DSE (dermatan sulfate epimerase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29940
Gene name Gene Name - the full gene name approved by the HGNC.
Dermatan sulfate epimerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DSE
Synonyms (NCBI Gene) Gene synonyms aliases
DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EDSMC2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes ca
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs398122361 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs550208733 G>A,T Conflicting-interpretations-of-pathogenicity Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554227382 A>G Pathogenic Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(219)
miRTarBase ID miRNA Experiments Reference
MIRT030964 hsa-miR-21-5p Microarray 18591254
MIRT613149 hsa-miR-6776-3p HITS-CLIP 23824327
MIRT668668 hsa-miR-1255b-2-3p HITS-CLIP 23824327
MIRT613148 hsa-miR-4310 HITS-CLIP 23824327
MIRT613147 hsa-miR-7157-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005783 Component Endoplasmic reticulum IDA 10679095
GO:0005794 Component Golgi apparatus IDA 10679095
GO:0015012 Process Heparan sulfate proteoglycan biosynthetic process IEA
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605942 21144 ENSG00000111817
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UL01
Protein name Dermatan-sulfate epimerase (DS epimerase) (EC 5.1.3.19) (Chondroitin-glucuronate 5-epimerase) (Squamous cell carcinoma antigen recognized by T-cells 2) (SART-2)
Protein function Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues. Plays an important role in the biosynthesis of the glycosaminoglycan/mucopolysaccharide dermatan sulfate. {ECO:0000269|PubMed:16505484, ECO:0000269|PubMed:19004833, ECO:0000269|PubM
PDB 6HZN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16332 DUF4962 120 → 355 Domain of unknown function (DUF4962) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other
Sequence 
MRTHTRGAPSVFFIYLLCFVSAYITDENPEVMIPFTNANYDSHPMLYFSRAEVAELQLRA
ASSHEHIAARLTEAVHTMLSSPLEYLPPWDPKDYSARWNEIFGNNLGALAMFCVLYPENI
EARDMAKDYMERMAAQPSWLVKDAPWDEVPLAHSLVGFATAYDFLYNYLSKTQQEKFLEV
IANASGYMYETSYRRGWGFQYLHNHQPTNCMALLTGSLVLMNQGYLQEAYLWTKQVLTIM
EKSLVLLREVTDGSLYEGVAYGSYTTRSLFQYMFLVQRHFNINHFGHPWLKQHFAFMYRT
ILPGFQRTVAIADSNYNWFYGPESQLVFLDKFVMRNGSGNWLADQIRRNRVVEGPGTPSK
GQRWCTLHTEFLWYDGSLKSVPPPDFGTPTLHYFEDWGVVTYGSALPAEINRSFLSFKSG
KLGGRAIYDIVHRNKYKDWIKGWRNFNAGHEHPDQNSFTFAPNGVPFITEALYGPKYTFF
NNVLMFSPAVSKSCFSPWVGQVTEDCSSKWSKYKHDLAASCQGRVVAAEEKNGVVFIRGE
GVGAYNPQLNLKNVQRNLILLHPQLLLLVDQIHLGEESPLETAASFFHNVDVPFEETVVD
GVHGAFIRQRDGLYKMYWMDDTGYSEKATFASVTYPRGYPYNGTNYVNVTMHLRSPITRA
AYLFIGPSIDVQSFTVHGDSQQLDVFIATSKHAYATYLWTGEATGQSAFAQVIADRHKIL
FDRNSAIKSSIVPEVKDYAAIVEQNLQHFKPVFQLLEKQILSRVRNTASFRKTAERLLRF
SDKRQTEEAIDRIFAISQQQQQQSKSKKNRRAGKRYKFVDAVPDIFAQIEVNEKKIRQKA
QILAQKELPIDEDEEMKDLLDFADVTYEKHKNGGLIKGRFGQARMVTTTHSRAPSLSASY
TRLFLILNIAIFFVMLAMQLTYFQRAQSLHGQRCLYAVLLIDSCILLWLYSSCSQSQC
Sequence length 958
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Metabolic pathways 		  Dermatan sulfate biosynthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Musculocontractural ehlers-danlos syndrome EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2, Musculocontractural Ehlers-Danlos syndrome rs121908257, rs121908258, rs267606729, rs267606730, rs267606731, rs1555410785, rs397514706, rs1555410768, rs1555410784, rs1247205097, rs1555410747, rs1566969054, rs1595869467, rs1595869602 23704329, 25703627
Mitral valve prolapse Mitral Valve Prolapse Syndrome rs768737101
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome, musculocontractural type GenCC
Ulcerative colitis Ulcerative colitis GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Otitis media Otitis media GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 38421723
Carcinoma Non Small Cell Lung Associate 33934493
Carcinoma Squamous Cell Associate 22350411
Colorectal Neoplasms Associate 11920522
Developmental Disabilities Associate 38421723
Ehlers Danlos Syndrome musculocontractural type 1 Associate 26373698, 32130795, 34815299
Gastrointestinal Diseases Associate 37239439
Nasal Polyps Associate 32047813
Neoplasms Associate 11092984, 11920522, 20929582