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    Dync2h1 dynein cytoplasmic 2 heavy chain 1 [ Mus musculus (house mouse) ]

    Gene ID: 110350, updated on 12-May-2024

    Summary

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    Official Symbol
    Dync2h1provided by MGI
    Official Full Name
    dynein cytoplasmic 2 heavy chain 1provided by MGI
    Primary source
    MGI:MGI:107736
    See related
    Ensembl:ENSMUSG00000047193 AllianceGenome:MGI:107736
    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
    DHC2; DHC11; DHC1b; Dnchc2; mDHC11; m152Asp; m407Asp; b2b414Clo; 4432416O06Rik; D030010H02Rik; D330044F14Rik
    Summary
    Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including animal organ development; cilium organization; and positive regulation of smoothened signaling pathway. Located in apical part of cell; axoneme; and motile cilium. Is expressed in brain ventricular layer and olfactory epithelium. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 4.9), CNS E11.5 (RPKM 2.2) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dync2h1 in Genome Data Viewer
    Location:
    9 A1; 9
    Exon count:
    92
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (6928550..7177619, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (6928550..7178306, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_23196 Neighboring gene predicted gene, 23097 Neighboring gene STARR-seq mESC enhancer starr_23197 Neighboring gene STARR-seq mESC enhancer starr_23198 Neighboring gene STARR-seq mESC enhancer starr_23199 Neighboring gene STARR-seq mESC enhancer starr_23200 Neighboring gene predicted gene, 53497 Neighboring gene STARR-seq mESC enhancer starr_23204 Neighboring gene STARR-seq mESC enhancer starr_23205 Neighboring gene STARR-seq mESC enhancer starr_23206 Neighboring gene STARR-positive B cell enhancer ABC_E6712 Neighboring gene defective in cullin neddylation 1 domain containing 5 Neighboring gene predicted gene, 31639 Neighboring gene matrix metallopeptidase 13

    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. Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior-Posterior Axis. Legué E, et al. Neuroscience, 2020 Dec 1. PMID 32682825, Free PMC Article
    2. Neuropilin-1 promotes Hedgehog signaling through a novel cytoplasmic motif. Pinskey JM, et al. J Biol Chem, 2017 Sep 15. PMID 28667171, Free PMC Article
    3. Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo. Ocbina PJ, et al. PLoS One, 2009 Aug 31. PMID 19718259, Free PMC Article
    4. What are those cilia doing in the neural tube? Bay SN, et al. Cilia, 2012 Oct 1. PMID 23351466, Free PMC Article
    5. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Caparrós-Martín JA, et al. Hum Mol Genet, 2015 Jul 15. PMID 25908617, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (7)  1 citation
    • Endonuclease-mediated (3) 
    • Gene trapped (1)  1 citation
    • Transgenic (1) 

    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

    Clone Names

    • KIAA1997

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light intermediate chain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to minus-end-directed microtubule motor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within coronary vasculature development 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 
    acts_upstream_of_or_within dorsal/ventral pattern formation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within dorsal/ventral pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule-based movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spinal cord motor neuron differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in 9+2 motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in apical part of cell ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    part_of cytoplasmic dynein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of dynein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytoplasmic dynein 2 heavy chain 1
    Names
    cytoplasmic dynein heavy chain 2
    dynein heavy chain 11
    dynein heavy chain isotype 1B

    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_001364519.1 → NP_001351448.1  cytoplasmic dynein 2 heavy chain 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC155908, BC088991, DQ104402
      Consensus CDS
      CCDS90492.1
      UniProtKB/TrEMBL
      D3Z025
      Related
      ENSMUSP00000120322.2, ENSMUST00000139115.2
      Conserved Domains (1) summary
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1

    2. NM_029851.3 → NP_084127.2  cytoplasmic dynein 2 heavy chain 1 isoform 1

      See identical proteins and their annotated locations for NP_084127.2

      Status: VALIDATED

      Source sequence(s)
      AC155908, DQ104402
      Consensus CDS
      CCDS40528.1
      UniProtKB/Swiss-Prot
      B8JJF9, B8JJG0, O08822, Q45VK7, Q5VI59, Q5VI60, Q5VI61, Q5VI62, Q69Z42, Q8BJL5, Q8BL87, Q8BMC7, Q8BUI9, Q8BXK5, Q9CRR8
      Related
      ENSMUSP00000046733.7, ENSMUST00000048417.13
      Conserved Domains (5) summary
      COG5245
      Location:1361 → 4015
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1120 → 1518
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1651 → 1986
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:4010 → 4303
      Dynein_C; Dynein heavy chain C-terminal 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_000075.7 Reference GRCm39 C57BL/6J

      Range
      6928550..7177619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509827.5 → XP_006509890.1  cytoplasmic dynein 2 heavy chain 1 isoform X3

      Conserved Domains (5) summary
      COG5245
      Location:1361 → 4015
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1120 → 1518
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1651 → 1986
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:4010 → 4303
      Dynein_C; Dynein heavy chain C-terminal domain

    2. XM_030244009.2 → XP_030099869.1  cytoplasmic dynein 2 heavy chain 1 isoform X2

      UniProtKB/Swiss-Prot
      B8JJF9, B8JJG0, O08822, Q45VK7, Q5VI59, Q5VI60, Q5VI61, Q5VI62, Q69Z42, Q8BJL5, Q8BL87, Q8BMC7, Q8BUI9, Q8BXK5, Q9CRR8
      Conserved Domains (5) summary
      COG5245
      Location:1361 → 4015
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1120 → 1518
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1651 → 1986
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:4010 → 4303
      Dynein_C; Dynein heavy chain C-terminal domain

    3. XM_030244008.2 → XP_030099868.1  cytoplasmic dynein 2 heavy chain 1 isoform X1

      Related
      ENSMUSP00000116679.2, ENSMUST00000147193.8
      Conserved Domains (5) summary
      COG5245
      Location:1361 → 4022
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1120 → 1518
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1651 → 1986
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:4017 → 4310
      Dynein_C; Dynein heavy chain C-terminal domain

    4. XM_030244010.2 → XP_030099870.1  cytoplasmic dynein 2 heavy chain 1 isoform X4

      UniProtKB/TrEMBL
      D3Z025
      Conserved Domains (1) summary
      pfam08385
      Location:161 → 639
      DHC_N1; Dynein heavy chain, N-terminal region 1

    RNA

    1. XR_003947762.2 RNA Sequence

    2. XR_001778791.3 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138307.1: Suppressed sequence

      Description
      NM_138307.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q45VK7.1 GenPept UniProtKB/Swiss-Prot:Q45VK7

    Gene LinkOut

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

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