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Protein Coding Gene : Dse dermatan sulfate epimerase

Primary Identifier  MGI:2443455 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  212898
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate biosynthetic process. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; endocrine gland; genitourinary system; and oral epithelium. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome musculocontractural type 2. Orthologous to human DSE (dermatan sulfate epimerase).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA B130024B19 gene,
  • dermatan sulfate epimerase,
  • DS-epi1,
  • AI480506,
  • B130024B19Rik,
  • Dse,
  • expressed sequence AI480506,
  • Sart2,
  • squamous cell carcinoma antigen recognized by T cells 2,
  • MGI:2143625

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For