protein
Aminoacyl tRNA synthase complex-interacting multifunctional protein 2
Gene
AIMP2
Organism
Homo sapiens(9606)
Length
320 aa
Mass
35,349 Da
AIMP2 (Aminoacyl tRNA synthase complex-interacting multifunctional protein 2) is a 35 kDa protein required for assembly and stability of the aminoacyl-tRNA synthase complex (UniProt: Q13155). It functions as a proapoptotic factor and regulates transcription through ubiquitination-mediated degradation of FUBP1, thereby suppressing MYC expression. AIMP2 also blocks MDM2-mediated degradation of p53, supporting its pro-apoptotic role.
In the nervous system, AIMP2 is associated with hypomyelinating leukodystrophy 17 (HLD17), an autosomal recessive neurodevelopmental disorder involving cerebral atrophy, cerebellar involvement, thin corpus callosum, and clinical features including seizures, spasticity, and developmental delay (UniProt: Q13155). These findings underscore its relevance to neuronal function and white matter integrity.
In Alzheimer's disease, AIMP2 is upregulated in post-mortem human AD brain tissue compared to age-matched controls, with a mean log2 fold-change of 0.31 across TMT-labeled proteomics analysis of subcellular fractions (Chaparral AD proteomics). This modest elevation suggests potential involvement in AD-associated pathology, possibly through altered apoptotic signaling or proteostatic mechanisms.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↑ Up in ADP3
not detected
P2
+0.312
S2
not detected
S3
not detected
Mean log₂FC across detected fractions: +0.3115 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
Required for assembly and stability of the aminoacyl-tRNA synthase complex (PubMed:19131329). Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor
Disease associations
Leukodystrophy, hypomyelinating, 17HLD17
An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures.
Sources
Last updated 5/8/2026, 6:35:28 AM