IARS2 Gene (Protein Coding)

Isoleucyl-TRNA Synthetase 2, Mitochondrial

GC01P220094
GIFtS:
42
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. ... See more...

Aliases for IARS2 Gene

Aliases for IARS2 Gene

  • Isoleucyl-TRNA Synthetase 2, Mitochondrial 2 3 5
  • Isoleucine TRNA Ligase 2, Mitochondrial 2 3
  • Isoleucine--TRNA Ligase, Mitochondrial 3 4
  • EC 6.1.1.5 4 50
  • Isoleucine-TRNA Synthetase 2, Mitochondrial 3
  • Isoleucyl-TRNA Synthetase, Mitochondrial 3
  • Mitochondrial Isoleucine TRNA Synthetase 3
  • Isoleucyl-TRNA Synthetase 4
  • FLJ10326 2
  • EC 6.1.1 50
  • CAGSSS 3
  • ILERS 3
  • IARS2 5
  • IleRS 4

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 tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and aminoacyl-tRNA editing activity. An important paralog of this gene is IARS1.

Additional gene information for IARS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IARS2 Gene

Genomics for IARS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH01J220092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 253 2.8 BCLAF1 SP1 ZNF600 MYC ZNF592 KLF9 NFIC POLR2A ZIC2 CHD4 IARS2 EPRS1 piR-34822-027 RAB3GAP2
GH01J220158 Enhancer 0.3 ENCODE 12.7 +65.4 65422 1.7 CEBPB CEBPG IARS2 MIR194-1 MIR215 EPRS1 RAB3GAP2 HSALNG0010707 lnc-BPNT1-1 lnc-BPNT1-2
GH01J220114 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.3 +26.2 26164 11.1 IKZF1 MYC NCOR1 ZNF600 ZNF580 ATF2 ZNF10 NFIC REST CEBPB HSALNG0010705 RPS15AP12 EPRS1 ZC3H11B RIMKLBP2 RAB3GAP2 ENSG00000272823 MIR194-1 MIR215 RF00257-001
GH01J220113 Enhancer 0.6 dbSUPER 0.4 +19.4 19429 0.9 CTCF TRIM22 HOMEZ CUX1 ZHX1 RAD21 CHAMP1 ZNF143 MEIS2 ARID3A LOC105373475 EPRS1 RPS15AP12 MIR215 HSALNG0010705 lnc-RAB3GAP2-1 IARS2 RAB3GAP2
GH01J220270 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 0.1 +177.6 177569 3.8 IKZF1 MYC ZNF600 ZNF580 ZNF592 KLF9 POLR2A NFIC ZBTB10 YY1 RAB3GAP2 lnc-BPNT1-2 lnc-IARS2-5 RPS15AP12 SNX2P1 ZC3H11B BPNT1 AURKAP1 IARS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IARS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IARS2

Top Transcription factor binding sites by QIAGEN in the IARS2 gene promoter:
  • Arnt
  • CBF(2)
  • CBF-A
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-2
  • HEN1
  • Ik-3

Genomic Locations for IARS2 Gene

Latest Assembly
chr1:220,094,132-220,148,041
(GRCh38/hg38)
Size:
53,910 bases
Orientation:
Plus strand

Previous Assembly
chr1:220,267,474-220,321,383
(GRCh37/hg19 by Entrez Gene)
Size:
53,910 bases
Orientation:
Plus strand

chr1:220,267,444-220,321,380
(GRCh37/hg19 by Ensembl)
Size:
53,937 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for IARS2 Gene

Proteins for IARS2 Gene

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  3. Assay products for research

  • 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; Evidence={ECO:0000305}; Sequence=BAB14164.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for IARS2 Gene

Protein Expression for IARS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys241, Lys445, and Lys458
  • Modification sites at PhosphoSitePlus

Other Protein References for IARS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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

Protein Domains for IARS2 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • Isoleucyl-tRNA synthetase signature

Suggested Antigen Peptide Sequences for IARS2 Gene

GenScript: Design optimal peptide antigens:
  • Isoleucine--tRNA ligase (SYIM_HUMAN)

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

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  6. Cell Lines for research

Molecular function for IARS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile); Xref=Rhea:RHEA:11060, Rhea:RHEA-COMP:9666, Rhea:RHEA-COMP:9695, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58045, ChEBI:CHEBI:78442, ChEBI:CHEBI:78528, ChEBI:CHEBI:456215; EC=6.1.1.5;.

