Human Gene IARS2 (ENST00000366922.3_4) from GENCODE V47lift37
  Description: isoleucyl-tRNA synthetase 2, mitochondrial (from RefSeq NM_018060.4)
Gencode Transcript: ENST00000366922.3_4
Gencode Gene: ENSG00000067704.10_7
Transcript (Including UTRs)
   Position: hg19 chr1:220,267,474-220,321,383 Size: 53,910 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr1:220,267,559-220,320,977 Size: 53,419 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:220,267,474-220,321,383)mRNA (may differ from genome)Protein (1012 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYIM_HUMAN
DESCRIPTION: RecName: Full=Isoleucine--tRNA ligase, mitochondrial; EC=6.1.1.5; AltName: Full=Isoleucyl-tRNA synthetase; Short=IleRS; Flags: Precursor;
CATALYTIC ACTIVITY: ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).
SUBCELLULAR LOCATION: Mitochondrion matrix (By similarity).
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.
SEQUENCE CAUTION: Sequence=BAA91544.1; Type=Frameshift; Positions=879; Sequence=BAB14164.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IARS2
Diseases sorted by gene-association score: cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia* (1631), neuropathy* (429), cataract* (409), peripheral nervous system disease* (404), growth hormone deficiency (16), esophageal candidiasis (11), skeletal dysplasia (8), leigh syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.97 RPKM in Adrenal Gland
Total median expression: 1052.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -46.5085-0.547 Picture PostScript Text
3' UTR -84.20406-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001412 - aa-tRNA-synth_I_CS
IPR002300 - aa-tRNA-synth_Ia
IPR002301 - Ile-tRNA-ligase
IPR023585 - Ile-tRNA-ligase_type1
IPR014729 - Rossmann-like_a/b/a_fold
IPR009080 - tRNAsynth_1a_anticodon-bd
IPR013155 - V/L/I-tRNA-synth_anticodon-bd
IPR009008 - Val/Leu/Ile-tRNA-synth_edit
IPR010663 - Znf_DNA_glyclase/IsotRNA_synth

Pfam Domains:
PF00133 - tRNA synthetases class I (I, L, M and V)
PF06827 - Zinc finger found in FPG and IleRS
PF08264 - Anticodon-binding domain of tRNA ligase
PF09334 - tRNA synthetases class I (M)
PF13603 - Leucyl-tRNA synthetase, Domain 2

SCOP Domains:
47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
50677 - ValRS/IleRS/LeuRS editing domain
52374 - Nucleotidylyl transferase

