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    AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [ Homo sapiens (human) ]

    Gene ID: 7965, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AIMP2provided by HGNC
    Official Full Name
    aminoacyl tRNA synthetase complex interacting multifunctional protein 2provided by HGNC
    Primary source
    HGNC:HGNC:20609
    See related
    Ensembl:ENSG00000106305 MIM:600859; AllianceGenome:HGNC:20609
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P38; JTV1; HLD17; JTV-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 assembly and stability of the complex. [provided by RefSeq, May 2016]
    Expression
    Ubiquitous expression in testis (RPKM 18.6), duodenum (RPKM 17.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AIMP2 in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (6009272..6023834)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (6127037..6141607)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (6048903..6063465)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CCZ1 homolog, vacuolar protein trafficking and biogenesis associated Neighboring gene radial spoke head 10 homolog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5987517-5988017 Neighboring gene PMS1 homolog 2, mismatch repair system component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6047103-6047794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25615 Neighboring gene small nucleolar RNA, H/ACA box 80D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:6065935-6066435 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 Neighboring gene ankyrin repeat domain 61 Neighboring gene RNA, 7SL, cytoplasmic 851, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. AIMP2 accumulation in brain leads to cognitive deficits and blood secretion in Parkinson's disease. Kim H, et al. J Transl Med, 2024 Oct 10. PMID 39390613, Free PMC Article
    2. Single-cell analysis of AIMP2 splice variants informs on drug sensitivity and prognosis in hematologic cancer. Ku J, et al. Commun Biol, 2020 Oct 30. PMID 33128014, Free PMC Article
    3. An Isoform of the Oncogenic Splice Variant AIMP2-DX2 Detected by a Novel Monoclonal Antibody. Kim DG, et al. Biomolecules, 2020 May 27. PMID 32471182, Free PMC Article
    4. Retractile lysyl-tRNA synthetase-AIMP2 assembly in the human multi-aminoacyl-tRNA synthetase complex. Hei Z, et al. J Biol Chem, 2019 Mar 29. PMID 30733335, Free PMC Article
    5. Label-free molecular probe based on G-quadruplex and strand displacement for sensitive and selective detection and naked eye discrimination of exon 2 deletion of AIMP2. Zang R, et al. Chem Biol Drug Des, 2019 Jun. PMID 30345633

    See all (175) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AIMP2 accumulation in brain leads to cognitive deficits and blood secretion in Parkinson's disease.
      Title: AIMP2 accumulation in brain leads to cognitive deficits and blood secretion in Parkinson's disease.
    2. AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase.
      Title: AIMP2 restricts EV71 replication by recruiting SMURF2 to promote the degradation of 3D polymerase.
    3. Discovery of two distinct aminoacyl-tRNA synthetase complexes anchored to the Plasmodium surface tRNA import protein.
      Title: Discovery of two distinct aminoacyl-tRNA synthetase complexes anchored to the Plasmodium surface tRNA import protein.
    4. AIMP2-DX2 provides therapeutic interface to control KRAS-driven tumorigenesis.
      Title: AIMP2-DX2 provides therapeutic interface to control KRAS-driven tumorigenesis.
    5. Single-cell analysis of AIMP2 splice variants informs on drug sensitivity and prognosis in hematologic cancer.
      Title: Single-cell analysis of AIMP2 splice variants informs on drug sensitivity and prognosis in hematologic cancer.
    6. An Isoform of the Oncogenic Splice Variant AIMP2-DX2 Detected by a Novel Monoclonal Antibody.
      Title: An Isoform of the Oncogenic Splice Variant AIMP2-DX2 Detected by a Novel Monoclonal Antibody.
    7. Structural insight into the interaction between p53 TAD1 and AIMP2-DX2 by NMR.
      Title: Structural insight into the interaction between p53 TAD1 and AIMP2-DX2 by NMR.
    8. developed a label-free method based on the formation of split G-quadruplex in the presence of target DNA combined with strand displacement to detect exon 2 deletion of AIMP2 (DE2) sensitively and selectively
      Title: Label-free molecular probe based on G-quadruplex and strand displacement for sensitive and selective detection and naked eye discrimination of exon 2 deletion of AIMP2.
    9. heat-shock protein HSP70 is a critical determinant for the level of AIMP2-DX2
      Title: Targeting the interaction of AIMP2-DX2 with HSP70 suppresses cancer development.
    10. Retractile lysyl-tRNA synthetase-AIMP2 assembly in the human multi-aminoacyl-tRNA synthetase complex.
      Title: Retractile lysyl-tRNA synthetase-AIMP2 assembly in the human multi-aminoacyl-tRNA synthetase complex.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leukodystrophy, hypomyelinating, 17
    MedGen: C4693912 OMIM: 618006 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Interaction of HIV-1 Gag with aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    matrix gag HIV-1 MA is identified to have a physical interaction with aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in type II pneumocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of aminoacyl-tRNA synthetase multienzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of aminoacyl-tRNA synthetase multienzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    aminoacyl tRNA synthase complex-interacting multifunctional protein 2
    Names
    ARS-interacting multi-functional protein 2
    multisynthase complex auxiliary component p38
    multisynthetase complex auxiliary component p38
    protein JTV-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050738.1 RefSeqGene

