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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
External Ids for IARS2 Gene
- HGNC: 29685
- Entrez Gene: 55699
- Ensembl: ENSG00000067704
- OMIM: 612801
- UniProtKB: Q9NSE4
Previous GeneCards Identifiers for IARS2 Gene
- GC01P216656
- GC01P218334
- GC01P220267
- GC01P190941
Summaries 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 Rare Disorder With Lens Opacification. 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
- HGNC(29685)
- Entrez Gene(55699)
- Ensembl(ENSG00000067704)
- OMIM(612801)
- UniProtKB(Q9NSE4)
- Open Targets Platform(ENSG00000067704)
- Monarch Initiative
- Search for IARS2 at DataMed
- Search for IARS2 at HumanCyc
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
Promoters and enhancers for IARS2 Gene
- 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
Genomic Locations for IARS2 Gene
- chr1:220,094,132-220,148,041
- (GRCh38/hg38)
- Size:
- 53,910 bases
- Orientation:
- Plus strand
- chr1:220,267,444-220,321,383
- (GRCh37/hg19)
- Size:
- 53,940 bases
- Orientation:
- Plus strand
Genomic View for IARS2 Gene
Genes around IARS2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q41 by HGNC
- 1q41 by Entrez Gene
- 1q41 by Ensembl
IARS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
Other Protein References for IARS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ IARS2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for IARS2
- Novus Biologicals Antibodies for IARS2
- Invitrogen Antibodies for IARS2 (AFLGC-IARS2)
- antibodies-online: Show 12 available IARS2 Antibodies ranked by validation data
-
Biorbyt antibodies for IARS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for IARS2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IARS2
- Origene Custom Protein Services for IARS2
- Novus Biologicals proteins for IARS2
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
- ProtoNet:
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- Family:
-
- Belongs to the class-I aminoacyl-tRNA synthetase family.
Function for IARS2 Gene
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
| 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 | -- |
Phenotypes for IARS2 Gene
- MGI mutant phenotypes for IARS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IARS2:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- shRNA abundance <= 25%
- Reduced mammosphere formation
- Decreased shRNA abundance
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in ovarian lineage
- Increased shRNA abundance (Z-score > 2)
- Increased viability after borna disease (rVSVΔG*/BDVG) virus infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IARS2 - Select products 50% OFF >
- * IARS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IARS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IARS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IARS2
miRNA for IARS2 Gene
- miRTarBase miRNAs that target IARS2
-
- hsa-miR-92b-3p (MIRT040636)
- hsa-miR-197-3p (MIRT048072)
- hsa-miR-92a-3p (MIRT049747)
- hsa-let-7b-5p (MIRT052088)
- mmu-miR-466n-3p (MIRT583004)
- mmu-miR-669m-3p (MIRT583005)
- mmu-miR-297b-3p (MIRT583006)
- mmu-miR-467g (MIRT583007)
- mmu-miR-466d-3p (MIRT583008)
- mmu-miR-466e-3p (MIRT583009)
- mmu-miR-466a-3p (MIRT583010)
- mmu-miR-466b-3p (MIRT583011)
- mmu-miR-466p-3p (MIRT583012)
- mmu-miR-466c-3p (MIRT583013)
- mmu-miR-1b-5p (MIRT583014)
- mmu-miR-466m-3p (MIRT583015)
- mmu-miR-466o-3p (MIRT583016)
- mmu-miR-323-3p (MIRT583017)
- mmu-miR-669f-3p (MIRT583018)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IARS2
- Browse OriGene Inhibitory RNA Products For IARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS2
Clone Products
- Applied Biological Materials (abm): Clones for IARS2 - Select products 50% OFF >
- * IARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IARS2
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Mitochondria (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA,IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for IARS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Gene Expression |
.48
|
|
Pathways by source for IARS2 Gene
3 Reactome pathways for IARS2 Gene
1 KEGG pathway for IARS2 Gene
Interacting Proteins for IARS2 Gene
GPS-Prot Interaction Network for IARS2
| 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 | -- |
No data available for SIGNOR curated interactions for IARS2 Gene
Drugs & Compounds for IARS2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phosphoric acid | Approved | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| Isoleucine | Investigational | Nutra | Target | 30 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for IARS2 Gene
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 :
-
- ENST00000366922 3530 nts (view in UCSC)
- ENST00000467924 656 nts (view in UCSC)
- ENST00000488777 570 nts (view in UCSC)
- ENST00000490891 447 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IARS2 - Select products 50% OFF >
- * IARS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IARS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IARS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for IARS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IARS2
- Browse OriGene Inhibitory RNA Products For IARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS2
Clone Products
- Applied Biological Materials (abm): Clones for IARS2 - Select products 50% OFF >
- * IARS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for IARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IARS2
Relevant External Links for IARS2 Gene
- GeneLoc Exon Structure for
- IARS2
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IARS2
SOURCE GeneReport for Unigene cluster for IARS2 Gene:
Hs.262823Evidence on tissue expression from TISSUES for IARS2 Gene
- Nervous system(4.7)
- Liver(4.5)
- Skin(4.5)
- Heart(3)
- Muscle(2.4)
- Lung(2.3)
- Intestine(2.3)
- Kidney(2.2)
- Blood(2.1)
- 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
Primer Products
-
OriGene qPCR primer pairs for IARS2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IARS2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Iars2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IARS2 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Iars2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | IARS2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IARS2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IARS2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | iars2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | iars2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5414 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003156 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | iars-2 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISM1 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D11858g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL247C 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | OVA2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0778200 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC18B5.08c 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00920 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
Paralogs for IARS2 Gene
Variants for IARS2 Gene
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 |
|---|---|---|---|---|---|
| 638568 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,143,003(+) | G/A | MISSENSE_VARIANT | |
| 638569 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,102,258(+) | T/C | MISSENSE_VARIANT | |
| 638570 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,141,838(+) | G/A | MISSENSE_VARIANT | |
| 638571 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,143,108(+) | C/T | MISSENSE_VARIANT | |
| 638572 | Pathogenic: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | 220,139,114(+) | A/G | MISSENSE_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IARS2 Gene
Disorders for IARS2 Gene
(16) MalaCards diseases for IARS2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
|
|
| rare disorder with lens opacification |
|
|
| cataract |
|
|
| rare peripheral neuropathy |
|
|
| peripheral nervous system disease |
|
|
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 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
- Open Targets Platform
No data available for Genatlas for IARS2 Gene
Publications for IARS2 Gene
- 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- 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 41
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for IARS2 Gene
- Custom Antibody ServicesOriGene Antibodies for IARS2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for IARS2
- Origene Custom Protein Services for IARS2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IARS2
- Browse OriGene Inhibitory RNA Products For IARS2
- OriGene qPCR primer pairs for IARS2
- OriGene CRISPR knockouts for IARS2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For IARS2
- Sino Biological Human cDNA Clone for IARS2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for IARS2
- Novus Biologicals proteins for IARS2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for IARS2 (AFLGC-IARS2)
- VectorBuilder Custom and pre-made DNA vectors for IARS2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for IARS2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for IARS2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for IARS2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for IARS2
- antibodies-online: Show 12 available IARS2 Antibodies ranked by validation data
- antibodies-online: Search results for available IARS2 related products ranked by validation data
- antibodies-online: Search results for available IARS2 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for IARS2
- Search Santa Cruz Biotechnology (SCBT) for IARS2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IARS2
- Horizon Cell Lines for IARS2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IARS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IARS2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for IARS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS2
- Biorbyt antibodies for IARS2
Sources for IARS2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB