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DYM dymeclin [ Homo sapiens (human) ]

Gene ID: 54808, updated on 7-Dec-2014
Official Symbol
DYMprovided by HGNC
Official Full Name
dymeclinprovided by HGNC
Primary source
HGNC:HGNC:21317
See related
HPRD:08469; MIM:607461
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]
Location:
18q21.1
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (49043026..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 CBP80/20-dependent translation initiation factor Neighboring gene microRNA 4743 Neighboring gene SMAD family member 7 Neighboring gene microRNA 4744 Neighboring gene RPL17-C18orf32 readthrough Neighboring gene chromosome 18 open reading frame 32 Neighboring gene proline rich 13 pseudogene 4

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
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
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
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
dymeclin
Names
dymeclin
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 

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

mRNA and Protein(s)

  1. NM_017653.3NP_060123.3  dymeclin

    See proteins identical to NP_060123.3

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    49043026..49460709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722488.1XP_006722551.1  

    Conserved Domains (1) summary
    pfam09742
    Location:1620
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  2. XM_006722487.1XP_006722550.1  

    See proteins identical to XP_006722550.1

    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  3. XM_006722486.1XP_006722549.1  

    See proteins identical to XP_006722549.1

    Conserved Domains (1) summary
    pfam09742
    Location:1645
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  4. XM_006722489.1XP_006722552.1  

    Conserved Domains (1) summary
    pfam09742
    Location:1585
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  5. XM_006722485.1XP_006722548.1  

    See proteins identical to XP_006722548.1

    UniProtKB/Swiss-Prot
    Q7RTS9
    Conserved Domains (1) summary
    pfam09742
    Location:1646
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  6. XM_006722490.1XP_006722553.1  

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

    See proteins identical to XP_006722554.1

    Conserved Domains (1) summary
    pfam09742
    Location:1488
    Dymeclin; Dyggve-Melchior-Clausen syndrome protein
  8. XM_006722492.1XP_006722555.1  

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

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

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

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    43422918..43840755
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)