U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    DYM dymeclin [ Homo sapiens (human) ]

    Gene ID: 54808, updated on 7-Jan-2024

    Summary

    Official Symbol
    DYMprovided by HGNC
    Official Full Name
    dymeclinprovided by HGNC
    Primary source
    HGNC:HGNC:21317
    See related
    Ensembl:ENSG00000141627 MIM:607461; AllianceGenome:HGNC:21317
    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 regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.8), ovary (RPKM 5.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DYM in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49036387..49460645, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49231816..49658383, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (46562757..46987015, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46449409-46450340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46452405-46453366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46459221-46460106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13306 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:46468263-46469462 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46474665-46475166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9441 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46484995-46485788 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46485789-46486582 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46486583-46487376 Neighboring gene uncharacterized LOC105372108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46488965-46489758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9444 Neighboring gene SMAD family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46510218-46510719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46517299-46517928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46520991-46521760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46521761-46522528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46522886-46523584 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46526490-46526679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46527272-46528182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46534574-46535074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46551737-46552638 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:46556151-46556299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46570761-46571726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46571727-46572691 Neighboring gene DYM antisense RNA 1 Neighboring gene microRNA 4744 Neighboring gene uncharacterized LOC124904298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713027-46713528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:46713529-46714028 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:46729371-46730248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13308 Neighboring gene NANOG hESC enhancer GRCh37_chr18:46845924-46846499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9448 Neighboring gene RPL17-C18orf32 readthrough Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:46991502-46992276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13309 Neighboring gene chromosome 18 open reading frame 32 Neighboring gene proline rich 13 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dyggve-Melchior-Clausen syndrome
    MedGen: C0265286 OMIM: 223800 GeneReviews: Not available
    Compare labs
    Smith-McCort dysplasia 1
    MedGen: C3888088 OMIM: 607326 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20071, FLJ90130

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dymeclin
    Names
    dyggve-Melchior-Clausen syndrome protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009239.3 RefSeqGene

      Range
      5000..429258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001353210.3NP_001340139.1  dymeclin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1643
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    2. NM_001353211.3NP_001340140.1  dymeclin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1643
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    3. NM_001353212.3NP_001340141.1  dymeclin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1698
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    4. NM_001353213.3NP_001340142.1  dymeclin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1698
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    5. NM_001353214.3NP_001340143.1  dymeclin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Consensus CDS
      CCDS92460.1
      UniProtKB/TrEMBL
      A0A6Q8PF81
      Related
      ENSP00000501694.1, ENST00000675505.1
      Conserved Domains (1) summary
      pfam09742
      Location:1699
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    6. NM_001353215.3NP_001340144.1  dymeclin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1640
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    7. NM_001353216.3NP_001340145.1  dymeclin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1585
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    8. NM_001374428.1NP_001361357.1  dymeclin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Consensus CDS
      CCDS92460.1
      UniProtKB/TrEMBL
      A0A6Q8PF81
      Conserved Domains (1) summary
      pfam09742
      Location:1699
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    9. NM_001374429.1NP_001361358.1  dymeclin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1697
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    10. NM_001374430.1NP_001361359.1  dymeclin isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1673
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    11. NM_001374431.1NP_001361360.1  dymeclin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1663
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    12. NM_001374432.1NP_001361361.1  dymeclin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1657
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    13. NM_001374433.1NP_001361362.1  dymeclin isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    14. NM_001374434.1NP_001361363.1  dymeclin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1608
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    15. NM_001374435.1NP_001361364.1  dymeclin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1607
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    16. NM_001374436.1NP_001361365.1  dymeclin isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1602
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    17. NM_001374437.1NP_001361366.1  dymeclin isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1585
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    18. NM_001374438.1NP_001361367.1  dymeclin isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1584
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    19. NM_001374439.1NP_001361368.1  dymeclin isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1583
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    20. NM_001374440.1NP_001361369.1  dymeclin isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1570
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    21. NM_001374441.1NP_001361370.1  dymeclin isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:60511
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    22. NM_001374442.1NP_001361371.1  dymeclin isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Consensus CDS
      CCDS92459.1
      Related
      ENSP00000395942.2, ENST00000442713.6
      Conserved Domains (1) summary
      pfam09742
      Location:60456
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    23. NM_001374443.1NP_001361372.1  dymeclin isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:65455
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    24. NM_001374444.1NP_001361373.1  dymeclin isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:60395
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    25. NM_017653.6NP_060123.3  dymeclin isoform 1

