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DYM dymeclin [ Homo sapiens (human) ]

Gene ID: 54808, updated on 5-Mar-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
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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