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AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2
AIMP2 is located on the short (p) arm of chromosome 7, at band 7p22.1. Arm ratio per GRCh38 - banding schematic.
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Overview
AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2) encodes a scaffold protein that functions both as a structural component of the aminoacyl-tRNA synthetase complex and as a regulator of diverse cellular processes. The protein participates in the assembly and stability of the multi-enzyme complex responsible for charging transfer RNAs with their cognate amino acids during translation.
Beyond its canonical role in protein synthesis, AIMP2 interacts with regulatory proteins involved in cellular stress responses, genome maintenance, and apoptosis. The gene is located on chromosome 7 at band p22.1 and produces a 320-amino acid protein with distinct functional domains that mediate these diverse interactions.
What the gene does
The AIMP2 protein serves as a non-catalytic scaffold within the multi-tRNA synthetase complex, stabilising the association of multiple aminoacyl-tRNA synthetases and coordinating their activity during protein synthesis. This structural role ensures efficient and accurate charging of tRNA molecules, a fundamental step in translating genetic information into functional proteins.
AIMP2 also functions independently of the synthetase complex through direct protein-protein interactions. The protein binds to PRKN (parkin), a ubiquitin ligase involved in mitochondrial quality control and whose dysfunction is associated with Parkinson's disease. Additionally, AIMP2 interacts with TP53 (p53), the tumour suppressor protein, modulating cellular responses to DNA damage and stress signals. Through these interactions, AIMP2 influences apoptotic pathways and cellular survival decisions.
The protein's multifunctional nature reflects a broader principle in cell biology whereby translation machinery components perform regulatory roles beyond their primary metabolic functions. This dual functionality allows cells to coordinate protein synthesis rates with growth signals and stress conditions.
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Chromosome location
AIMP2 is located on the short arm of chromosome 7 at cytogenetic band p22.1. This chromosomal region contains multiple genes involved in cellular regulation and metabolism. The precise genomic coordinates and exon structure contribute to the generation of the 320-amino acid protein product through standard transcription and splicing mechanisms.
Protein structure
The AIMP2 protein comprises 320 amino acids organised into functionally distinct regions that mediate its diverse interactions. The Interaction with PRKN region spans amino acids 82-162, enabling AIMP2 to bind parkin and participate in pathways related to mitochondrial quality control. The Interaction with TP53 region encompasses amino acids 162-225, facilitating the protein's role in tumour suppressor signalling and stress responses.
The carboxy-terminal portion contains a GST C-terminal domain extending from amino acid 220 to 317. This domain contributes to the protein's structural stability and may participate in additional protein-protein interactions. The spatial arrangement of these regions allows AIMP2 to function simultaneously as a scaffold within the synthetase complex and as a signalling molecule in regulatory pathways.
Key variants
Genetic variants in AIMP2 may affect either the protein's structural role in the aminoacyl-tRNA synthetase complex or its regulatory interactions with PRKN and TP53. Changes that disrupt domain function could theoretically impair protein synthesis fidelity or alter cellular responses to stress. The clinical significance of AIMP2 variants is an area of ongoing investigation, with inheritance patterns varying depending on the specific molecular mechanism involved.
Sample of pathogenic variants
2 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.72_73del | p.Met24fs | Pathogenic/Likely pathogenic | ★★☆☆ | Leukodystrophy, hypomyelinating, 17 |
c.75C>A | p.Tyr25Ter | Pathogenic | ★☆☆☆ | Inborn genetic diseases |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Currently, no specific inherited conditions have been definitively linked to pathogenic variants in AIMP2 in major clinical databases. The gene's multiple cellular functions suggest that variants could potentially contribute to disorders affecting protein synthesis, mitochondrial function, or cellular stress responses. Research continues to explore the possible role of AIMP2 alterations in human disease, particularly given the protein's interactions with pathways implicated in neurodegeneration and cancer.
No disease links recorded for this gene in our reference set.
UK clinical status
Frequently asked questions
What does the AIMP2 protein do in cells?
AIMP2 functions as a scaffold protein within the aminoacyl-tRNA synthetase complex, supporting accurate protein synthesis. The protein also interacts with regulatory molecules including parkin and p53, influencing cellular responses to stress and maintaining genome stability.
Where is the AIMP2 gene located?
AIMP2 is located on chromosome 7 at band p22.1, on the short arm of the chromosome. The gene encodes a 320-amino acid protein with distinct functional domains.
Are there genetic tests available for AIMP2?
AIMP2 can be analysed through clinical genetic sequencing panels, though it is not currently part of standard NHS genomic medicine pathways. Testing availability depends on the specific clinical indication and the genes included in the ordered panel.