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 assembly and stability of the complex. [provided by RefSeq, May 2016] See more...

Aliases for AIMP2 Gene

Aliases for AIMP2 Gene

  • Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2 2 3 5
  • Aminoacyl TRNA Synthase Complex-Interacting Multifunctional Protein 2 3 4
  • Multisynthase Complex Auxiliary Component P38 3 4
  • Protein JTV-1 3 4
  • JTV1 3 4
  • Multisynthetase Complex Auxiliary Component P38 3
  • ARS-Interacting Multi-Functional Protein 2 3
  • HLD17 3
  • JTV-1 3
  • P38 3

External Ids for AIMP2 Gene

Summaries for AIMP2 Gene

Entrez Gene Summary for AIMP2 Gene

  • 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 assembly and stability of the complex. [provided by RefSeq, May 2016]

GeneCards Summary for AIMP2 Gene

AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2) is a Protein Coding gene. Diseases associated with AIMP2 include Leukodystrophy, Hypomyelinating, 17 and Leukodystrophy, Hypomyelinating, 3. Among its related pathways are Gene Expression and tRNA Aminoacylation.

UniProtKB/Swiss-Prot Summary for AIMP2 Gene

  • 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.

Gene Wiki entry for AIMP2 Gene

Additional gene information for AIMP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIMP2 Gene

Genomics for AIMP2 Gene

GeneHancer (GH) Regulatory Elements for AIMP2 Gene

Promoters and enhancers for AIMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J006007 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.3 1338 6.4 ZBTB40 ZNF217 EP300 SIN3A MYC NRF1 USF1 POLR2G SP1 GTF2E2 PMS2 AIMP2 EIF2AK1 C7orf26 ZNF316 ZNF12 TNRC18 PMS2CL KDELR2 CCZ1
GH07J005454 Enhancer 0.7 Ensembl dbSUPER 5.5 -553.2 -553150 1 ZNF263 ZNF623 RBM25 BCOR CBX1 KDM1A ZBTB33 ZMYM3 PHF20 ZSCAN4 FBXL18 AIMP2 piR-41306-240 piR-43105-578 RF00017-6005
GH07J005591 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.3 -413.8 -413798 8.6 HNRNPK ZNF217 EP300 CTCF NRF1 POLR2G SP1 GTF2E2 JUND PHF8 FSCN1 USP42 C7orf26 TNRC18 RNF216P1 ANKRD61 RBAK CCZ1 ACTB FBXL18
GH07J005441 Enhancer 0.7 Ensembl dbSUPER 4.7 -567.1 -567050 3.2 POLR2A RBM22 ZNF189 NFE2 ZBTB33 PAF1 ZBTB40 AGO2 AGO1 MYC AIMP2 piR-43105-578 RF00017-6014 FBXL18 RF00017-6005
GH07J006014 Enhancer 1.1 Ensembl ENCODE 0.4 +7.1 7142 3.1 ZBTB10 CLOCK AFF1 TRIM28 CTBP1 EP300 MYC OSR2 NFRKB ZBTB17 SNORA80D piR-43105-580 EIF2AK1 PMS2 PMS2CL ENSG00000198580 CCZ1 RSPH10B ZDHHC4 AIMP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIMP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AIMP2

Genomic Locations for AIMP2 Gene

Genomic Locations for AIMP2 Gene
chr7:6,009,251-6,023,834
(GRCh38/hg38)
Size:
14,584 bases
Orientation:
Plus strand
chr7:6,048,876-6,063,465
(GRCh37/hg19)
Size:
14,590 bases
Orientation:
Plus strand

Genomic View for AIMP2 Gene

Genes around AIMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIMP2 Gene

Proteins for AIMP2 Gene

  • Protein details for AIMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13155-AIMP2_HUMAN
    Recommended name:
    Aminoacyl tRNA synthase complex-interacting multifunctional protein 2
    Protein Accession:
    Q13155
    Secondary Accessions:
    • F8W950
    • Q75MR1
    • Q96CZ5
    • Q9P1L2

