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Aliases for DYM Gene

Aliases for DYM Gene

  • Dymeclin 2 3 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

Enhancers for DYM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18F048871 1.6 FANTOM5 Ensembl ENCODE 12.3 +587.9 587946 3.2 ZFP64 ZNF493 SIN3A FEZF1 ZNF48 ZNF121 GLIS2 KLF7 ZNF548 FOS RPL17 ENSG00000264269 LOC105372107 ENSG00000265128 ENSG00000263895 LOC101928144 SRP72P1 LOC105372111 DYM CTIF
GH18F049020 1.3 Ensembl ENCODE 12.9 +440.1 440149 3.1 HDGF ZNF493 ZNF133 ARID4B SIN3A GLI4 YBX1 ZNF48 BRCA1 ZNF2 RPL17 DYM ENSG00000264269 LOC105372109
GH18F050372 1.3 Ensembl ENCODE 12.3 -913.1 -913053 3.3 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF263 SP3 SP5 SMAD4 DYM RPL17 MEX3C SKA1 LOC105372114 RNA5SP458
GH18F049398 0.8 Ensembl ENCODE 17.1 +61.7 61747 2.8 POLR2A SCRT2 IKZF1 EED DYM ENSG00000263895 PIR34022
GH18F049485 1.2 ENCODE 11.3 -28.5 -28519 8.4 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 C18orf32 RPL17 DYM ACAA2 ENSG00000252139 SCARNA17 LIPG MIR1539 GC18M049490 GC18M049507
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DYM on UCSC Golden Path with GeneCards custom track

Promoters for DYM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114145 947 2001 PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF302 ZNF207

Genomic Location for DYM Gene

49,041,474 bp from pter
49,461,347 bp from pter
419,874 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K5I8
    • B2RCF9
    • B4DKI7
    • Q3ZTS8
    • Q6P2P5
    • Q8N2M0
    • Q9BVE9
    • Q9NPU7

    Protein attributes for DYM Gene

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

    Alternative splice isoforms for DYM Gene


neXtProt entry for DYM Gene

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

No data available for DME Specific Peptides for DYM Gene

Domains & Families for DYM Gene

Protein Domains for DYM Gene


Suggested Antigen Peptide Sequences for DYM Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dymeclin 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:0005515 protein binding IPI 21280149
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

Inhibitory RNA Products

Flow Cytometry 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYM gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
cytosol 3
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21280149
GO:0005794 Golgi apparatus IEA,IDA 21280149
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DYM: view

Pathways & Interactions for DYM Gene

No Data Available

Interacting Proteins for DYM Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: Q7RTS9-DYM_HUMAN ENSP00000269445 for DYM Gene via IID STRING

Gene Ontology (GO) - Biological Process for DYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 21280149
GO:0060348 bone development 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

Transcripts for DYM Gene

Unigene Clusters for DYM Gene

Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DYM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DYM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DYM Gene

Protein tissue co-expression partners for DYM Gene

NURSA nuclear receptor signaling pathways regulating expression of DYM Gene:


SOURCE GeneReport for Unigene cluster for DYM Gene:


mRNA Expression by UniProt/SwissProt for DYM Gene:

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

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
(Pan troglodytes)
Mammalia DYM 34 35
  • 99.75 (n)
(Bos Taurus)
Mammalia DYM 34 35
  • 92.38 (n)
(Canis familiaris)
Mammalia DYM 34 35
  • 91.43 (n)
(Monodelphis domestica)
Mammalia DYM 35
  • 91 (a)
(Mus musculus)
Mammalia Dym 34 16 35
  • 86.2 (n)
(Rattus norvegicus)
Mammalia Dym 34
  • 84.26 (n)
(Ornithorhynchus anatinus)
Mammalia DYM 35
  • 70 (a)
(Gallus gallus)
Aves DYM 34 35
  • 78.79 (n)
(Anolis carolinensis)
Reptilia DYM 35
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dym 34
  • 72.36 (n)
Str.16119 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33862 34
(Danio rerio)
Actinopterygii dym 34 35
  • 65.97 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6709 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009765 34
  • 52.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8230 34 35
  • 50.41 (n)
(Caenorhabditis elegans)
Secernentea C47D12.2 34 35
  • 49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04200 34
  • 44.69 (n)
(Oryza sativa)
Liliopsida Os01g0773100 34
  • 46.58 (n)
Species where no ortholog for DYM was found in the sources mined by GeneCards:
  • 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

