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 shu... See more...

Aliases for DYM Gene

Aliases for DYM Gene

  • Dymeclin 2 3 4 5
  • Dyggve-Melchior-Clausen Syndrome Protein 3 4
  • DMC 2 3
  • SMC 2 3
  • FLJ20071 2
  • DYM 5

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 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]

GeneCards Summary for DYM Gene

DYM (Dymeclin) is a Protein Coding gene. Diseases associated with DYM include Smith-Mccort Dysplasia 1 and Dyggve-Melchior-Clausen Disease. Gene Ontology (GO) annotations related to this gene include binding and enzyme binding.

UniProtKB/Swiss-Prot Summary for DYM Gene

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

Gene Wiki entry for DYM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYM Gene

Genomics for DYM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYM Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J049459 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.4 +1.2 1246 2.6 GATAD2A ZNF629 PRDM10 TFE3 SIX5 KDM1A ZNF692 POLR2A RCOR2 ZNF174 DYM lnc-C18orf32-2 MBD1 RPL17 CXXC1 piR-33422-192 SMAD7
GH18J049258 Promoter 0.3 EPDnew 600.1 +202.9 202891 0.1 DYM piR-41023 piR-59769-294 SMAD7
GH18J049485 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -28.5 -28489 8.5 BRCA1 ARHGAP35 SP1 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 C18orf32 SNORD58A SNORD58B SNORD58C RPL17 piR-33856 piR-33879 piR-43849-004 piR-61298 CXXC1
GH18J049810 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -351.5 -351520 4.7 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 ZNF692 POLR2A JUND PRDM1 ZNF143 ACAA2 ENSG00000252139 SNHG22 SCARNA17 RPL17 CXXC1 DYM piR-56759-253 ENSG00000266997 LIPG
GH18J049161 Enhancer 1 Ensembl ENCODE 14.9 +299.2 299197 1.7 SP1 BACH1 STAT3 JUND RELA RAD21 TCF12 IKZF2 RCOR1 TRIM22 piR-52079-086 DYM ENSG00000265128 SMAD7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYM

Top Transcription factor binding sites by QIAGEN in the DYM gene promoter:
  • AREB6
  • ATF
  • CREB
  • deltaCREB
  • FAC1
  • GR
  • GR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for DYM Gene

Genomic Locations for DYM Gene
424,961 bases
Minus strand
417,679 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 Lys498 and Lys608
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DYM Gene

Domains & Families for DYM Gene

Gene Families for DYM Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DYM Gene


Suggested Antigen Peptide Sequences for DYM Gene

GenScript: Design optimal peptide antigens:
  • Dymeclin (A5XEI3_HUMAN)
  • Dyggve-Melchior-Clausen syndrome protein (DYM_HUMAN)
  • Dymeclin, isoform CRA_a (Q9NXS9_HUMAN)

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

Function for DYM Gene

Molecular function for DYM Gene

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

Phenotypes From GWAS Catalog for DYM Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYM

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
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

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 IBA,IDA 21280149
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DYM: view

Pathways & Interactions for DYM Gene

PathCards logo

SuperPathways for DYM Gene

No Data Available

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

Drugs & Compounds for DYM Gene

No Compound Related Data Available

Transcripts for DYM Gene

mRNA/cDNA for DYM Gene

15 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYM

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

No ASD Table

Relevant External Links for DYM Gene

GeneLoc Exon Structure for

Expression for DYM Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYM

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.

Evidence on tissue expression from TISSUES for DYM Gene

  • Nervous system(4.9)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DYM: view

No data available for 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 30 31
  • 99.75 (n)
(Bos Taurus)
Mammalia DYM 30 31
  • 92.38 (n)
(Canis familiaris)
Mammalia DYM 30 31
  • 91.43 (n)
(Monodelphis domestica)
Mammalia DYM 31
  • 91 (a)
(Mus musculus)
Mammalia Dym 30 17 31
  • 86.2 (n)
(Rattus norvegicus)
Mammalia Dym 30
  • 84.26 (n)
(Ornithorhynchus anatinus)
Mammalia DYM 31
  • 70 (a)
(Gallus gallus)
Aves DYM 30 31
  • 78.79 (n)
(Anolis carolinensis)
Reptilia DYM 31
  • 81 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dym 30
  • 72.36 (n)
Str.16119 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33862 30
(Danio rerio)
Actinopterygii dym 30 31
  • 65.97 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6709 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009765 30
  • 52.38 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG8230 30 31
  • 50.41 (n)
(Caenorhabditis elegans)
Secernentea C47D12.2 30 31
  • 49 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G04200 30
  • 44.69 (n)
(Oryza sativa)
Liliopsida Os01g0773100 30
  • 46.58 (n)
Species where no ortholog for DYM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for DYM: view image

Paralogs for DYM Gene

(19) SIMAP similar genes for DYM Gene using alignment to 13 proteins:

  • E9PG80_HUMAN
  • J3QR81_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYM Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
726072 Likely Benign: not provided 49,331,973(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
726259 Conflicting Interpretations: Dyggve-Melchior-Clausen syndrome; Smith-McCort dysplasia 1; not provided 49,163,795(-) A/C
744256 Likely Benign: not provided 49,272,199(-) G/A SYNONYMOUS_VARIANT
747266 Likely Benign: not provided 49,282,147(-) T/G SYNONYMOUS_VARIANT
749083 Likely Benign: not provided 49,333,844(-) T/G SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DYM Gene

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

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

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)

Additional Variant Information for DYM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DYM Gene

MalaCards: The human disease database

(15) MalaCards diseases for DYM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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, ECO:0000269 PubMed:18996921}. 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:18996921, ECO:0000269 PubMed:19005420}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DYM

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Human molecular genetics 2009) 3 4 23
  2. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. (PMID: 12491225) Cohn DH … Rimoin DL (American journal of human genetics 2003) 3 4 23
  3. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. (PMID: 12554689) El Ghouzzi V … Cormier-Daire V (Human molecular genetics 2003) 3 4 23
  4. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PMID: 22021425) Carty CL … Kooperberg C (Human molecular genetics 2012) 3 41
  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 RD (Human mutation 2011) 3 4

Products for DYM Gene

Sources for DYM Gene