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Dse Gene Detail
Summary
  • Symbol
    Dse
  • Name
    dermatan sulfate epimerase
  • Synonyms
    B130024B19Rik, DS-epi1, Sart2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443455
    NCBI Gene: 212898
Location & Maps
more
  • Sequence Map
    Chr10:34151394-34207551 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      56158 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DSE, dermatan sulfate epimerase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    DSE, dermatan sulfate epimerase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DSEP, DSEPI, EDSMC2, SART2, SART-2
  • Links
    NCBI Gene ID: 29940
    neXtProt AC: NX_Q9UL01

  • Chr Location
    6q22; chr6:116280120-116443475 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human DSE associations

Human Disease Mouse Models
       Ehlers-Danlos Syndrome, Musculocontractural Type 2; EDSMC2   OMIM: 615539
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    123
  • Chemically induced (other)
    1
  • Gene trapped
    118
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Dse
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000039497 Ensembl Gene Model | MGI Sequence Detail 56158 C57BL/6J ±  kb
transcript ENSMUST00000048010 Ensembl | MGI Sequence Detail 4224 Not Applicable  
polypeptide ENSMUSP00000040074 Ensembl | MGI Sequence Detail 958 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    510 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    cDNA 41

    Microarray probesets 3
Other
Accession IDs
less
MGI:2143625
References
more
  • Summaries
    All 29
    Gene Ontology 2
    Phenotypes 16
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:225049 Bartolini B, et al., Iduronic acid in chondroitin/dermatan sulfate affects directional migration of aortic smooth muscle cells. PLoS One. 2013;8(7):e66704

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory