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    Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 [ Mus musculus (house mouse) ]

    Gene ID: 213575, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dync2li1provided by MGI
    Official Full Name
    dynein cytoplasmic 2 light intermediate chain 1provided by MGI
    Primary source
    MGI:MGI:1913996
    See related
    Ensembl:ENSMUSG00000024253 AllianceGenome:MGI:1913996
    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
    LIC3; D2lic; CGI-60; mD2LIC; 4933404O11Rik
    Summary
    Predicted to enable dynein heavy chain binding activity. Acts upstream of or within cilium assembly and determination of left/right symmetry. Located in apical part of cell; axoneme; and motile cilium. Is expressed in embryo; gut; heart; metanephros; and node. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy. Orthologous to human DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 9.3), CNS E18 (RPKM 7.9) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dync2li1 in Genome Data Viewer
    Location:
    17 E4; 17 55.02 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (84933903..84962996)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (84626475..84655568)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 Neighboring gene RIKEN cDNA 4930500A05 gene Neighboring gene predicted gene, 26066 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene STARR-seq mESC enhancer starr_43448 Neighboring gene leucine-rich PPR-motif containing Neighboring gene STARR-seq mESC enhancer starr_43449 Neighboring gene STARR-positive B cell enhancer ABC_E3219

    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. A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells. Perrone CA, et al. Mol Biol Cell, 2003 May. PMID 12802074, Free PMC Article
    2. The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification. Bonnafe E, et al. Mol Cell Biol, 2004 May. PMID 15121860, Free PMC Article
    3. Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates. Rana AA, et al. Development, 2004 Oct. PMID 15371312
    4. Quantitative Trait Locus Mapping of Macrophage Cholesterol Metabolism and CRISPR/Cas9 Editing Implicate an ACAT1 Truncation as a Causal Modifier Variant. Hai Q, et al. Arterioscler Thromb Vasc Biol, 2018 Jan. PMID 29097366, Free PMC Article
    5. Glomerulocystic kidney disease in mice with a targeted inactivation of Wwtr1. Hossain Z, et al. Proc Natl Acad Sci U S A, 2007 Jan 30. PMID 17251353, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. required to maintain or establish ventral cell fates and for correct signalling by the organiser and midline
      Title: Targeted deletion of the novel cytoplasmic dynein mD2LIC disrupts the embryonic organiser, formation of the body axes and specification of ventral cell fates.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC7211, MGC40646

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein heavy chain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables dynein heavy chain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary retrograde transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary transport involved in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of cytoplasmic dynein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytoplasmic dynein 2 light intermediate chain 1
    Names
    dynein 2 light intermediate chain

    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_172256.2 → NP_758460.1  cytoplasmic dynein 2 light intermediate chain 1

      See identical proteins and their annotated locations for NP_758460.1

      Status: VALIDATED

      Source sequence(s)
      AC132353
      Consensus CDS
      CCDS29000.1
      UniProtKB/Swiss-Prot
      Q3TVA2, Q8K0T2
      Related
      ENSMUSP00000025101.9, ENSMUST00000025101.10
      Conserved Domains (1) summary
      cl21455
      Location:37 → 241
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      84933903..84962996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K0T2.1 GenPept UniProtKB/Swiss-Prot:Q8K0T2

    Gene LinkOut

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

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