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    DYM dymeclin [ Homo sapiens (human) ]

    Gene ID: 54808, updated on 24-Sep-2016
    Official Symbol
    DYMprovided by HGNC
    Official Full Name
    dymeclinprovided by HGNC
    Primary source
    HGNC:HGNC:21317
    See related
    Ensembl:ENSG00000141627 HPRD:08469; MIM:607461; Vega:OTTHUMG00000132659
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DMC; SMC
    Summary
    This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    18q21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (49041474..49460709, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (46567846..46987172, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372108 Neighboring gene uncharacterized LOC105372110 Neighboring gene uncharacterized LOC105372109 Neighboring gene uncharacterized LOC100129878 Neighboring gene microRNA 4744 Neighboring gene RPL17-C18orf32 readthrough Neighboring gene proline rich 13 pseudogene 4 Neighboring gene chromosome 18 open reading frame 32

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Dyggve-Melchior-Clausen syndrome
    MedGen: C0265286 OMIM: 223800 GeneReviews: Not available
    Compare labs
    Smith McCort dysplasia
    MedGen: C1846431 OMIM: 607326 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis identifies 20 loci that influence adult height.
    NHGRI GWA Catalog
    Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20071, FLJ90130

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    dymeclin
    Names
    dyggve-Melchior-Clausen syndrome protein

    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.

    Genomic

    1. NG_009239.1 RefSeqGene

      Range
      5001..421908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017653.3NP_060123.3  dymeclin

      See identical proteins and their annotated locations for NP_060123.3

      Status: REVIEWED

      Source sequence(s)
      AK091256, BC001252, BC064394
      Consensus CDS
      CCDS11937.1
      UniProtKB/Swiss-Prot
      Q7RTS9
      Related
      ENSP00000269445, OTTHUMP00000163493, ENST00000269445, OTTHUMT00000255912
      Conserved Domains (1) summary
      pfam09742
      Location:1646
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      49041474..49460709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025795.1XP_016881284.1  

    2. XM_011526037.1XP_011524339.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1619
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    3. XM_017025800.1XP_016881289.1  

    4. XM_011526038.1XP_011524340.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1619
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    5. XM_011526041.1XP_011524343.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1559
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    6. XM_006722488.2XP_006722551.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    7. XM_011526036.1XP_011524338.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1620
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    8. XM_017025796.1XP_016881285.1  

    9. XM_011526040.1XP_011524342.1  

      Conserved Domains (1) summary
      pfam09742
      Location:7564
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    10. XM_017025801.1XP_016881290.1  

    11. XM_017025798.1XP_016881287.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1645
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    12. XM_017025799.1XP_016881288.1  

    13. XM_017025797.1XP_016881286.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1645
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    14. XM_011526039.1XP_011524341.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1620
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    15. XM_011526042.1XP_011524344.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1620
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    16. XM_006722490.2XP_006722553.1  

      See identical proteins and their annotated locations for XP_006722553.1

      Conserved Domains (1) summary
      pfam09742
      Location:1581
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    17. XM_006722491.2XP_006722554.1  

      See identical proteins and their annotated locations for XP_006722554.1

      Conserved Domains (1) summary
      pfam09742
      Location:1496
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    18. XM_006722492.3XP_006722555.1  

      Conserved Domains (1) summary
      pfam09742
      Location:1491
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      46565142..46982392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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