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Aliases for IARS2 Gene

Aliases for IARS2 Gene

  • Isoleucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Isoleucine TRNA Ligase 2, Mitochondrial 2 3
  • EC 6.1.1.5 4 56
  • ILERS 3 4
  • Isoleucine-TRNA Synthetase 2, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Isoleucine TRNA Synthetase 3
  • Isoleucine--TRNA Ligase, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase 4
  • EC 6.1.1 56
  • CAGSSS 3

External Ids for IARS2 Gene

Previous GeneCards Identifiers for IARS2 Gene

  • GC01P216656
  • GC01P218334
  • GC01P220267
  • GC01P190941

Summaries for IARS2 Gene

Entrez Gene Summary for IARS2 Gene

  • Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

GeneCards Summary for IARS2 Gene

IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with IARS2 include Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia and Neuropathy. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity.

Additional gene information for IARS2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IARS2 Gene

Genomics for IARS2 Gene

GeneHancer (GH) Regulatory Elements for IARS2 Gene

Promoters and enhancers for IARS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I220092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 101 2.5 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B GC01M220094 IARS2 EPRS
GH01I220158 Enhancer 0.3 ENCODE 12.6 +65.5 65452 1.7 CEBPG IARS2 MIR194-1 MIR215 EPRS RAB3GAP2 GC01P220165 RPS15AP12
GH01I220114 Enhancer 1.2 ENCODE dbSUPER 0.3 +26.2 26194 11.1 PKNOX1 FOXA2 ARNT FEZF1 ZNF2 ZNF213 ZNF302 E2F8 SP3 REST EPRS RPS15AP12 ZC3H11B RIMKLBP2 RAB3GAP2 ENSG00000272823 GC01P220118 MIR194-1 MIR215 IARS2
GH01I220113 Enhancer 0.6 dbSUPER 0.4 +19.5 19459 0.9 HDGF MEIS2 CTCF TRIM22 RAD21 CHAMP1 KLF16 ZNF143 CUX1 HOMEZ LOC105373475 EPRS RPS15AP12 MIR215 IARS2
GH01I220136 Enhancer 0.4 ENCODE dbSUPER 0.3 +43.3 43322 1.8 RPS15AP12 MIR194-1 IARS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IARS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IARS2 gene promoter:

Genomic Locations for IARS2 Gene

Genomic Locations for IARS2 Gene
chr1:220,094,102-220,148,041
(GRCh38/hg38)
Size:
53,940 bases
Orientation:
Plus strand
chr1:220,267,444-220,321,383
(GRCh37/hg19)

Genomic View for IARS2 Gene

Genes around IARS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IARS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IARS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IARS2 Gene

Proteins for IARS2 Gene

  • Protein details for IARS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSE4-SYIM_HUMAN
    Recommended name:
    Isoleucine--tRNA ligase, mitochondrial
    Protein Accession:
    Q9NSE4
    Secondary Accessions:
    • B2RPG8
    • Q1M2P9
    • Q6PI85
    • Q7L439
    • Q86WU9
    • Q96D91
    • Q9H9Q8
    • Q9NW42

    Protein attributes for IARS2 Gene

    Size:
    1012 amino acids
    Molecular mass:
    113792 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91544.1; Type=Frameshift; Positions=879; Evidence={ECO:0000305}; Sequence=BAB14164.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for IARS2 Gene

Selected DME Specific Peptides for IARS2 Gene

Q9NSE4:
  • GWDCHGLP
  • YGADVLR
  • WDCHGLPIE
  • VHTAPAHG
  • LHDGPPY
  • VHGFTLGEKGEKMSKS
  • RSCQTAL
  • ALAEAELEY
  • SRQRVWG
  • WCISRQR
  • PGWDCHG
  • EKMSKSL
  • GEKMSKS
  • ELYSWQR
  • PWTIPAN
  • SLLTSVA
  • GHALNKI
  • YPYDWRT
  • DWRTKKP
  • DGPPYANG
  • MSKSLGN
  • GWFQSSLLTSV
  • YRDTVLLP
  • GTGLVHTAP

Post-translational modifications for IARS2 Gene

  • Ubiquitination at posLast=241241 and isoforms=445

Other Protein References for IARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for IARS2 Gene

Gene Families for IARS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IARS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSE4

UniProtKB/Swiss-Prot:

SYIM_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with IARS2: view

Function for IARS2 Gene

Molecular function for IARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).

Enzyme Numbers (IUBMB) for IARS2 Gene

Gene Ontology (GO) - Molecular Function for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004822 isoleucine-tRNA ligase activity TAS --
genes like me logo Genes that share ontologies with IARS2: view
genes like me logo Genes that share phenotypes with IARS2: view

Human Phenotype Ontology for IARS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for IARS2 Gene

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for IARS2 Gene

Localization for IARS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IARS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IARS2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with IARS2: view

Pathways & Interactions for IARS2 Gene

genes like me logo Genes that share pathways with IARS2: view

Pathways by source for IARS2 Gene

1 KEGG pathway for IARS2 Gene

Interacting Proteins for IARS2 Gene

Selected Interacting proteins: Q9NSE4-SYIM_HUMAN for IARS2 Gene via IID

Gene Ontology (GO) - Biological Process for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006428 isoleucyl-tRNA aminoacylation IEA --
GO:0006450 regulation of translational fidelity IEA --
GO:0106074 aminoacyl-tRNA metabolism involved in translational fidelity IEA --
genes like me logo Genes that share ontologies with IARS2: view

No data available for SIGNOR curated interactions for IARS2 Gene

Drugs & Compounds for IARS2 Gene

(4) Drugs for IARS2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Isoleucine Approved, Investigational Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for IARS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with IARS2: view

Transcripts for IARS2 Gene

Unigene Clusters for IARS2 Gene

Isoleucyl-tRNA synthetase 2, mitochondrial:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IARS2 Gene

No ASD Table

Relevant External Links for IARS2 Gene

GeneLoc Exon Structure for
IARS2
ECgene alternative splicing isoforms for
IARS2

Expression for IARS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IARS2 Gene

Protein differential expression in normal tissues from HIPED for IARS2 Gene

This gene is overexpressed in Lymph node (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IARS2 Gene



Protein tissue co-expression partners for IARS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IARS2 Gene:

IARS2

SOURCE GeneReport for Unigene cluster for IARS2 Gene:

Hs.262823

Evidence on tissue expression from TISSUES for IARS2 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Skin(4.4)
  • Heart(2.5)
  • Adrenal gland(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IARS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with IARS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IARS2 Gene

Orthologs for IARS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IARS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IARS2 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia IARS2 33 34
  • 89.43 (n)
cow
(Bos Taurus)
Mammalia IARS2 33 34
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Iars2 33 16 34
  • 81.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IARS2 34
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Iars2 33
  • 76.38 (n)
oppossum
(Monodelphis domestica)
Mammalia IARS2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IARS2 33 34
  • 73.83 (n)
lizard
(Anolis carolinensis)
Reptilia IARS2 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iars2 33
  • 67.32 (n)
zebrafish
(Danio rerio)
Actinopterygii iars2 33 34
  • 61.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5414 33 34
  • 49.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003156 33
  • 48.42 (n)
worm
(Caenorhabditis elegans)
Secernentea iars-2 33 34
  • 46.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISM1 33 34
  • 49.8 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11858g 33
  • 49.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL247C 33
  • 47.04 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA2 33
  • 50.83 (n)
rice
(Oryza sativa)
Liliopsida Os02g0778200 33
  • 52.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC18B5.08c 33
  • 49.16 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00920 33
  • 47.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for IARS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IARS2 Gene

ENSEMBL:
Gene Tree for IARS2 (if available)
TreeFam:
Gene Tree for IARS2 (if available)

Paralogs for IARS2 Gene

Pseudogenes.org Pseudogenes for IARS2 Gene

genes like me logo Genes that share paralogs with IARS2: view

No data available for Paralogs for IARS2 Gene

Variants for IARS2 Gene

Sequence variations from dbSNP and Humsavar for IARS2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs143722284 pathogenic, uncertain-significance, Leigh syndrome, not provided 220,137,990(+) G/A coding_sequence_variant, missense_variant
rs3217443 benign, Warburg micro syndrome, Martsolf syndrome 220,148,326(+) AAGAAG/AAG/AAGAAGAAG downstream_transcript_variant
rs373436822 pathogenic, uncertain-significance, Leigh syndrome, not provided 220,126,827(+) G/A coding_sequence_variant, stop_gained
rs529035209 uncertain-significance, Warburg micro syndrome, Martsolf syndrome 220,148,277(+) TGTTT/TGTTTGTTT downstream_transcript_variant
rs587783070 pathogenic, Cataract, Peripheral neuropathy, growth hormone deficiency with short stature, partial sensorineural deafness, Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007] 220,143,109(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for IARS2 Gene

Variant ID Type Subtype PubMed ID
dgv268n106 CNV deletion 24896259
esv2107700 CNV deletion 18987734
esv2663970 CNV deletion 23128226
esv2665152 CNV deletion 23128226
esv2676354 CNV deletion 23128226
esv2723162 CNV deletion 23290073
esv3546999 CNV deletion 23714750
esv3547011 CNV deletion 23714750
esv3547022 CNV deletion 23714750
esv3588893 CNV loss 21293372
esv3588894 CNV loss 21293372
nsv1068500 CNV deletion 25765185
nsv832636 CNV loss 17160897
nsv945295 CNV duplication 23825009
nsv945296 CNV duplication 23825009
nsv947468 CNV deletion 23825009
nsv954222 CNV deletion 24416366

Variation tolerance for IARS2 Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IARS2 Gene

Human Gene Mutation Database (HGMD)
IARS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IARS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IARS2 Gene

Disorders for IARS2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for IARS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
  • cagsss
neuropathy
  • peripheral neuropathy
cataract
  • cataracts
peripheral nervous system disease
  • peripheral nerve disease
growth hormone deficiency
  • isolated somatotropin deficiency
- elite association - COSMIC cancer census association via MalaCards
Search IARS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYIM_HUMAN
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) [MIM:616007]: An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism. {ECO:0000269 PubMed:25130867}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IARS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IARS2: view

No data available for Genatlas for IARS2 Gene

Publications for IARS2 Gene

  1. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. (PMID: 25130867) Schwartzentruber J … Samuels ME (Human mutation 2014) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for IARS2 Gene

Sources for IARS2 Gene

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