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Dym Gene Detail
Summary
  • Symbol
    Dym
  • Name
    dymeclin
  • Synonyms
    1810041M12Rik, 4933427L07Rik, C030019K18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918480
    NCBI Gene: 69190
  • Gene Overview
    MyGene.info: DYM
Location & Maps
more
  • Sequence Map
    Chr18:75018772-75286966 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      268195 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 50.97 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DYM, dymeclin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DYM, dymeclin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DMC, SMC
  • Links
    NCBI Gene ID: 54808
    neXtProt AC: NX_Q7RTS9

  • Chr Location
    18q21.1; chr18:49041474-49460709 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 69237
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: DYM
  • Gene Tree
    Dym
Human Diseases
more
  • Diseases
    2 with Dym mouse models; 2 with human DYM associations

Human Disease Mouse Models
       Dyggve-Melchior-Clausen Disease; DMC   OMIM: 223800 View 1 model
Smith-Mccort Dysplasia 1; SMC1   OMIM: 607326 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 1 allele in 1 genetic background
    5 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    142
  • Gene trapped
    141
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Dym
  • Incidental Mutations
Mice homozygous for a gene trapped allele display decreased body size with short tubular bones, chondrodysplasia, partial penetrance of obstructive hydronephrosis and impaired vesicular transport.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000035765 Ensembl Gene Model | MGI Sequence Detail 268195 C57BL/6J ±  kb
transcript ENSMUST00000039608 Ensembl | MGI Sequence Detail 2471 Not Applicable  
polypeptide ENSMUSP00000047054 Ensembl | MGI Sequence Detail 669 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2357 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 89
    cDNA 89

    Microarray probesets 5
Other
Accession IDs
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MGI:1916440, MGI:1924708
References
more
  • Summaries
    All 32
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 3
    Phenotypes 10
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:220989 Dupuis N, et al., Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. Hum Mol Genet. 2015 May 15;24(10):2771-83

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory