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HARS2
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

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  • STRUCT & INT

  • HARS2
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

HARS2
Synonyms HARSL, HARSR, HO3
Gene descriptioni

Full gene name according to HGNC.

Histidyl-tRNA synthetase 2, mitochondrial
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 5
Cytoband q31.3
Chromosome location (bp) 140691430 - 140699305
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

11
Ensembl ENSG00000112855 (version 109)
Entrez gene 23438
HGNC HGNC:4817
UniProt P49590 (UniProt - Evidence at protein level)
neXtProt NX_P49590
GeneCards HARS2
Antibodypedia HARS2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Aminoacyl-tRNA synthetase, Ligase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Protein biosynthesis
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
HARS2-201
ENSP00000230771
ENST00000230771
P49590
[Direct mapping] Histidine--tRNA ligase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006427 [histidyl-tRNA aminoacylation]
GO:0016874 [ligase activity]
GO:0042802 [identical protein binding]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
506 aa
56.9 kDa
No 0
HARS2-202
ENSP00000407105
ENST00000448069
B4DQ67
[Direct mapping] Histidine--tRNA ligase
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005737 [cytoplasm]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
334 aa
37.2 kDa
No 0
HARS2-204
ENSP00000424516
ENST00000503873
D6RB22
[Direct mapping] Histidine--tRNA ligase
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004821 [histidine-tRNA ligase activity]
GO:0005737 [cytoplasm]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
399 aa
44.5 kDa
No 0
HARS2-206
ENSP00000423616
ENST00000508522
P49590
[Direct mapping] Histidine--tRNA ligase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006427 [histidyl-tRNA aminoacylation]
GO:0016874 [ligase activity]
GO:0042802 [identical protein binding]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
481 aa
54.1 kDa
No 0
HARS2-207
ENSP00000425695
ENST00000509299
D6RJE6
[Direct mapping] Histidine--tRNA ligase, mitochondrial
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005739 [mitochondrion]
Show all
293 aa
33 kDa
No 0
HARS2-214
ENSP00000493630
ENST00000642752
A0A2R8Y3N3
[Direct mapping] Histidine--tRNA ligase
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0016874 [ligase activity]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
473 aa
53.2 kDa
No 0
HARS2-215
ENSP00000496011
ENST00000642970
A0A2R8Y6I1
[Direct mapping] Histidine--tRNA ligase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0016874 [ligase activity]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
436 aa
49.2 kDa
No 0
HARS2-216
ENSP00000495350
ENST00000643996
A0A2R8Y6I1
[Direct mapping] Histidine--tRNA ligase
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0016874 [ligase activity]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
436 aa
49.2 kDa
No 0
HARS2-217
ENSP00000493571
ENST00000645065
A0A2R8Y5P7
[Direct mapping] Histidine--tRNA ligase
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0006427 [histidyl-tRNA aminoacylation]
GO:0016874 [ligase activity]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
512 aa
57.5 kDa
No 0
HARS2-218
ENSP00000494296
ENST00000645749
P49590
[Direct mapping] Histidine--tRNA ligase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Ligase
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Congenital malformations
   Other congenital malformations
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0003723 [RNA binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0005829 [cytosol]
GO:0006412 [translation]
GO:0006418 [tRNA aminoacylation for protein translation]
GO:0006427 [histidyl-tRNA aminoacylation]
GO:0016874 [ligase activity]
GO:0042802 [identical protein binding]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
506 aa
56.9 kDa
No 0
HARS2-219
ENSP00000494965
ENST00000646468
A0A2R8Y5P7
[Direct mapping] Histidine--tRNA ligase
Show all
   Phobius predicted secreted proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Other congenital malformations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0004812 [aminoacyl-tRNA ligase activity]
GO:0004821 [histidine-tRNA ligase activity]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0006427 [histidyl-tRNA aminoacylation]
GO:0016874 [ligase activity]
GO:0044260 [cellular macromolecule metabolic process]
GO:0090304 [nucleic acid metabolic process]
Show all
512 aa
57.5 kDa
No 0

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