Gene Tree for DYM (if available)
Gene Tree for DYM (if available)

Paralogs for DYM Gene

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
rs120074163 Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800], Pathogenic 49,257,065(-) TAGCA(A/T)ATATG reference, missense
rs120074164 Smith-McCort dysplasia 1 (SMC1) [MIM:607326], Pathogenic 49,379,693(-) CCAAA(A/G)AACTA reference, missense
rs120074165 Smith-McCort dysplasia 1 (SMC1) [MIM:607326], Pathogenic 49,118,866(-) ACTCC(C/T)GCCTG intron-variant, reference, missense
rs120074161 Pathogenic 49,430,347(-) GAGTA(C/G/T)TTGAA reference, synonymous-codon, stop-gained, utr-variant-5-prime
rs120074162 Pathogenic 49,378,592(-) ACTTA(A/T)GAAGA reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv978628 CNV duplication 23825009
nsv954137 CNV deletion 24416366
nsv953538 CNV duplication 24416366
nsv833649 CNV loss 17160897
nsv833646 CNV gain 17160897
nsv828227 CNV loss 20364138
nsv576861 CNV loss 21841781
nsv576860 CNV loss 21841781
nsv522553 CNV loss 19592680
nsv522529 CNV loss 19592680
nsv520341 CNV loss 19592680
nsv513496 CNV insertion 21212237
nsv458068 CNV loss 19166990
nsv458067 CNV loss 19166990
nsv2293 CNV insertion 18451855
nsv2292 CNV deletion 18451855
nsv1142917 CNV tandem duplication 24896259
nsv1125324 CNV deletion 24896259
nsv1123176 CNV deletion 24896259
nsv1072802 CNV deletion 25765185
nsv1055175 CNV gain 25217958
esv3642493 CNV loss 21293372
esv3642490 CNV loss 21293372
esv3642486 CNV loss 21293372
esv3583051 CNV loss 25503493
esv3583045 CNV loss 25503493
esv3583044 CNV loss 25503493
esv3555364 CNV deletion 23714750
esv3360803 CNV duplication 20981092
esv2717083 CNV deletion 23290073
esv2717082 CNV deletion 23290073
esv2717081 CNV deletion 23290073
esv2717080 CNV deletion 23290073
esv2717079 CNV deletion 23290073
esv2717078 CNV deletion 23290073
esv2717077 CNV deletion 23290073
esv2677151 CNV deletion 23128226
esv2669820 CNV deletion 23128226
esv2661405 CNV deletion 23128226
esv2543335 CNV insertion 19546169
esv1577618 CNV insertion 17803354
esv1556786 CNV insertion 17803354
esv1452367 CNV insertion 17803354
esv1022137 CNV insertion 17803354
dgv985e212 CNV loss 25503493
dgv1599n106 CNV deletion 24896259
dgv1598n106 CNV tandem duplication 24896259

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for DYM Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
smith-mccort dysplasia
  • smith mccort dysplasia
dyggve-melchior-clausen disease
  • dyggve-melchior-clausen syndrome
  • cartilage development disorder
rectal prolapse
  • procidentia, rectum
- elite association - COSMIC cancer census association via MalaCards
Search DYM in MalaCards View complete list of genes associated with diseases


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  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 4 22 64
  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 4 22 64
  4. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PMID: 22021425) Carty C.L. … Kooperberg C. (Hum. Mol. Genet. 2012) 3 46 64
  5. 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. (PMID: 21280149) Denais C. … Machado R.D. (Hum. Mutat. 2011) 3 4 64

Products for DYM Gene

Sources for DYM Gene

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