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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IARS2
isoleucyl-tRNA synthetase 2, mitochondrial
Chromosome 1 Β· 1q41
NCBI Gene: 55699Ensembl: ENSG00000067704.11HGNC: HGNC:29685UniProt: Q9NSE4
112PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionisoleucyl-tRNA aminoacylationmitochondrial translationisoleucine-tRNA ligase activitycataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeLeigh syndromeneurodegenerative diseasemitochondrial disease
✦AI Summary

IARS2 encodes the mitochondrial isoleucyl-tRNA synthetase, an aminoacyl-tRNA synthetase essential for attaching isoleucine to its cognate tRNA during mitochondrial protein synthesis. Beyond its canonical translational role, IARS2 has emerged as a critical regulator of cellular proliferation and metabolic homeostasis across multiple cell types. In cancer biology, IARS2 is frequently upregulated and promotes tumor cell proliferation 12345. IARS2 knockdown consistently inhibits cell proliferation, induces G1 phase cell cycle arrest, and enhances apoptosis in melanoma, osteosarcoma, colon cancer, acute myeloid leukemia, and non-small cell lung cancer 12345. In endothelial cells, IARS2 regulates angiogenesis through ERK1/2 and protein kinase signaling pathways 6. Clinically, biallelic IARS2 mutations cause Leigh syndrome with combined mitochondrial complex I and III deficiencies, leading to impaired oxidative phosphorylation, reduced ATP production, and neurological manifestations 7. IARS2 mutations are also associated with craniosynostosis and abnormal genitalia syndrome 8. The discovery that IARS2 mutations compromise respiratory chain function reveals a pathogenic mechanism beyond simple translational defects, linking mitochondrial protein synthesis to oxidative energy metabolism.

Sources cited
1
IARS2 is highly expressed in melanoma cells and tissues; IARS2 knockdown inhibits proliferation and promotes apoptosis in A375 melanoma cells with G1 phase arrest
PMID: 32724348
2
IARS2 knockdown inhibits osteosarcoma cell proliferation and colony formation while promoting apoptosis in MNNG/HOS and U2OS cells
PMID: 35765273
3
IARS2 is overexpressed in colon cancer tissues and cells; IARS2 knockdown inhibits RKO cell proliferation, induces G1 arrest, and increases apoptosis
PMID: 26722399
4
IARS2 is elevated in AML cells; IARS2 knockdown inhibits HL-60 cell proliferation and causes G1 phase arrest via p53/p21/PCNA/eIF4E pathway regulation
PMID: 30832756
5
IARS2 silencing inhibits NSCLC cell proliferation, induces G1/S phase arrest, and promotes apoptosis in H1299 and A549 cells
PMID: 26639235
6
IARS2 knockdown suppresses endothelial cell proliferation, migration, and angiogenesis through ERK1/2 and protein kinase signaling and VEGF expression
PMID: 34495060
7
Biallelic IARS2 mutations cause Leigh syndrome with combined mitochondrial complexes I and III deficiencies, impaired oxygen consumption, reduced ATP production, and mitochondrial dysfunction
PMID: 39169373
8
IARS2 mutations are associated with Leigh syndrome, craniosynostosis, and abnormal genitalia syndrome; IARS2 functions in mitochondrial translation
PMID: 39062673
Disease Associationsβ“˜21
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeOpen Targets
0.70Strong
Leigh syndromeOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
mitochondrial diseaseOpen Targets
0.37Weak
cataractOpen Targets
0.34Weak
peripheral neuropathyOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.27Weak
multiple sclerosisOpen Targets
0.27Weak
Parkinson diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
smoking initiationOpen Targets
0.15Weak
Martsolf syndromeOpen Targets
0.12Weak
Warburg micro syndromeOpen Targets
0.12Weak
Developmental cataractOpen Targets
0.11Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
melanomaOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.07Suggestive
mathematical abilityOpen Targets
0.07Suggestive
polyneuropathyOpen Targets
0.07Suggestive
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaUniProt
Pathogenic Variants27
NM_018060.4(IARS2):c.2450G>A (p.Arg817His)Pathogenic
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 817
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)Pathogenic
Leigh syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 183
NM_018060.4(IARS2):c.1066+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_018060.4(IARS2):c.267+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018060.4(IARS2):c.2043dup (p.Gly682fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 682
NM_018060.4(IARS2):c.1729dup (p.Glu577fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 577
NM_018060.4(IARS2):c.351T>G (p.Tyr117Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 117
NM_018060.4(IARS2):c.2758C>T (p.Gln920Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 920
NM_018060.4(IARS2):c.330C>A (p.Cys110Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 110
NM_018060.4(IARS2):c.860-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_018060.4(IARS2):c.890G>A (p.Trp297Ter)Likely pathogenic
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 297
NM_018060.4(IARS2):c.314_318del (p.Val105fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 105
NM_018060.4(IARS2):c.280dup (p.Ser94fs)Pathogenic
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_018060.4(IARS2):c.288_289del (p.Tyr97fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 97
NM_018060.4(IARS2):c.2620G>A (p.Gly874Arg)Likely pathogenic
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 874
NM_018060.4(IARS2):c.2775del (p.Ser926fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 926
NM_018060.4(IARS2):c.419del (p.His140fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 140
NM_018060.4(IARS2):c.2350C>T (p.Arg784Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 784
NM_018060.4(IARS2):c.1942_1945dup (p.Lys649delinsIleTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 649
NM_018060.4(IARS2):c.2062G>T (p.Glu688Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 688
View on ClinVar β†—
Related Genes
LARS2Protein interaction99%AARS1Protein interaction98%CARS1Protein interaction98%EPRS1Protein interaction98%GARS1Protein interaction98%HARS1Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Liver
58%
Brain
46%
Ovary
39%
Lung
37%
Bone Marrow
23%
Gene Interaction Network
Click a node to explore
IARS2LARS2AARS1CARS1EPRS1GARS1HARS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NSE4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.68]
RankingsWhere IARS2 stands among ~20K protein-coding genes
  • #4,229of 20,598
    Most Researched112 Β· top quartile
  • #1,896of 5,498
    Most Pathogenic Variants27
  • #5,099of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedIARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RNAi-mediated IARS2 knockdown inhibits proliferation and promotes apoptosis in human melanoma A375 cells.
PMID: 32724348
Oncol Lett Β· 2020
1.00
2
Lentivirus-induced knockdown of IARS2 expression inhibits the proliferation and promotes the apoptosis of human osteosarcoma cells.
PMID: 35765273
Oncol Lett Β· 2022
0.90
3
Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.
PMID: 26722399
Int J Clin Exp Pathol Β· 2015
0.80
4
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
PMID: 39169373
Orphanet J Rare Dis Β· 2024
0.70
5
IARS2 regulates proliferation, migration, and angiogenesis of human umbilical vein endothelial cells.
PMID: 34495060
Rev Assoc Med Bras (1992) Β· 2021
0.60