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DARS2

GENERAL INFORMATION

Gene name

 DARS2

Gene description

 Aspartyl-tRNA synthetase 2, mitochondrial

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA026506 , HPA026528
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DARS2 (HGNC Symbol)

Synonyms

 FLJ10514

Description

 Aspartyl-tRNA synthetase 2, mitochondrial (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 1

Cytoband

 q25.1

Chromosome location (bp)

 173824503 - 173858546

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000117593 (version 83.38)

Entrez gene

 55157

UniProt

 Q6PI48 (UniProt - Evidence at protein level)

neXtProt

 NX_Q6PI48

Antibodypedia

 DARS2 antibodies

PROTEIN BROWSER
DARS2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DARS2-001
ENSP00000355086
ENST00000361951
Q6PI48 [Direct mapping]
Aspartate--tRNA ligase, mitochondrial
A0A024R8Z9 [Target identity:100%; Query identity:100%]
Aspartyl-tRNA synthetase 2 (Mitochondrial), isoform CRA_b
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Enzymes
   ENZYME proteins
   Ligase
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000049 [tRNA binding]
GO:0000166 [nucleotide binding]
GO:0003676 [nucleic acid binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004815 [aspartate-tRNA ligase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0010467 [gene expression]
GO:0016874 [ligase activity]
GO:0042803 [protein homodimerization activity]
GO:0043039 [tRNA aminoacylation]
GO:0050560 [aspartate-tRNA(Asn) ligase activity]
GO:0070145 [mitochondrial asparaginyl-tRNA aminoacylation]
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 645 aa
73.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.