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Aliases for AIMP2 Gene

Aliases for AIMP2 Gene

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

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 2.1 EPDnew Ensembl ENCODE 650.7 +1.4 1381 6.3 CLOCK MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC PPARGC1A PMS2 AIMP2 USP42 ANKRD61 RNF216 C7orf26 EIF2AK1 ZNF316 ZNF12 PMS2CL
GH07J005591 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.3 -413.8 -413792 8.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 FSCN1 C7orf26 USP42 AP5Z1 TNRC18 RNF216P1 RPL22P16 ANKRD61 CCZ1 ENSG00000188365
GH07J005454 Enhancer 0.6 dbSUPER 5.5 -553.7 -553739 2.6 SMARCA5 BCOR ZNF263 ZNF768 ZSCAN4 ZMYM3 NFXL1 ZNF623 CBX1 HDAC2 AP5Z1 TNRC18 RNF216P1 USP42 ENSG00000188365 FBXL18 AIMP2 GC07P005444 ENSG00000230733
GH07J006854 Enhancer 0.3 Ensembl 4.5 +845.9 845926 2.1 ZFX CCZ1B CCZ1 AIMP2 UNC93B2 PIR56080
GH07J006014 Enhancer 1.1 Ensembl ENCODE 0.4 +7.1 7148 3.1 PKNOX1 IRF4 ZNF766 ATF7 RUNX3 RXRA CAVIN1 JUNB ZNF592 MEF2D SNORA80D EIF2AK1 ZNF12 RBAK PMS2 C7orf26 TNRC18 ZNF316 USP42 PMS2CL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AIMP2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AIMP2 Gene

Genomic Locations for AIMP2 Gene
chr7:6,009,245-6,023,834
(GRCh38/hg38)
Size:
14,590 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:
    • Q75MR1
    • Q96CZ5
    • Q9P1L2

    Protein attributes for AIMP2 Gene

    Size:
    320 amino acids
    Molecular mass:
    35349 Da
    Quaternary structure:
    • Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Interacts (via N-terminus) with KARS (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).
    Miscellaneous:
    • Accumulates in brains affected by autosomal-recessive juvenile parkinsonism, idiopathic Parkinson disease and diffuse Lewy body disease.
    SequenceCaution:
    • Sequence=AAC50391.1; Type=Frameshift; Positions=312; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AIMP2 Gene

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

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0032947 protein-containing complex scaffold activity IEA --
genes like me logo Genes that share ontologies with AIMP2: view
genes like me logo Genes that share phenotypes with AIMP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AIMP2

miRNA for AIMP2 Gene

Clone Products

  • Addgene plasmids for AIMP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
peroxisome 1

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

Unigene Clusters for AIMP2 Gene

Aminoacyl tRNA synthetase complex-interacting multifunctional protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
AIMP2

Expression for AIMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of AIMP2 Gene:

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 34 33
  • 98.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIMP2 34 33
  • 87.71 (n)
OneToMany
-- 34
  • 73 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aimp2 16 34 33
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Aimp2 33
  • 82.92 (n)
cow
(Bos Taurus)
Mammalia AIMP2 34 33
  • 82.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIMP2 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIMP2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIMP2 34 33
  • 71.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIMP2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aimp2 33
  • 67.52 (n)
Str.1365 33
African clawed frog
(Xenopus laevis)
Amphibia jtv1-prov 33
zebrafish
(Danio rerio)
Actinopterygii aimp2 34 33
  • 58.41 (n)
OneToOne
wufc09d04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9061 33
fruit fly
(Drosophila melanogaster)
Insecta CG12304 34
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2526 34
  • 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 from dbSNP and Humsavar for AIMP2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1046717239 likely-benign, Lynch syndrome, Hereditary cancer-predisposing syndrome 6,008,988(+) C/T upstream_transcript_variant
rs1062372 benign, Lynch syndrome 6,009,342(+) C/A/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs183250541 likely-benign, Hereditary cancer-predisposing syndrome 6,007,505(+) T/C upstream_transcript_variant
rs192027828 benign, conflicting-interpretations-of-pathogenicity, likely-benign, Hereditary nonpolyposis colon cancer, Hereditary cancer-predisposing syndrome, not specified, Hereditary nonpolyposis colorectal cancer type 4 6,008,987(+) C/G upstream_transcript_variant
rs199660792 uncertain-significance, likely-benign, Hereditary cancer-predisposing syndrome, not specified, Lynch syndrome 6,009,026(+) A/G upstream_transcript_variant

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

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

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

(4) MalaCards diseases for AIMP2 Gene - From: HGMD, OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 17
  • hld17
leukodystrophy, hypomyelinating, 3
  • hld3
lynch syndrome i
  • colorectal cancer, hereditary nonpolyposis, type 1; hnpcc1
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
- elite association - COSMIC cancer census association via MalaCards
Search AIMP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AIMP2

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

No data available for UniProtKB/Swiss-Prot and 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 58
  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 22 58
  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 58
  4. 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 58
  5. Structural switch of lysyl-tRNA synthetase between translation and transcription. (PMID: 23159739) Ofir-Birin Y … Guo M (Molecular cell 2013) 3 4 58

Products for AIMP2 Gene

  • Addgene plasmids for AIMP2

Sources for AIMP2 Gene

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