    Protein attributes for AIMP2 Gene

    Size:
    320 amino acids
    Molecular mass:
    35349 Da
    Quaternary structure:
    • Part of the multisynthetase complex (MSC), a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS1), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:24312579, PubMed:19131329, PubMed:19289464). Interacts (via N-terminus) with KARS1 (PubMed:9878398, PubMed:15220430, PubMed:18029264, PubMed:23159739, PubMed:26074468). Interacts with EPRS (PubMed:26472928). Forms a linear complex that contains MARS, EEF1E1, EPRS and AIMP2 that is at the core of the multisubunit complex (PubMed:26472928). Binds FUBP1 (via C-terminus). Interacts in both its unphosphorylated and phosphorylated forms with p53/TP53 (via N-terminus) in the nucleus following UV irradiation. Interacts (via N-terminus) with PRKN/parkin (via first RING-type domain) (PubMed:16135753). Interacts with TARSL2 (PubMed:24312579).
    Miscellaneous:
    • Accumulates in brains affected by autosomal-recessive juvenile parkinsonism, idiopathic Parkinson disease and diffuse Lewy body disease.
    SequenceCaution:
    • Sequence=AAC50391.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AIMP2 Gene

    Alternative splice isoforms for AIMP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIMP2 Gene

Post-translational modifications for AIMP2 Gene

  • Phosphorylated on serine residues in response to UV irradiation.
  • Ubiquitinated by PRKN, leading to its degradation by the proteasome. Mutant PRKN fails to ubiquitinate AIMP2 efficiently, allowing its accumulation which may contribute to neurodegeneration associated with Parkinson disease.
  • Ubiquitination at Lys7
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AIMP2 Gene

Domains & Families for AIMP2 Gene

Gene Families for AIMP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AIMP2 Gene

Suggested Antigen Peptide Sequences for AIMP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein JTV-1 (AIMP2_HUMAN)
genes like me logo Genes that share domains with AIMP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AIMP2 Gene

Function for AIMP2 Gene

Molecular function for AIMP2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for AIMP2 Gene

Gene Ontology (GO) - Molecular Function for AIMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0060090 molecular adaptor activity IEA --
genes like me logo Genes that share ontologies with AIMP2: view
genes like me logo Genes that share phenotypes with AIMP2: view

Human Phenotype Ontology for AIMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for AIMP2

CRISPR Products

miRNA for AIMP2 Gene

Clone Products

  • Addgene plasmids for AIMP2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AIMP2 Gene

Localization for AIMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIMP2 Gene

Cytoplasm, cytosol. Nucleus. Note=Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus. {ECO:0000250 UniProtKB:Q8R010}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIMP2 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AIMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA 19131329
genes like me logo Genes that share ontologies with AIMP2: view

Pathways & Interactions for AIMP2 Gene

genes like me logo Genes that share pathways with AIMP2: view

Gene Ontology (GO) - Biological Process for AIMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
GO:0008285 negative regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with AIMP2: view

No data available for SIGNOR curated interactions for AIMP2 Gene

Drugs & Compounds for AIMP2 Gene

No Compound Related Data Available

Transcripts for AIMP2 Gene

mRNA/cDNA for AIMP2 Gene

9 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for AIMP2

Alternative Splicing Database (ASD) splice patterns (SP) for AIMP2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5: -

Relevant External Links for AIMP2 Gene

GeneLoc Exon Structure for
AIMP2

Expression for AIMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AIMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIMP2 Gene

This gene is overexpressed in Muscle - Skeletal (x6.7).