Enzyme Numbers (IUBMB) for IARS2 Gene

Phenotypes From GWAS Catalog 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

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS2

No data available for 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 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IARS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with IARS2: view

Pathways & Interactions for IARS2 Gene

PathCards logo

SuperPathways 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

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 IBA 21873635
GO:0032543 mitochondrial translation IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
Isoleucine Investigational Nutra Target 32
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8
genes like me logo Genes that share compounds with IARS2: view

Transcripts for IARS2 Gene

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mRNA/cDNA for IARS2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS2

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

No ASD Table

Relevant External Links for IARS2 Gene

GeneLoc Exon Structure for
IARS2

Expression for IARS2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for IARS2 Gene
mRNA expression by GTEx for IARS2 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Skin(4.5)
  • Heart(3)
  • Lung(2.3)
  • Muscle(2.3)
  • Kidney(2.2)
  • Intestine(2.2)
  • 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
Regions:
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

Primer products for research

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 29 30
  • 99.31 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IARS2 29 30
  • 89.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IARS2 29 30
  • 88.7 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Iars2 29 16 30
  • 81.59 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IARS2 30
  • 79 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Iars2 29
  • 76.38 (n)
Oppossum
(Monodelphis domestica)
 Mammalia IARS2 30
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IARS2 29 30
  • 73.83 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IARS2 30
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia iars2 29
  • 67.32 (n)
Zebrafish
(Danio rerio)
 Actinopterygii iars2 29 30
  • 61.99 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5414 29 30
  • 49.82 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003156 29
  • 48.42 (n)
Worm
(Caenorhabditis elegans)
 Secernentea iars-2 29 30
  • 46.62 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ISM1 29 30
  • 49.8 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D11858g 29
  • 49.75 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGL247C 29
  • 47.04 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons OVA2 29
  • 50.83 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0778200 29
  • 52.06 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC18B5.08c 29
  • 49.16 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU00920 29
  • 47.61 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IARS2: view image
Alliance of Genome Resources:
Additional Orthologs for IARS2

Paralogs for IARS2 Gene

Paralogs for IARS2 Gene

Pseudogenes.org Pseudogenes for IARS2 Gene

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

Variants for IARS2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IARS2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1013605 Uncertain Significance: not provided 220,102,412(+) G/C
NM_018060.4(IARS2):c.749G>C (p.Arg250Thr) 		MISSENSE
1028082 Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 220,141,886(+) C/CT
NM_018060.4(IARS2):c.2502dup (p.Ala835fs) 		FRAMESHIFT
1032019 Uncertain Significance: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 220,103,512(+) C/T
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) 		MISSENSE
1032783 Uncertain Significance: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 220,102,179(+) C/T
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys) 		MISSENSE
985265 Uncertain Significance: Inborn genetic diseases 220,145,561(+) T/C
NM_018060.4(IARS2):c.2804T>C (p.Met935Thr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IARS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
IARS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for IARS2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for IARS2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- 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, ECO:0000269 PubMed:28328135, ECO:0000269 PubMed:30041933, ECO:0000269 PubMed:30419932}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for IARS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 72
  2. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. (PMID: 28328135) Moosa S … Vogel I (American journal of medical genetics. Part A 2017) 4 72
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. 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 40
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

ExternalLinks

View latest publications for IARS2 gene in Mastermind

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