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    Dym dymeclin [ Mus musculus (house mouse) ]

    Gene ID: 69190, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Dymprovided by MGI
    Official Full Name
    dymeclinprovided by MGI
    Primary source
    MGI:MGI:1918480
    See related
    Ensembl:ENSMUSG00000035765 AllianceGenome:MGI:1918480
    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
    1810041M12Rik; 4933427L07Rik; C030019K18Rik
    Summary
    Predicted to enable enzyme binding activity. Predicted to be involved in Golgi organization and bone development. Predicted to be located in cytoplasm. Predicted to be active in Golgi apparatus. Is expressed in cerebellum; retina inner nuclear layer; and retina outer nuclear layer. Used to study Smith-McCort dysplasia. Human ortholog(s) of this gene implicated in Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia; and osteochondrodysplasia. Orthologous to human DYM (dymeclin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 9.1), cerebellum adult (RPKM 5.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    18 E3; 18 50.97 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (75151772..75420037)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (75018699..75286966)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7609 Neighboring gene STARR-positive B cell enhancer ABC_E7610 Neighboring gene cDNA sequence BC031181 Neighboring gene predicted gene, 26202 Neighboring gene ribosomal protein L17 Neighboring gene STARR-seq mESC enhancer starr_45027 Neighboring gene predicted gene, 52344 Neighboring gene ATP synthase subunit d, mitochondrial pseudogene Neighboring gene STARR-seq mESC enhancer starr_45034 Neighboring gene high mobility group box 1 pseudogene Neighboring gene predicted gene, 46624 Neighboring gene STARR-seq mESC enhancer starr_45036 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:75438314-75438515 Neighboring gene RIKEN cDNA 2010010A06 gene Neighboring gene STARR-seq mESC enhancer starr_45046 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:75464300-75464409 Neighboring gene STARR-positive B cell enhancer ABC_E7611 Neighboring gene STARR-seq mESC enhancer starr_45057 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:75513492-75513601 Neighboring gene STARR-seq mESC enhancer starr_45059 Neighboring gene predicted gene 20544

    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. Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic. Osipovich AB, et al. Proc Natl Acad Sci U S A, 2008 Oct 21. PMID 18852472, Free PMC Article
    2. Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. Dupuis N, et al. Hum Mol Genet, 2015 May 15. PMID 25652408
    3. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Cohn DH, et al. Am J Hum Genet, 2003 Feb. PMID 12491225, Free PMC Article
    4. Development of an efficient screening system to identify novel bone metabolism-related genes using the exchangeable gene trap mutagenesis mouse models. Kurogi S, et al. Sci Rep, 2017 Jan 20. PMID 28106071, Free PMC Article
    5. In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Gineste C, et al. Neuromuscul Disord, 2013 Apr. PMID 23375831

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation.
      Title: Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (3)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC18957

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme 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 bone development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dymeclin

    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_001403761.1 → NP_001390690.1  dymeclin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC121511, AC125122, AC132385

    2. NM_001403762.1 → NP_001390691.1  dymeclin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC121511, AC125122, AC132385

    3. NM_001403763.1 → NP_001390692.1  dymeclin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC121511, AC125122, AC132385

    4. NM_027727.3 → NP_082003.1  dymeclin isoform 2

      See identical proteins and their annotated locations for NP_082003.1

      Status: VALIDATED

      Source sequence(s)
      AC121511, AC125122, AC132385
      Consensus CDS
      CCDS29346.1
      UniProtKB/Swiss-Prot
      Q3U3F3, Q3UDW2, Q569W1, Q8C7M2, Q8CHY3, Q8VCZ4
      Related
      ENSMUSP00000047054.8, ENSMUST00000039608.9
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 646
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      75151772..75420037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526218.5 → XP_006526281.1  dymeclin isoform X2

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 488
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    RNA

    1. XR_386014.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CHY3.1 GenPept UniProtKB/Swiss-Prot:Q8CHY3

    Gene LinkOut

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

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