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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2
Chromosome 7 Β· 7p22.1
NCBI Gene: 7965Ensembl: ENSG00000106305.10HGNC: HGNC:20609UniProt: A8MU58
192PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmembraneaminoacyl-tRNA synthetase multienzyme complexcytosolleukodystrophy, hypomyelinating, 17genetic disorderEpileptic encephalopathyinfantile spasms
✦AI Summary

AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2) serves as a critical scaffold protein in the multi-tRNA synthetase complex (MSC) and functions as a tumor suppressor with diverse cellular roles. As a non-enzymatic component of the MSC, AIMP2 is essential for complex assembly and stability, utilizing leucine zipper motifs to form heterotrimeric complexes with RARS1 and AIMP1 within the 1.5 million Dalton human MSC 12. Beyond protein synthesis, AIMP2 exhibits crucial tumor suppressor functions by stabilizing p53 through prevention of MDM2-mediated degradation and inducing apoptosis in response to DNA damage 3. The protein also regulates RNA editing by enhancing degradation of ADAR proteins in muscle tissues 4. Disease relevance includes hypomyelinating leukodystrophy 17 (HLD17), caused by biallelic loss-of-function mutations in AIMP2 5. An alternatively spliced variant, AIMP2-DX2, lacks exon 2 and acts as an oncogenic factor by competing with full-length AIMP2 for target binding, particularly in lung cancers where it can be induced by nicotine 36. Clinical significance includes potential roles in Parkinson's disease pathogenesis and cancer therapeutics targeting the DX2 variant 7.

Sources cited
1
AIMP2 is a scaffold protein in the multi-synthetase complex with molecular weight of 1.5 million Dalton
PMID: 23536245
2
AIMP2 uses leucine zipper motifs for complex assembly with RARS1 and AIMP1
PMID: 39542129
3
AIMP2 prevents p53 degradation by MDM2 and induces apoptosis; AIMP2-DX2 variant competes with AIMP2
PMID: 38835119
4
AIMP2 reduces editing in muscles by enhancing degradation of ADAR proteins
PMID: 29022589
5
HLD17 is caused by biallelic loss-of-function mutations in AIMP2
PMID: 39640834
6
AIMP2-DX2 is induced by nicotine and promotes lung cancer progression
PMID: 39351074
7
AIMP2 identified as candidate gene for late onset Parkinson's disease
PMID: 34148545
Disease Associationsβ“˜21
leukodystrophy, hypomyelinating, 17Open Targets
0.61Moderate
genetic disorderOpen Targets
0.49Moderate
Epileptic encephalopathyOpen Targets
0.18Weak
infantile spasmsOpen Targets
0.18Weak
neoplasmOpen Targets
0.12Weak
Neurodevelopmental abnormalityOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
infectionOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Weak
lung cancerOpen Targets
0.10Suggestive
acute myeloid leukemiaOpen Targets
0.09Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
multiple myelomaOpen Targets
0.08Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.08Suggestive
esophageal cancerOpen Targets
0.08Suggestive
Gaucher diseaseOpen Targets
0.07Suggestive
Leukodystrophy, hypomyelinating, 17UniProt
Pathogenic Variants7
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)Likely pathogenic
Neurodevelopmental abnormality|Leukodystrophy, hypomyelinating, 17
β˜…β˜…β˜†β˜†2023β†’ Residue 35
NM_006303.4(AIMP2):c.72_73del (p.Met24fs)Pathogenic
Inborn genetic diseases|Leukodystrophy, hypomyelinating, 17
β˜…β˜…β˜†β˜†2022β†’ Residue 24
NM_006303.4(AIMP2):c.575-2A>GPathogenic
Inborn genetic diseases|Leukodystrophy, hypomyelinating, 17
β˜…β˜…β˜†β˜†2022
NM_006303.4(AIMP2):c.656_659del (p.Ser219fs)Likely pathogenic
Leukodystrophy, hypomyelinating, 17
β˜…β˜…β˜†β˜†2021β†’ Residue 219
NM_006303.4(AIMP2):c.658_659del (p.Leu220fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 220
NM_006303.4(AIMP2):c.75C>A (p.Tyr25Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 25
NM_006303.4(AIMP2):c.74A>G (p.Tyr25Cys)Likely pathogenic
Leukodystrophy, hypomyelinating, 17
β˜…β˜†β˜†β˜†β†’ Residue 25
View on ClinVar β†—
Related Genes
KARS1Protein interaction100%MARS1Protein interaction100%QARS1Protein interaction100%EEF1E1Protein interaction100%EPRS1Protein interaction100%RARS1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
85%
Liver
74%
Lung
51%
Bone Marrow
25%
Ovary
24%
Gene Interaction Network
Click a node to explore
AIMP2KARS1MARS1QARS1EEF1E1EPRS1RARS1
PROTEIN STRUCTURE
Preparing viewer…
PDB6K39 Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.54–1.11]
RankingsWhere AIMP2 stands among ~20K protein-coding genes
  • #2,231of 20,598
    Most Researched192 Β· top quartile
  • #3,162of 5,498
    Most Pathogenic Variants7
  • #11,323of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedAIMP2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Architecture and metamorphosis.
PMID: 23536245
Top Curr Chem Β· 2014
1.00
2
Identification of the proteolytic signature in CVB3-infected cells.
PMID: 38953667
J Virol Β· 2024
0.92
3
An extensive in silico analysis of missense mutations of the human
PMID: 39640834
Heliyon Β· 2024
0.90
4
Identification and structure of AIMP2-DX2 for therapeutic perspectives.
PMID: 38835119
BMB Rep Β· 2024
0.80
5
Lewy body-associated proteins: victims, instigators, or innocent bystanders? The case of AIMP2 and alpha-synuclein.
PMID: 34102275
Neurobiol Dis Β· 2021
0.70