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Aliases for DYM Gene

Aliases for DYM Gene

  • Dymeclin 2 3 5
  • Dyggve-Melchior-Clausen Syndrome Protein 3 4
  • DMC 3
  • SMC 3

External Ids for DYM Gene

Previous GeneCards Identifiers for DYM Gene

  • GC18M044825
  • GC18M046570
  • GC18M043422

Summaries for DYM Gene

Entrez Gene Summary for DYM Gene

  • 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]

GeneCards Summary for DYM Gene

DYM (Dymeclin) is a Protein Coding gene. Diseases associated with DYM include smith-mccort dysplasia and dyggve-melchior-clausen disease. GO annotations related to this gene include binding and enzyme binding.

UniProtKB/Swiss-Prot for DYM Gene

  • Necessary for correct organization of Golgi apparatus. Involved in bone development.

Gene Wiki entry for DYM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYM Gene

Genomics for DYM Gene

Regulatory Elements for DYM Gene

Promoters for DYM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DYM on UCSC Golden Path with GeneCards custom track

Genomic Location for DYM Gene

Chromosome:
18
Start:
49,041,474 bp from pter
End:
49,461,347 bp from pter
Size:
419,874 bases
Orientation:
Minus strand

Genomic View for DYM Gene

Genes around DYM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYM Gene

Proteins for DYM Gene

  • Protein details for DYM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTS9-DYM_HUMAN
    Recommended name:
    Dymeclin
    Protein Accession:
    Q7RTS9
    Secondary Accessions:
    • A8K5I8
    • B2RCF9
    • B4DKI7
    • Q3ZTS8
    • Q6P2P5
    • Q8N2M0
    • Q9BVE9
    • Q9NPU7

    Protein attributes for DYM Gene

    Size:
    669 amino acids
    Molecular mass:
    75935 Da
    Quaternary structure:
    • Interacts with GOLM1 and PPIB.

    Alternative splice isoforms for DYM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYM Gene

Proteomics data for DYM Gene at MOPED

Post-translational modifications for DYM Gene

  • Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.
  • Ubiquitination at Lys 498 and Lys 608
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for DYM Gene

Domains & Families for DYM Gene

Protein Domains for DYM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DYM Gene

Graphical View of Domain Structure for InterPro Entry

Q7RTS9

UniProtKB/Swiss-Prot:

DYM_HUMAN :
  • Belongs to the dymeclin family.
Family:
  • Belongs to the dymeclin family.
genes like me logo Genes that share domains with DYM: view

No data available for Gene Families for DYM Gene

Function for DYM Gene

Molecular function for DYM Gene

UniProtKB/Swiss-Prot Function:
Necessary for correct organization of Golgi apparatus. Involved in bone development.

Gene Ontology (GO) - Molecular Function for DYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019899 enzyme binding IPI 21280149
genes like me logo Genes that share ontologies with DYM: view
genes like me logo Genes that share phenotypes with DYM: view

Human Phenotype Ontology for DYM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DYM Gene

Localization for DYM Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYM Gene

Cytoplasm. Golgi apparatus. Membrane; Lipid-anchor. Note=Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYM Gene COMPARTMENTS Subcellular localization image for DYM gene
Compartment Confidence
golgi apparatus 5
cytosol 3
plasma membrane 3
extracellular 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for DYM Gene

Pathways & Interactions for DYM Gene

SuperPathways for DYM Gene

No Data Available

Interacting Proteins for DYM Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000269445%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000348849%0d%0a
Selected Interacting proteins: ENSP00000269445 Q7RTS9-DYM_HUMAN for DYM Gene via STRING I2D

Gene Ontology (GO) - Biological Process for DYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 21280149
genes like me logo Genes that share ontologies with DYM: view

No data available for Pathways by source and SIGNOR curated interactions for DYM Gene

Drugs & Compounds for DYM Gene

No Compound Related Data Available

Transcripts for DYM Gene

Unigene Clusters for DYM Gene

Dymeclin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DYM Gene

No ASD Table

Relevant External Links for DYM Gene

GeneLoc Exon Structure for
DYM
ECgene alternative splicing isoforms for
DYM

Expression for DYM Gene

mRNA expression in normal human tissues for DYM Gene

Protein differential expression in normal tissues from HIPED for DYM Gene

This gene is overexpressed in Bone (55.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for DYM Gene



SOURCE GeneReport for Unigene cluster for DYM Gene Hs.162996

mRNA Expression by UniProt/SwissProt for DYM Gene

Q7RTS9-DYM_HUMAN
Tissue specificity: Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland.
genes like me logo Genes that share expression patterns with DYM: view

Protein tissue co-expression partners for DYM Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DYM Gene