      Range
      5022..19584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001326606.2 → NP_001313535.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of the first exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005995, CX867709
      UniProtKB/TrEMBL
      B2R7M3
      Conserved Domains (1) summary
      cd03200
      Location:174 → 269
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2

    2. NM_001326607.2 → NP_001313536.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC005995
      Consensus CDS
      CCDS87475.1
      UniProtKB/TrEMBL
      F8W950
      Related
      ENSP00000378658.2, ENST00000395236.2

    3. NM_001326609.2 → NP_001313538.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).
      Source sequence(s)
      AC005995
      Consensus CDS
      CCDS87476.1
      UniProtKB/TrEMBL
      A8MU58
      Conserved Domains (2) summary
      cd03200
      Location:136 → 231
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2
      pfam18569
      Location:39 → 130
      Thioredoxin_16; Thioredoxin-like domain

    4. NM_001326610.2 → NP_001313539.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).
      Source sequence(s)
      AC005995
      Consensus CDS
      CCDS87476.1
      UniProtKB/TrEMBL
      A8MU58
      Related
      ENSP00000383327.2, ENST00000400479.6
      Conserved Domains (2) summary
      cd03200
      Location:136 → 231
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2
      pfam18569
      Location:39 → 130
      Thioredoxin_16; Thioredoxin-like domain

    5. NM_001326611.3 → NP_001313540.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (d).
      Source sequence(s)
      AC005995, AI479424, AW131494, CB152528, CX756571
      Consensus CDS
      CCDS87476.1
      UniProtKB/TrEMBL
      A8MU58
      Conserved Domains (2) summary
      cd03200
      Location:136 → 231
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2
      pfam18569
      Location:39 → 130
      Thioredoxin_16; Thioredoxin-like domain

    6. NM_001362785.2 → NP_001349714.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI479424, AW131494, CX756571
      UniProtKB/TrEMBL
      B2R7M3
      Conserved Domains (1) summary
      cd03200
      Location:185 → 280
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2

    7. NM_001362787.2 → NP_001349716.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC005995, AI479424, AW131494, CX756571
      UniProtKB/TrEMBL
      B2R7M3
      Conserved Domains (1) summary
      cd03200
      Location:170 → 265
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2

    8. NM_006303.4 → NP_006294.2  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform a

      See identical proteins and their annotated locations for NP_006294.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005995, BC002853
      Consensus CDS
      CCDS5344.1
      UniProtKB/Swiss-Prot
      F8W950, Q13155, Q75MR1, Q96CZ5, Q9P1L2
      UniProtKB/TrEMBL
      B2R7M3
      Related
      ENSP00000223029.3, ENST00000223029.8
      Conserved Domains (2) summary
      cd03200
      Location:214 → 309
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2
      pfam16780
      Location:1 → 33
      AIMP2_LysRS_bd; AIMP2 lysyl-tRNA synthetase binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      6009272..6023834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420835.1 → XP_047276791.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X2

    2. XM_047420834.1 → XP_047276790.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X2

    3. XM_005249847.4 → XP_005249904.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X1

      UniProtKB/TrEMBL
      B2R7M3
      Conserved Domains (1) summary
      cd03200
      Location:207 → 302
      GST_C_AIMP2; Glutathione S-transferase C-terminal-like, alpha helical domain of Aminoacyl tRNA synthetase complex-Interacting Multifunctional Protein 2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      6127037..6141607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359001.1 → XP_054214976.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X2

    2. XM_054359000.1 → XP_054214975.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X2

    3. XM_054358999.1 → XP_054214974.1  aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018570.1: Suppressed sequence

      Description
      NM_018570.1: This RefSeq was removed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13155.2 GenPept UniProtKB/Swiss-Prot:Q13155

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