Protein differential expression in normal tissues from HIPED for AIMP2 Gene

This gene is overexpressed in Breast (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AIMP2 Gene



Protein tissue co-expression partners for AIMP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AIMP2

SOURCE GeneReport for Unigene cluster for AIMP2 Gene:

Hs.301613

Evidence on tissue expression from TISSUES for AIMP2 Gene

  • Liver(4.2)
  • Nervous system(2.8)
  • Intestine(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with AIMP2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AIMP2 Gene

Orthologs for AIMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for AIMP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIMP2 31 30
  • 98.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIMP2 31 30
  • 87.71 (n)
OneToMany
-- 31
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aimp2 17 31 30
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Aimp2 30
  • 82.92 (n)
cow
(Bos Taurus)
Mammalia AIMP2 31 30
  • 82.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIMP2 31
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIMP2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIMP2 31 30
  • 71.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIMP2 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aimp2 30
  • 67.52 (n)
Str.1365 30
African clawed frog
(Xenopus laevis)
Amphibia jtv1-prov 30
zebrafish
(Danio rerio)
Actinopterygii aimp2 31 30
  • 58.41 (n)
OneToOne
wufc09d04 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9061 30
fruit fly
(Drosophila melanogaster)
Insecta CG12304 31
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2526 31
  • 30 (a)
OneToOne
Species where no ortholog for AIMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AIMP2 Gene

ENSEMBL:
Gene Tree for AIMP2 (if available)
TreeFam:
Gene Tree for AIMP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AIMP2: view image

Paralogs for AIMP2 Gene

genes like me logo Genes that share paralogs with AIMP2: view

No data available for Paralogs for AIMP2 Gene

Variants for AIMP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AIMP2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1062372 Benign: Lynch syndrome 6,009,342(+) C/A FIVE_PRIME_UTR_VARIANT
rs139842556 Uncertain Significance: not provided 6,009,379(+) G/C SPLICE_DONOR_VARIANT,MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs529613640 Conflicting Interpretations: Neurodevelopmental abnormality; LEUKODYSTROPHY, HYPOMYELINATING, 17 6,009,468(+) C/A NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs77199218 Benign: Lynch syndrome 6,011,165(+) G/T MISSENSE_VARIANT,INTRON_VARIANT
rs78453798 Benign: Lynch syndrome 6,011,578(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AIMP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AIMP2 Gene

Variant ID Type Subtype PubMed ID
dgv6241n100 CNV gain 25217958
esv1914954 OTHER inversion 16254605
esv3541116 CNV deletion 23714750
esv3612008 CNV loss 21293372
esv3612009 CNV gain 21293372
esv3891031 CNV loss 25118596
nsv1018388 CNV gain 25217958
nsv1034916 CNV gain 25217958
nsv436904 CNV insertion 17901297
nsv605998 CNV loss 21841781
nsv7392 OTHER inversion 18451855
nsv830894 CNV loss 17160897

Variation tolerance for AIMP2 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIMP2 Gene

Human Gene Mutation Database (HGMD)
AIMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIMP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIMP2 Gene

Disorders for AIMP2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AIMP2 Gene - From: OMIM, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search AIMP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AIMP2_HUMAN
  • Leukodystrophy, hypomyelinating, 17 (HLD17) [MIM:618006]: 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. {ECO:0000269 PubMed:29215095}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AIMP2

genes like me logo Genes that share disorders with AIMP2: view

No data available for Genatlas for AIMP2 Gene

Publications for AIMP2 Gene

  1. AIMP2/p38, the scaffold for the multi-tRNA synthetase complex, responds to genotoxic stresses via p53. (PMID: 18695251) Han JM … Kim S (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 4 54
  2. Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein. (PMID: 9878398) Quevillon S … Mirande M (Journal of molecular biology 1999) 3 4 23 54
  3. Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene. (PMID: 8666379) Nicolaides NC … Vogelstein B (Genomics 1995) 2 3 4 54
  4. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. (PMID: 29215095) Shukla A … Dalal A (Journal of human genetics 2018) 3 4 54
  5. Assembly of Multi-tRNA Synthetase Complex via Heterotetrameric Glutathione Transferase-homology Domains. (PMID: 26472928) Cho HY … Kim S (The Journal of biological chemistry 2015) 3 4 54

Products for AIMP2 Gene

Sources for AIMP2 Gene