Dse MGI Mouse Gene Detail - MGI:2443455 - dermatan sulfate epimerase

Symbol

Dse
Name

dermatan sulfate epimerase
Synonyms

B130024B19Rik, DS-epi1, Sart2

Feature Type

protein coding gene
IDs

MGI:2443455
NCBI Gene: 212898
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr10:34027389-34083711 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 18.85 cM
Mapping Data

2 experiments

SNPs within 2kb

1760 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443455	protein coding gene	Chr10:34027385-34084267 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017137	protein coding gene	Chr10:32489675-32547702 (-)
A/J	MGP_AJ_G0017114	protein coding gene	Chr10:31637964-31698610 (-)
AKR/J	MGP_AKRJ_G0017074	protein coding gene	Chr10:32007079-32064405 (-)
BALB/cJ	MGP_BALBcJ_G0017077	protein coding gene	Chr10:31585627-31642194 (-)
C3H/HeJ	MGP_C3HHeJ_G0016897	protein coding gene	Chr10:32305051-32362355 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017535	protein coding gene	Chr10:33417773-33475069 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015232	protein coding gene	Chr10:29977922-30033027 (-)
CAST/EiJ	MGP_CASTEiJ_G0016476	protein coding gene	Chr10:32429298-32492201 (-)
CBA/J	MGP_CBAJ_G0016871	protein coding gene	Chr10:35035391-35091815 (-)
DBA/2J	MGP_DBA2J_G0016976	protein coding gene	Chr10:31218209-31274626 (-)
FVB/NJ	MGP_FVBNJ_G0016971	protein coding gene	Chr10:30722545-30779101 (-)
LP/J	MGP_LPJ_G0017053	protein coding gene	Chr10:32482734-32540827 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017001	protein coding gene	Chr10:35518906-35580114 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017571	protein coding gene	Chr10:31959920-32018143 (-)
PWK/PhJ	MGP_PWKPhJ_G0016257	protein coding gene	Chr10:30979642-31037686 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016041	protein coding gene	Chr10:31837306-31897502 (-)
WSB/EiJ	MGP_WSBEiJ_G0016539	protein coding gene	Chr10:32169392-32232486 (-)

Human Ortholog

DSE, dermatan sulfate epimerase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DSE, dermatan sulfate epimerase
Synonyms

DSEP, DSEPI, DS-epi1, EDSMC2, SART-2, SART2
Links

HGNC:21144

NCBI Gene ID: 29940

neXtProt AC: NX_Q9UL01

UniProt: Q9UL01
Chr Location

6q22.1; chr6:116254171-116444861 (+) GRCh38

MGI Vertebrate Homology

Dse stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DSE
Gene Tree

Dse

Diseases

1 with human DSE associations

				Human Disease	Mouse Models
				Ehlers-Danlos syndrome musculocontractural type 2 IDs Ehlers-Danlos syndrome musculocontractural type 2 DOID:0080737 OMIM:615539

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
23 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

104
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

96
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Dse
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

105 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology.

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All GO Annotations

16
GO References

8

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

745
Tissues

28
cDNA Data

42
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dse

ZFIN dse

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All Sequences

62
RefSeq

12
UniProt

3
CCDS

CCDS23776.1

Ensembl

ENSMUSG00000039497 (Evidence)
NCBI Gene

212898

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039497	Ensembl Gene Model \| MGI Sequence Detail	56323	C57BL/6J	± kb
transcript	ENSMUST00000048010	Ensembl \| MGI Sequence Detail	4389	Not Applicable
polypeptide	ENSMUSP00000040074	Ensembl \| MGI Sequence Detail	958	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000006704 dermatan-sulfate epimerase

(term hierarchy)
EC

5.1.3.19
InterPro Domains

IPR008929 Chondroitin AC/alginate lyase

IPR052447 Dermatan-Sulfate Isomerase

IPR032518 Heparinase II, N-terminal
GlyGen

Q8BLI4 5 sites

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All nucleic 42

cDNA 42

Microarray probesets 3

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MGI:2143625

Summaries

All 50

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 23
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Dse:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr97271	Chr10:34084290-34084317 (-)	-593 bp
Tssr97270	Chr10:34084247-34084272 (-)	-549 bp
Tssr97269	Chr10:34083823-34083845 (-)	-123 bp
Tssr97268	Chr10:34083570-34083585 (-)	133 bp
Tssr97267	Chr10:34083482-34083507 (-)	216 bp
Tssr97266	Chr10:34083419-34083476 (-)	263 bp
Tssr97265	Chr10:34083197-34083261 (-)	482 bp
Tssr97264	Chr10:34083173-34083196 (-)	526 bp
Tssr97263	Chr10:34073759-34073764 (-)	9,949 bp
Tssr97262	Chr10:34062481-34062492 (-)	21,224 bp
Tssr97260	Chr10:34027908-34027912 (-)	55,801 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24