ModBase Predicted Comparative 3D Structure on Q9NSE4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0000166 nucleotide binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004822 isoleucine-tRNA ligase activity
GO:0005524 ATP binding
GO:0016874 ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006428 isoleucyl-tRNA aminoacylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AY267462 - Homo sapiens isoleucine tRNA synthetase mRNA, complete cds; nuclear gene for mitochondrial product.
LF383669 - JP 2014500723-A/191172: Polycomb-Associated Non-Coding RNAs.
BC137438 - Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial, mRNA (cDNA clone MGC:169059 IMAGE:9021436), complete cds.
AY952883 - Homo sapiens antigen MMSA-3 mRNA sequence.
D28500 - Homo sapiens mRNA for mitochondrial isoleucine tRNA synthetase, partial cds.
AK291432 - Homo sapiens cDNA FLJ75180 complete cds, highly similar to Homo sapiens mitochondrial isoleucine tRNA synthetase, mRNA.
LF321330 - JP 2014500723-A/128833: Polycomb-Associated Non-Coding RNAs.
BC040376 - Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial, mRNA (cDNA clone IMAGE:4778897), partial cds.
LF321329 - JP 2014500723-A/128832: Polycomb-Associated Non-Coding RNAs.
BC047880 - Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial, mRNA (cDNA clone IMAGE:4444230), partial cds.
AK001188 - Homo sapiens cDNA FLJ10326 fis, clone NT2RM2000577, weakly similar to ISOLEUCYL-TRNA SYNTHETASE (EC 6.1.1.5).
LF321328 - JP 2014500723-A/128831: Polycomb-Associated Non-Coding RNAs.
LF321327 - JP 2014500723-A/128830: Polycomb-Associated Non-Coding RNAs.
LF321326 - JP 2014500723-A/128829: Polycomb-Associated Non-Coding RNAs.
LF321325 - JP 2014500723-A/128828: Polycomb-Associated Non-Coding RNAs.
BC010218 - Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial, mRNA (cDNA clone IMAGE:3449861), partial cds.
LF321324 - JP 2014500723-A/128827: Polycomb-Associated Non-Coding RNAs.
LF321323 - JP 2014500723-A/128826: Polycomb-Associated Non-Coding RNAs.
AK001726 - Homo sapiens cDNA FLJ10864 fis, clone NT2RP4001592, weakly similar to ISOLEUCYL-TRNA SYNTHETASE (EC 6.1.1.5).
CU679651 - Synthetic construct Homo sapiens gateway clone IMAGE:100020027 5' read IARS2 mRNA.
KJ902861 - Synthetic construct Homo sapiens clone ccsbBroadEn_12255 IARS2 gene, encodes complete protein.
LF321321 - JP 2014500723-A/128824: Polycomb-Associated Non-Coding RNAs.
LF321320 - JP 2014500723-A/128823: Polycomb-Associated Non-Coding RNAs.
LF321319 - JP 2014500723-A/128822: Polycomb-Associated Non-Coding RNAs.
LF321317 - JP 2014500723-A/128820: Polycomb-Associated Non-Coding RNAs.
AK022665 - Homo sapiens cDNA FLJ12603 fis, clone NT2RM4001444, weakly similar to ISOLEUCYL-TRNA SYNTHETASE (EC 6.1.1.5).
LF321316 - JP 2014500723-A/128819: Polycomb-Associated Non-Coding RNAs.
LF321315 - JP 2014500723-A/128818: Polycomb-Associated Non-Coding RNAs.
LF321314 - JP 2014500723-A/128817: Polycomb-Associated Non-Coding RNAs.
LF321312 - JP 2014500723-A/128815: Polycomb-Associated Non-Coding RNAs.
LF321311 - JP 2014500723-A/128814: Polycomb-Associated Non-Coding RNAs.
LF321310 - JP 2014500723-A/128813: Polycomb-Associated Non-Coding RNAs.
LF321309 - JP 2014500723-A/128812: Polycomb-Associated Non-Coding RNAs.
LF321308 - JP 2014500723-A/128811: Polycomb-Associated Non-Coding RNAs.
LF321307 - JP 2014500723-A/128810: Polycomb-Associated Non-Coding RNAs.
LF321306 - JP 2014500723-A/128809: Polycomb-Associated Non-Coding RNAs.
JD043518 - Sequence 24542 from Patent EP1572962.
LF321305 - JP 2014500723-A/128808: Polycomb-Associated Non-Coding RNAs.
JD358051 - Sequence 339075 from Patent EP1572962.
JD143728 - Sequence 124752 from Patent EP1572962.
LF321304 - JP 2014500723-A/128807: Polycomb-Associated Non-Coding RNAs.
JD254169 - Sequence 235193 from Patent EP1572962.
JD349732 - Sequence 330756 from Patent EP1572962.
JD073409 - Sequence 54433 from Patent EP1572962.
LF321303 - JP 2014500723-A/128806: Polycomb-Associated Non-Coding RNAs.
LF321302 - JP 2014500723-A/128805: Polycomb-Associated Non-Coding RNAs.
JD372296 - Sequence 353320 from Patent EP1572962.
JD201903 - Sequence 182927 from Patent EP1572962.
JD313487 - Sequence 294511 from Patent EP1572962.
MA619246 - JP 2018138019-A/191172: Polycomb-Associated Non-Coding RNAs.
MA556907 - JP 2018138019-A/128833: Polycomb-Associated Non-Coding RNAs.
MA556906 - JP 2018138019-A/128832: Polycomb-Associated Non-Coding RNAs.
MA556905 - JP 2018138019-A/128831: Polycomb-Associated Non-Coding RNAs.
MA556904 - JP 2018138019-A/128830: Polycomb-Associated Non-Coding RNAs.
MA556903 - JP 2018138019-A/128829: Polycomb-Associated Non-Coding RNAs.
MA556902 - JP 2018138019-A/128828: Polycomb-Associated Non-Coding RNAs.
MA556901 - JP 2018138019-A/128827: Polycomb-Associated Non-Coding RNAs.
MA556900 - JP 2018138019-A/128826: Polycomb-Associated Non-Coding RNAs.
MA556898 - JP 2018138019-A/128824: Polycomb-Associated Non-Coding RNAs.
MA556897 - JP 2018138019-A/128823: Polycomb-Associated Non-Coding RNAs.
MA556896 - JP 2018138019-A/128822: Polycomb-Associated Non-Coding RNAs.
MA556894 - JP 2018138019-A/128820: Polycomb-Associated Non-Coding RNAs.
MA556893 - JP 2018138019-A/128819: Polycomb-Associated Non-Coding RNAs.
MA556892 - JP 2018138019-A/128818: Polycomb-Associated Non-Coding RNAs.
MA556891 - JP 2018138019-A/128817: Polycomb-Associated Non-Coding RNAs.
MA556889 - JP 2018138019-A/128815: Polycomb-Associated Non-Coding RNAs.
MA556888 - JP 2018138019-A/128814: Polycomb-Associated Non-Coding RNAs.
MA556887 - JP 2018138019-A/128813: Polycomb-Associated Non-Coding RNAs.
MA556886 - JP 2018138019-A/128812: Polycomb-Associated Non-Coding RNAs.
MA556885 - JP 2018138019-A/128811: Polycomb-Associated Non-Coding RNAs.
MA556884 - JP 2018138019-A/128810: Polycomb-Associated Non-Coding RNAs.
MA556883 - JP 2018138019-A/128809: Polycomb-Associated Non-Coding RNAs.
MA556882 - JP 2018138019-A/128808: Polycomb-Associated Non-Coding RNAs.
MA556881 - JP 2018138019-A/128807: Polycomb-Associated Non-Coding RNAs.
MA556880 - JP 2018138019-A/128806: Polycomb-Associated Non-Coding RNAs.
MA556879 - JP 2018138019-A/128805: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein Q9NSE4 (Reactome details) participates in the following event(s):

R-HSA-380176 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379726 Mitochondrial tRNA aminoacylation
R-HSA-379724 tRNA Aminoacylation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPG8, ENST00000366922.1, ENST00000366922.2, IARS2 , NM_018060, Q1M2P9, Q6PI85, Q7L439, Q86WU9, Q96D91, Q9H9Q8, Q9NSE4, Q9NW42, SYIM_HUMAN, uc318flx.1, uc318flx.2
UCSC ID: ENST00000366922.3_4
RefSeq Accession: NM_018060.4
Protein: Q9NSE4 (aka SYIM_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.