Gene Gene information from NCBI Gene database.
Entrez ID 92126
Gene name Dermatan sulfate epimerase like
Gene symbol DSEL
Synonyms (NCBI Gene)
C18orf4DE-epi2
Chromosome 18
Chromosome location 18q22.1
miRNA miRNA information provided by mirtarbase database.
821
miRTarBase ID miRNA Experiments Reference
MIRT022150 hsa-miR-124-3p Microarray 18668037
MIRT613142 hsa-miR-3133 HITS-CLIP 23824327
MIRT613141 hsa-miR-186-5p HITS-CLIP 23824327
MIRT613140 hsa-miR-6507-5p HITS-CLIP 23824327
MIRT242634 hsa-miR-8485 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0008146 Function Sulfotransferase activity IEA
GO:0016020 Component Membrane IEA
GO:0016853 Function Isomerase activity IEA
GO:0047757 Function Chondroitin-glucuronate 5-epimerase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611125 18144 ENSG00000171451
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZU8
Protein name Dermatan-sulfate epimerase-like protein (EC 5.1.-.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 852 1206 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in different brain areas as well as in multiple other peripheral tissues. {ECO:0000269|PubMed:12556911}.
Sequence
MALMFTGHLLFLALLMFAFSTFEESVSNYSEWAVFTDDIDQFKTQKVQDFRPNQKLKKSM
LHPSLYFDAGEIQAMRQKSRASHLHLFRAIRSAVTVMLSNPTYYLPPPKHADFAAKWNEI
YGNNLPPLALYCLLCPEDKVAFEFVLEYMDRMVGYKDWLVENAPGDEVPIGHSLTGFATA
FDFLYNLLDNHRRQKYLEKIWVITEEMYEYSKVRSWGKQLLHNHQATNMIALLTGALVTG
VDKGSKANIWKQAVVDVMEKTMFLLNHIVDGSLDEGVAYGSYTAKSVTQYVFLAQRHFNI
NNLDNNWLKMHFWFYYATLLPGFQRTVGIADSNYNWFYGPESQLVFLDKFILKNGAGNWL
AQQIRKHRPKDGPMVPSTAQRWSTLHTEYIWYDPQLTPQPPADYGTAKIHTFPNWGVVTY
GAGLPNTQTNTFVSFKSGKLGGRAVYDIVHFQPYSWIDGWRSFNPGHEHPDQNSFTFAPN
GQVFVSEALYGPKLSHLNNVLVFAPSPSSQCNKPWEGQLGECAQWLKWTGEEVGDAAGEI
ITASQHGEMVFVSGEAVSAYSSAMRLKSVYRALLLLNSQTLLVVDHIERQEDSPINSVSA
FFHNLDIDFKYIPYKFMNRYNGAMMDVWDAHYKMFWFDHHGNSPMASIQEAEQAAEFKKR
WTQFVNVTFQMEPTITRIAYVFYGPYINVSSCRFIDSSNPGLQISLNVNNTEHVVSIVTD
YHNLKTRFNYLGFGGFASVADQGQITRFGLGTQAIVKPVRHDRIIFPFGFKFNIAVGLIL
CISLVILTFQWRFYLSFRKLMRWILILVIALWFIELLDVWSTCSQPICAKWTRTEAEGSK
KSLSSEGHHMDLPDVVITSLPGSGAEILKQLFFNSSDFLYIRVPTAYIDIPETELEIDSF
VDACEWKVSDIRSGHFRLLRGWLQSLVQDTKLHLQNIHLHEPNRGKLAQYFAMNKDKKRK
FKRRESLPEQRSQMKGAFDRDAEYIRALRRHLVYYPSARPVLSLSSGSWTLKLHFFQEVL
GASMRALYIVRDPRAWIYSMLYNSKPSLYSLKNVPEHLAKLFKIEGGKGKCNLNSGYAFE
YEPLRKELSKSKSNAVSLLSHLWLANTAAALRINTDLLPTSYQLVKFEDIVHFPQKTTER
IFAFLGIPLSPASLNQILFATSTNLFYLPYEGEISPTNTNVWKQNLPRDEIKLIENICWT
LMDRLG
YPKFMD
Sequence length 1212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Metabolic pathways
  Dermatan sulfate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Congenital diaphragmatic hernia Congenital diaphragmatic hernia BEFREE 20358601
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 23727064
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 23727064
★☆☆☆☆
Found in Text Mining only
Microphthalmos Microphthalmos BEFREE 20358601
★☆☆☆☆
Found in Text Mining only