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    Plekhm2 pleckstrin homology domain containing, family M (with RUN domain) member 2 [ Mus musculus (house mouse) ]

    Gene ID: 69582, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Plekhm2provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family M (with RUN domain) member 2provided by MGI
    Primary source
    MGI:MGI:1916832
    See related
    Ensembl:ENSMUSG00000028917 AllianceGenome:MGI:1916832
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0842; 2310034J19Rik
    Summary
    Predicted to enable kinesin binding activity. Predicted to be involved in several processes, including autophagosome-lysosome fusion; late endosome to lysosome transport; and natural killer cell mediated cytotoxicity. Predicted to be located in autolysosome and lysosomal membrane. Predicted to be active in endosome membrane. Orthologous to human PLEKHM2 (pleckstrin homology and RUN domain containing M2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 27.1), heart adult (RPKM 26.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Plekhm2 in Genome Data Viewer
    Location:
    4 D3; 4 74.64 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (141353043..141391457, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (141625732..141664146, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene expressed sequence AI507597 Neighboring gene transmembrane protein 82 Neighboring gene STARR-positive B cell enhancer mm9_chr4:141180986-141181286 Neighboring gene solute carrier family 25, member 34 Neighboring gene predicted gene, 54266 Neighboring gene STARR-seq mESC enhancer starr_11927 Neighboring gene regulatory solute carrier protein, family 1, member 1 Neighboring gene DNA-damage inducible protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E11263 Neighboring gene predicted gene, 34863 Neighboring gene STARR-seq mESC enhancer starr_11931

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The Salmonella effector protein SifA plays a dual role in virulence. Zhao W, et al. Sci Rep, 2015 Aug 13. PMID 26268777, Free PMC Article
    2. Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts. Etzion S, et al. Sci Rep, 2024 Jun 28. PMID 38942823, Free PMC Article
    3. Interaction between the SifA virulence factor and its host target SKIP is essential for Salmonella pathogenesis. Diacovich L, et al. J Biol Chem, 2009 Nov 27. PMID 19801640, Free PMC Article
    4. TLR7 mediated viral recognition results in focal type I interferon secretion by dendritic cells. Saitoh SI, et al. Nat Commun, 2017 Nov 17. PMID 29150602, Free PMC Article
    5. Lysosomal dynamics regulate mammalian cortical neurogenesis. Zou W, et al. Dev Cell, 2024 Jan 8. PMID 38103552

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts.
      Title: Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts.
    2. We used a model of SKIP knockout mice to show that this protein mediates the host susceptibility to salmonellosis and to establish that SifA also contributes to Salmonella virulence independently of its interaction with SKIP
      Title: The Salmonella effector protein SifA plays a dual role in virulence.
    3. Data shoe that the N-terminal domain of SifA is sufficient to interact with the pleckstrin homology domain of SKIP, forming a 1:1 complex with a micromolar dissociation constant.
      Title: Interaction between the SifA virulence factor and its host target SKIP is essential for Salmonella pathogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables kinesin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables kinesin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in autophagosome-lysosome fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in late endosome to lysosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in natural killer cell mediated cytotoxicity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in natural killer cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of protein localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in autolysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family M member 2
    Names
    PH domain-containing family M member 2

    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.

    mRNA and Protein(s)

    1. NM_001033150.2 → NP_001028322.1  pleckstrin homology domain-containing family M member 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL670446
      Consensus CDS
      CCDS51348.1
      UniProtKB/Swiss-Prot
      A2ADE1, Q3U0Q7, Q6PD22, Q80TQ5
      UniProtKB/TrEMBL
      Z4YJW6
      Related
      ENSMUSP00000081221.5, ENSMUST00000084203.11
      Conserved Domains (3) summary
      smart00593
      Location:93 → 156
      RUN; domain involved in Ras-like GTPase signaling
      cd13309
      Location:787 → 889
      PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain
      pfam00169
      Location:786 → 887
      PH; PH domain

    2. NM_001347237.2 → NP_001334166.1  pleckstrin homology domain-containing family M member 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL670446
      Consensus CDS
      CCDS84816.1
      UniProtKB/Swiss-Prot
      A2ADE1, Q3U0Q7, Q6PD22, Q80TQ5
      UniProtKB/TrEMBL
      A2ADE0
      Related
      ENSMUSP00000030751.5, ENSMUST00000030751.5
      Conserved Domains (2) summary
      smart00593
      Location:93 → 156
      RUN; domain involved in Ras-like GTPase signaling
      cd13309
      Location:767 → 869
      PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      141353043..141391457 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036164404.1 → XP_036020297.1  pleckstrin homology domain-containing family M member 2 isoform X1

      UniProtKB/Swiss-Prot
      A2ADE1, Q3U0Q7, Q6PD22, Q80TQ5
      Conserved Domains (1) summary
      cd13309
      Location:602 → 704
      PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain

    RNA

    1. XR_390780.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TQ5.2 GenPept UniProtKB/Swiss-Prot:Q80TQ5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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