Orthologs for DYM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DYM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYM 36
  • 100 (a)
OneToOne
DYM 35
  • 99.75 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia DYM 36
  • 97 (a)
OneToOne
DYM 35
  • 92.38 (n)
  • 97.31 (a)
dog
(Canis familiaris)
Mammalia DYM 35
  • 91.43 (n)
  • 97.76 (a)
DYM 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dym 36
  • 95 (a)
OneToOne
Dym 16
Dym 35
  • 86.2 (n)
  • 94.77 (a)
oppossum
(Monodelphis domestica)
Mammalia DYM 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYM 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dym 35
  • 84.26 (n)
  • 92.78 (a)
chicken
(Gallus gallus)
Aves DYM 35
  • 78.79 (n)
  • 88.17 (a)
DYM 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYM 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33862 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dym 35
  • 72.36 (n)
  • 82.63 (a)
Str.16119 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6709 35
zebrafish
(Danio rerio)
Actinopterygii dym 35
  • 65.97 (n)
  • 75.28 (a)
dym 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009765 35
  • 52.38 (n)
  • 48.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8230 36
  • 42 (a)
OneToOne
CG8230 35
  • 50.41 (n)
  • 46.15 (a)
worm
(Caenorhabditis elegans)
Secernentea C47D12.2 36
  • 36 (a)
OneToOne
C47D12.2 35
  • 49 (n)
  • 41.73 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04200 35
  • 44.69 (n)
  • 33.75 (a)
rice
(Oryza sativa)
Liliopsida Os01g0773100 35
  • 46.58 (n)
  • 34.62 (a)
Species with no ortholog for DYM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYM Gene

ENSEMBL:
Gene Tree for DYM (if available)
TreeFam:
Gene Tree for DYM (if available)

Paralogs for DYM Gene

genes like me logo Genes that share paralogs with DYM: view

No data available for Paralogs for DYM Gene

Variants for DYM Gene

Sequence variations from dbSNP and Humsavar for DYM Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_022740 Smith-McCort dysplasia 1 (SMC1)
VAR_054499 Dyggve-Melchior-Clausen syndrome (DMC)
VAR_065293 Smith-McCort dysplasia 1 (SMC1)
rs485380 -- 49,317,272(-) TATGG(G/T)TGTAT intron-variant
rs487767 -- 49,291,622(-) AAACA(A/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DYM Gene

Variant ID Type Subtype PubMed ID
nsv2292 CNV Loss 18451855
nsv833646 CNV Gain 17160897
nsv909624 CNV Gain 21882294
nsv458067 CNV Loss 19166990
esv2661405 CNV Deletion 23128226
esv2543335 CNV Insertion 19546169
esv2717077 CNV Deletion 23290073
esv1452367 CNV Insertion 17803354
esv1577618 CNV Insertion 17803354
esv2717078 CNV Deletion 23290073
nsv909625 CNV Loss 21882294
nsv833649 CNV Loss 17160897
nsv458068 CNV Loss 19166990
nsv520341 CNV Loss 19592680
nsv522529 CNV Loss 19592680
nsv828227 CNV Loss 20364138
nsv2293 CNV Insertion 18451855
nsv522553 CNV Loss 19592680
esv2717079 CNV Deletion 23290073
esv2669820 CNV Deletion 23128226
esv2717080 CNV Deletion 23290073
esv2717081 CNV Deletion 23290073
esv2717082 CNV Deletion 23290073
esv1022137 CNV Insertion 17803354
esv1556786 CNV Insertion 17803354
esv2717083 CNV Deletion 23290073
esv2677151 CNV Deletion 23128226

Variation tolerance for DYM Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYM Gene

HapMap Linkage Disequilibrium report
DYM
Human Gene Mutation Database (HGMD)
DYM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYM Gene

Disorders for DYM Gene

MalaCards: The human disease database

(10) MalaCards diseases for DYM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
smith-mccort dysplasia
  • smith mccort dysplasia
dyggve-melchior-clausen disease
  • dyggve-melchior-clausen syndrome
epiphyseal chondrodysplasia, miura type
  • ecdm
osteochondrodysplasia
  • mucopolysaccharidosis iv
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
- elite association - COSMIC cancer census association via MalaCards
Search DYM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYM_HUMAN
  • Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]: A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests. {ECO:0000269 PubMed:12491225, ECO:0000269 PubMed:12554689}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Smith-McCort dysplasia 1 (SMC1) [MIM:607326]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. {ECO:0000269 PubMed:12491225, ECO:0000269 PubMed:19005420}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DYM

Genetic Association Database (GAD)
DYM
Human Genome Epidemiology (HuGE) Navigator
DYM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYM
genes like me logo Genes that share disorders with DYM: view

No data available for Genatlas for DYM Gene

Publications for DYM Gene

  1. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. (PMID: 18996921) Dimitrov A. … El Ghouzzi V. (Hum. Mol. Genet. 2009) 3 4 23 67
  2. Mental retardation and abnormal skeletal development (Dyggve- Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. (PMID: 12491225) Cohn D.H. … Rimoin D.L. (Am. J. Hum. Genet. 2003) 3 23
  3. Mutations in a novel gene dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. (PMID: 12554689) El Ghouzzi V. … Cormier-Daire V. (Hum. Mol. Genet. 2003) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. (PMID: 25652408) Dupuis N. … El Ghouzzi V. (Hum. Mol. Genet. 2015) 3

Products for DYM Gene

Sources for DYM Gene

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