      See identical proteins and their annotated locations for NP_060123.3

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Consensus CDS
      CCDS11937.1
      UniProtKB/Swiss-Prot
      A8K5I8, B2RCF9, B4DKI7, Q3ZTS8, Q6P2P5, Q7RTS9, Q8N2M0, Q9BVE9, Q9NPU7
      Related
      ENSP00000269445.6, ENST00000269445.10
      Conserved Domains (1) summary
      pfam09742
      Location:1644
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49036387..49460645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437559.1XP_047293515.1  dymeclin isoform X14

    2. XM_047437553.1XP_047293509.1  dymeclin isoform X8

    3. XM_017025795.2XP_016881284.1  dymeclin isoform X4

    4. XM_047437556.1XP_047293512.1  dymeclin isoform X11

    5. XM_047437554.1XP_047293510.1  dymeclin isoform X9

    6. XM_011526037.2XP_011524339.1  dymeclin isoform X2

      Conserved Domains (1) summary
      pfam09742
      Location:1617
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    7. XM_047437555.1XP_047293511.1  dymeclin isoform X10

    8. XM_011526038.3XP_011524340.1  dymeclin isoform X3

      Conserved Domains (1) summary
      pfam09742
      Location:1617
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    9. XM_047437558.1XP_047293514.1  dymeclin isoform X13

    10. XM_011526041.3XP_011524343.1  dymeclin isoform X6

      Conserved Domains (1) summary
      pfam09742
      Location:1557
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    11. XM_011526036.3XP_011524338.1  dymeclin isoform X1

      Conserved Domains (1) summary
      pfam09742
      Location:1618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    12. XM_011526039.3XP_011524341.1  dymeclin isoform X5

      Conserved Domains (1) summary
      pfam09742
      Location:1618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    13. XM_011526042.3XP_011524344.1  dymeclin isoform X7

      Conserved Domains (1) summary
      pfam09742
      Location:1618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein
    14. XM_047437560.1XP_047293516.1  dymeclin isoform X16

    15. XM_047437557.1XP_047293513.1  dymeclin isoform X12

    16. XM_006722492.5XP_006722555.1  dymeclin isoform X15

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      49231816..49658383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318710.1XP_054174685.1  dymeclin isoform X14

    2. XM_054318704.1XP_054174679.1  dymeclin isoform X8

    3. XM_054318700.1XP_054174675.1  dymeclin isoform X4

    4. XM_054318707.1XP_054174682.1  dymeclin isoform X11

    5. XM_054318705.1XP_054174680.1  dymeclin isoform X9

    6. XM_054318698.1XP_054174673.1  dymeclin isoform X2

    7. XM_054318706.1XP_054174681.1  dymeclin isoform X10

    8. XM_054318699.1XP_054174674.1  dymeclin isoform X3

    9. XM_054318709.1XP_054174684.1  dymeclin isoform X13

    10. XM_054318702.1XP_054174677.1  dymeclin isoform X6

    11. XM_054318697.1XP_054174672.1  dymeclin isoform X1

    12. XM_054318711.1XP_054174686.1  dymeclin isoform X17

    13. XM_054318701.1XP_054174676.1  dymeclin isoform X5

    14. XM_054318703.1XP_054174678.1  dymeclin isoform X7

    15. XM_054318713.1XP_054174688.1  dymeclin isoform X16

    16. XM_054318708.1XP_054174683.1  dymeclin isoform X12

    17. XM_054318712.1XP_054174687.1  dymeclin isoform X15