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DYM dymeclin [ Homo sapiens (human) ]

Gene ID: 54808, updated on 8-Sep-2017
Official Symbol
DYMprovided by HGNC
Official Full Name
dymeclinprovided by HGNC
Primary source
HGNC:HGNC:21317
See related
Ensembl:ENSG00000141627 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 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]
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

  • 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 Jun 15 11:32:44 2016

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 1
MedGen: C1846431 OMIM: 607326 GeneReviews: Not available
Compare labs

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_009239.2 RefSeqGene

    Range
    5001..424260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001353210.1NP_001340139.1  dymeclin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 2 which is 1 aa shorter than isoform 1. Isoforms 2 and 3 have identical lengths but different sequences.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  2. NM_001353211.1NP_001340140.1  dymeclin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 3 which is 1 aa shorter than isoform 1. Isoforms 2 and 3 have identical lengths but different sequences.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  3. NM_001353212.1NP_001340141.1  dymeclin isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and contains an alternate exon compared to variant 1. It encodes isoform 4 which is longer than isoform 1. Isoforms 4 and 5 have identical lengths but different sequences.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1700
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  4. NM_001353213.1NP_001340142.1  dymeclin isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and contains an alternate exon compared to variant 1. It encodes isoform 5 which is longer than isoform 1. Isoforms 4 and 5 have identical lengths but different sequences.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1700
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  5. NM_001353214.1NP_001340143.1  dymeclin isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 3' coding region compared to variant 1. It encodes isoform 6 which is longer than isoform 1.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1701
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  6. NM_001353215.1NP_001340144.1  dymeclin isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the 3' coding region compared to variant 1. It encodes isoform 7 which is shorter than isoform 1.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1640
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  7. NM_001353216.1NP_001340145.1  dymeclin isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon in the 3' coding region compared to variant 1. It encodes isoform 8 which is shorter than isoform 1.
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Conserved Domains (1) summary
    pfam09742
    Location:1585
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  8. NM_017653.4NP_060123.3  dymeclin isoform 1

    See identical proteins and their annotated locations for NP_060123.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the canonical dymeclin protein of 669 amino acids (isoform 1).
    Source sequence(s)
    AC016866, AC044840, AC090329, AC100778, AI753005
    Consensus CDS
    CCDS11937.1
    UniProtKB/Swiss-Prot
    Q7RTS9
    Related
    ENSP00000269445.6, OTTHUMP00000163493, ENST00000269445.10
    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  dymeclin isoform X4

  2. XM_011526037.1XP_011524339.1  dymeclin isoform X2

    Conserved Domains (1) summary
    pfam09742
    Location:1617
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  3. XM_017025800.1XP_016881289.1  dymeclin isoform X14

  4. XM_011526038.1XP_011524340.1  dymeclin isoform X3

    Conserved Domains (1) summary
    pfam09742
    Location:1617
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  5. XM_011526041.1XP_011524343.1  dymeclin isoform X8

    Conserved Domains (1) summary
    pfam09742
    Location:1557
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  6. XM_006722488.2XP_006722551.1  dymeclin isoform X12

    Conserved Domains (1) summary
    pfam09742
    Location:1618
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  7. XM_011526036.1XP_011524338.1  dymeclin isoform X1

    Conserved Domains (1) summary
    pfam09742
    Location:1618
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  8. XM_017025796.1XP_016881285.1  dymeclin isoform X7

  9. XM_011526040.1XP_011524342.1  dymeclin isoform X6

    Conserved Domains (1) summary
    pfam09742
    Location:9562
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  10. XM_017025801.1XP_016881290.1  dymeclin isoform X15

  11. XM_017025798.1XP_016881287.1  dymeclin isoform X11

    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  12. XM_017025799.1XP_016881288.1  dymeclin isoform X13

    Conserved Domains (1) summary
    pfam09742
    Location:1585
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  13. XM_017025797.1XP_016881286.1  dymeclin isoform X10

    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  14. XM_011526039.1XP_011524341.1  dymeclin isoform X5

    Conserved Domains (1) summary
    pfam09742
    Location:1618
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  15. XM_011526042.1XP_011524344.1  dymeclin isoform X9

    Conserved Domains (1) summary
    pfam09742
    Location:1618
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  16. XM_006722490.2XP_006722553.1  dymeclin isoform X16

    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  dymeclin isoform X17

    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  dymeclin isoform X18

    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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