI CIPEGAKYLK RKDIESIRNF AADHFNQEIL PVFLNANRNW NSPVANFIME
   421  SQRLELIRLM ETQEEDVVLL TAGEHNKACS LLGKLRLECA DLLETRGVVL RDPTLFSFLW
   481  VVDFPLFLPK EENPRELESA HHPFTAPHPS DIHLLYTEPK KARSQHYDLV LNGNEIGGGS
   541  IRIHNAELQR YILATLLKED VKMLSHLLQA LDYGAPPHGG IALGLDRLIC LVTGSPSIRD
   601  VIAFPKSFRG HDLMSNTPDS VPPEELKPYH IRVSKPTDSK AERAH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DARS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 19 nTPM
  • parathyroid gland: 15 nTPM
  • rectum: 14 nTPM
  • colon: 14 nTPM
  • choroid plexus: 13 nTPM
  • liver: 13 nTPM

Single-cell type

  • epicardial cells: 143 nCPM
  • cardiomyocytes: 63 nCPM
  • adipocytes: 58 nCPM
  • epididymal basal cells: 40 nCPM
  • breast myoepithelial cells: 28 nCPM
  • migrating cytotrophoblasts: 28 nCPM

Immune cell

  • intermediate monocyte: 7 nTPM
  • myeloid DC: 6.4 nTPM
  • memory B-cell: 6 nTPM
  • MAIT T-cell: 5.4 nTPM
  • non-classical monocyte: 5 nTPM
  • naive B-cell: 4.5 nTPM

Brain region

  • choroid plexus: 22 nTPM
  • thalamus: 6.2 nTPM
  • hypothalamus: 5.6 nTPM
  • white matter: 5.4 nTPM
  • cerebellum: 5.3 nTPM
  • pons: 5.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DARS2.

Disease | AllUniProt

Conditions DARS2 is implicated in, by any mechanism.

  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) MIM:611105

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 508 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  • Charcot-Marie-Tooth disease, axonal, type 2LL
  • Inborn genetic diseases
  • Gait ataxia
  • Gait imbalance

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.92
gnomAD pLI
0
gnomAD missense Z
1.19
DepMap mean gene effect
-0.31
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DARS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DARS2 as an antibody target. Whether an autoantibody or antibody against DARS2 could matter depends on whether native DARS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DARS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DARS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DARS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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