Gene Gene information from NCBI Gene database.
Entrez ID 7965
Gene name Aminoacyl tRNA synthetase complex interacting multifunctional protein 2
Gene symbol AIMP2
Synonyms (NCBI Gene)
HLD17JTV-1JTV1P38
Chromosome 7
Chromosome location 7p22.1
Summary The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assemb
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT016291 hsa-miR-193b-3p Microarray 20304954
MIRT025288 hsa-miR-34a-5p Proteomics 21566225
MIRT044033 hsa-miR-365a-3p CLASH 23622248
MIRT037437 hsa-miR-744-5p CLASH 23622248
MIRT1928585 hsa-miR-193a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 18695251, 19060904, 21044950, 21285945, 21516116, 21536907, 21900206, 21988832, 22190034, 23159739, 24212136, 24312579, 25416956, 26496610, 26871637, 27107012, 28514442, 29892012, 29997244, 31116475, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 19289464
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600859 20609 ENSG00000106305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13155
Protein name Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (Multisynthase complex auxiliary component p38) (Protein JTV-1)
Protein 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
PDB 4DPG , 4YCU , 4YCW , 5A1N , 5A34 , 5A5H , 5Y6L , 6ILD , 6IY6 , 6JPV , 6K39 , 8J9S , 9DPL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16780 AIMP2_LysRS_bd 1 49 AIMP2 lysyl-tRNA synthetase binding domain Domain
PF18569 Thioredoxin_16 117 208 Thioredoxin-like domain Domain
PF00043 GST_C 235 309 Glutathione S-transferase, C-terminal domain Domain
Sequence
Sequence length 320
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cytosolic tRNA aminoacylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukodystrophy, hypomyelinating, 17 Pathogenic; Likely pathogenic rs869312968, rs760123492, rs529613640, rs147658637, rs1786357576 RCV002247639
RCV003985133
RCV000656387
RCV001375046
RCV003120520
Neurodevelopmental abnormality Likely pathogenic rs529613640 RCV000579202
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AIMP2-related disorder Likely benign; Benign rs746501522, rs145382336, rs140169208, rs145256692, rs566052179, rs767064905, rs374110509, rs1448273730, rs34525431 RCV003960879
RCV003903507
RCV003923649
RCV003963543
RCV003919210
RCV003892234
RCV003903886
RCV003914124
RCV003926256
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 33128014, 35546148
Drug Related Side Effects and Adverse Reactions Associate 28383562
Leukemia Myeloid Acute Associate 33128014
Lung Neoplasms Associate 22562359, 35546148
Melanoma Cutaneous Malignant Associate 34986671
Neoplasm Metastasis Associate 34986671
Neoplasms Associate 22562359, 33128014
Neoplasms Inhibit 35546148
Nervous System Diseases Associate 28383562
Parkinson Disease Associate 28383562, 28972555, 31366968, 34148545