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    Dym dymeclin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 291433, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Dymprovided by RGD
    Official Full Name
    dymeclinprovided by RGD
    Primary source
    RGD:1309111
    See related
    Ensembl:ENSRNOG00000018425 AllianceGenome:RGD:1309111
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1309111
    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. 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
    Biased expression in Muscle (RPKM 88.8), Testes (RPKM 68.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dym in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (70879835..71176006)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (68605131..68900905)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (70996074..71313033)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD58 Neighboring gene similar to human chromosome 18 open reading frame 32 Neighboring gene ribosomal protein L17 Neighboring gene U6 spliceosomal RNA Neighboring gene uncharacterized LOC134482962 Neighboring gene uncharacterized LOC102556053 Neighboring gene SMAD family member 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. Denais C, et al. Hum Mutat, 2011 Feb. PMID 21280149
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 Golgi organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in bone development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus 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
    		  
    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_001106133.2 → NP_001099603.2  dymeclin

      Status: VALIDATED

      Source sequence(s)
      BC098944, CB712341, CO558582, DV722630, EV765460, JAXUCZ010000018
      UniProtKB/TrEMBL
      A6KRI1, D3ZP27
      Related
      ENSRNOP00000060744.1, ENSRNOT00000066336.3
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 646
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086036.1 Reference GRCr8

      Range
      70879835..71176006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063277161.1 → XP_063133231.1  dymeclin isoform X2

    2. XM_063277165.1 → XP_063133235.1  dymeclin isoform X5

      UniProtKB/TrEMBL
      A0A0H2UHP8, A6KRI0

    3. XM_063277162.1 → XP_063133232.1  dymeclin isoform X2

    4. XM_063277164.1 → XP_063133234.1  dymeclin isoform X5

      UniProtKB/TrEMBL
      A0A0H2UHP8, A6KRI0

    5. XM_017600877.3 → XP_017456366.1  dymeclin isoform X1

    6. XM_017600880.3 → XP_017456369.1  dymeclin isoform X3

      UniProtKB/Swiss-Prot
      B4F766
      UniProtKB/TrEMBL
      A6KRI1
      Related
      ENSRNOP00000024950.7

    7. XM_039096637.2 → XP_038952565.1  dymeclin isoform X4

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 644
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    8. XM_063277166.1 → XP_063133236.1  dymeclin isoform X6

    9. XM_017600879.3 → XP_017456368.1  dymeclin isoform X2

    10. XM_008772103.3 → XP_008770325.1  dymeclin isoform X5

      See identical proteins and their annotated locations for XP_008770325.1

      UniProtKB/TrEMBL
      A0A0H2UHP8, A6KRI0, A6KRI1
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 645
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    11. XM_039096638.2 → XP_038952566.1  dymeclin isoform X7

      UniProtKB/TrEMBL
      A0A8I6G5Z6, A6KRI1
      Related
      ENSRNOP00000081467.1
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 583
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    12. XM_017600878.3 → XP_017456367.1  dymeclin isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B4F766.1 GenPept UniProtKB/Swiss-Prot:B4F766

    Gene LinkOut

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

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