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    DYM dymeclin [ Homo sapiens (human) ]

    Gene ID: 54808, updated on 2-Nov-2024

    Summary

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    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
    mouse all
    NEW
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    Try the new Transcript table

    Genomic context

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    See DYM in Genome Data Viewer
    Location:
    18q21.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49036387..49460645, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (49231816..49658383, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Dimitrov A, et al. Hum Mol Genet, 2009 Feb 1. PMID 18996921
    2. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Ehtesham N, et al. Am J Hum Genet, 2002 Oct. PMID 12161821, Free PMC Article
    3. An association study between the dymeclin gene and schizophrenia in the Japanese population. Yazaki S, et al. J Hum Genet, 2010 Sep. PMID 20555340
    4. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. Thauvin-Robinet C, et al. J Med Genet, 2002 Oct. PMID 12362026, Free PMC Article
    5. Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. Khalifa O, et al. Eur J Pediatr, 2011 Jan. PMID 20865280

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
      Title: A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
    2. 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.
    3. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X).
      Title: A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
    4. A novel homozygous splice-site mutation (IVS15+3G>T)of dymeclin gene in the 18q12-12.1 chromosomal region was detected in Dyggve-Melchior-Clausen syndrome.
      Title: Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
    5. Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix.
      Title: 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.
    6. dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population
      Title: An association study between the dymeclin gene and schizophrenia in the Japanese population.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: An association study between the dymeclin gene and schizophrenia in the Japanese population.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. DYM mutations associated with Dyggve-Melchior-Clausen dysplasia result in mis-localization of Dymeclin.
      Title: The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
    10. Mutations cause Dyggve-Melchior-Clausen syndrome. Normal function may be in process of intracellular digestion of proteins.
      Title: Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    dymeclin
    Names
    dyggve-Melchior-Clausen syndrome protein

    NCBI Reference Sequences (RefSeq)

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    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_001353210.3 → NP_001340139.1  dymeclin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 643
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    2. NM_001353211.3 → NP_001340140.1  dymeclin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 643
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    3. NM_001353212.3 → NP_001340141.1  dymeclin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 698
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    4. NM_001353213.3 → NP_001340142.1  dymeclin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 698
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    5. NM_001353214.3 → NP_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:1 → 699
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    6. NM_001353215.3 → NP_001340144.1  dymeclin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 640
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    7. NM_001353216.3 → NP_001340145.1  dymeclin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 585
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    8. NM_001374428.1 → NP_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:1 → 699
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    9. NM_001374429.1 → NP_001361358.1  dymeclin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 697
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    10. NM_001374430.1 → NP_001361359.1  dymeclin isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 673
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    11. NM_001374431.1 → NP_001361360.1  dymeclin isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 663
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    12. NM_001374432.1 → NP_001361361.1  dymeclin isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 657
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    13. NM_001374433.1 → NP_001361362.1  dymeclin isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    14. NM_001374434.1 → NP_001361363.1  dymeclin isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 608
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    15. NM_001374435.1 → NP_001361364.1  dymeclin isoform 15

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 607
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    16. NM_001374436.1 → NP_001361365.1  dymeclin isoform 16

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 602
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    17. NM_001374437.1 → NP_001361366.1  dymeclin isoform 17

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 585
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    18. NM_001374438.1 → NP_001361367.1  dymeclin isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 584
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    19. NM_001374439.1 → NP_001361368.1  dymeclin isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 583
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    20. NM_001374440.1 → NP_001361369.1  dymeclin isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC090329, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:1 → 570
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    21. NM_001374441.1 → NP_001361370.1  dymeclin isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:60 → 511
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    22. NM_001374442.1 → NP_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:60 → 456
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    23. NM_001374443.1 → NP_001361372.1  dymeclin isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:65 → 455
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    24. NM_001374444.1 → NP_001361373.1  dymeclin isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC016866, AC044840, AC100778
      Conserved Domains (1) summary
      pfam09742
      Location:60 → 395
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    25. NM_017653.6 → NP_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:1 → 644
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047437559.1 → XP_047293515.1  dymeclin isoform X14

    2. XM_047437553.1 → XP_047293509.1  dymeclin isoform X8

    3. XM_017025795.2 → XP_016881284.1  dymeclin isoform X4

    4. XM_047437556.1 → XP_047293512.1  dymeclin isoform X11

    5. XM_047437554.1 → XP_047293510.1  dymeclin isoform X9

    6. XM_011526037.2 → XP_011524339.1  dymeclin isoform X2

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 617
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    7. XM_047437555.1 → XP_047293511.1  dymeclin isoform X10

    8. XM_011526038.3 → XP_011524340.1  dymeclin isoform X3

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 617
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    9. XM_047437558.1 → XP_047293514.1  dymeclin isoform X13

    10. XM_011526041.3 → XP_011524343.1  dymeclin isoform X6

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 557
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    11. XM_011526036.3 → XP_011524338.1  dymeclin isoform X1

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    12. XM_011526039.3 → XP_011524341.1  dymeclin isoform X5

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    13. XM_011526042.3 → XP_011524344.1  dymeclin isoform X7

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 618
      Dymeclin; Dyggve-Melchior-Clausen syndrome protein

    14. XM_047437560.1 → XP_047293516.1  dymeclin isoform X16

    15. XM_047437557.1 → XP_047293513.1  dymeclin isoform X12

    16. XM_006722492.5 → XP_006722555.1  dymeclin isoform X15

      Conserved Domains (1) summary
      pfam09742
      Location:1 → 491
      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_054318710.1 → XP_054174685.1  dymeclin isoform X14

    2. XM_054318704.1 → XP_054174679.1  dymeclin isoform X8

    3. XM_054318700.1 → XP_054174675.1  dymeclin isoform X4

    4. XM_054318707.1 → XP_054174682.1  dymeclin isoform X11

    5. XM_054318705.1 → XP_054174680.1  dymeclin isoform X9

    6. XM_054318698.1 → XP_054174673.1  dymeclin isoform X2

    7. XM_054318706.1 → XP_054174681.1  dymeclin isoform X10

    8. XM_054318699.1 → XP_054174674.1  dymeclin isoform X3

    9. XM_054318709.1 → XP_054174684.1  dymeclin isoform X13

    10. XM_054318702.1 → XP_054174677.1  dymeclin isoform X6

    11. XM_054318697.1 → XP_054174672.1  dymeclin isoform X1

    12. XM_054318711.1 → XP_054174686.1  dymeclin isoform X17

    13. XM_054318701.1 → XP_054174676.1  dymeclin isoform X5

    14. XM_054318703.1 → XP_054174678.1  dymeclin isoform X7

    15. XM_054318713.1 → XP_054174688.1  dymeclin isoform X16

    16. XM_054318708.1 → XP_054174683.1  dymeclin isoform X12

    17. XM_054318712.1 → XP_054174687.1  dymeclin isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTS9.1 GenPept UniProtKB/Swiss-Prot:Q7RTS9

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