Aliases for DSEL Gene

Aliases for DSEL Gene

  • Dermatan Sulfate Epimerase Like 2 3 5
  • NCAG1 2 3 4
  • Dermatan-Sulfate Epimerase-Like Protein 3 4
  • C18orf4 3 4
  • DE-Epi2 2 3
  • Chromosome 18 Open Reading Frame 4 2
  • Dermatan Sulfate Epimerase-Like 2
  • EC 5.1.-.- 4
  • FLJ11477 2
  • DSEL 5

External Ids for DSEL Gene

Previous HGNC Symbols for DSEL Gene

  • C18orf4

Previous GeneCards Identifiers for DSEL Gene

  • GC18M063325
  • GC18M065173
  • GC18M061894

Summaries for DSEL Gene

GeneCards Summary for DSEL Gene

DSEL (Dermatan Sulfate Epimerase Like) is a Protein Coding gene. Diseases associated with DSEL include Temtamy Preaxial Brachydactyly Syndrome and Microphthalmia. Among its related pathways are Metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and isomerase activity. An important paralog of this gene is DSE.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSEL Gene

Genomics for DSEL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DSEL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J067514 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 742 4.4 GATAD2A CTCF POLR2A REST SP1 ZNF501 EZH2 CEBPA SCRT2 SP2 DSEL LOC643542 ENSG00000260578 ENSG00000263424 CDH19
GH18J067425 Enhancer 0.8 Ensembl ENCODE 9.7 +90.8 90819 1.8 CREB1 ATF7 JUND CEBPB FOS JUN DEK NFYA NFYB EP300 DSEL piR-60246-081 ENSG00000265936 CDH19
GH18J067620 Enhancer 0.6 ENCODE 10.2 -104.9 -104906 2.1 REST SP1 YY1 GABPA JUND RAD21 HNF4A RXRA MAX HNF4G DSEL LOC105372174 piR-39341-175 LOC643542
GH18J067217 Enhancer 0.5 ENCODE 10.8 +298.9 298941 0.2 CTCF REST RAD21 TRIM22 RUNX3 SMC3 DEK ZNF654 YY1 DSEL piR-42613-040 piR-40497-027 CDH19
GH18J067232 Enhancer 0.6 Ensembl ENCODE 10.3 +284.1 284119 2.4 JUN NANOG POU5F1 DSEL piR-42613-040 piR-40497-027 CDH19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSEL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSEL

Top Transcription factor binding sites by QIAGEN in the DSEL gene promoter:
  • aMEF-2
  • Chx10
  • CUTL1
  • HNF-1
  • HNF-1A
  • Lhx3a
  • LHX3b
  • Sox5

Genomic Locations for DSEL Gene

Genomic Locations for DSEL Gene
chr18:67,506,587-67,516,720
(GRCh38/hg38)
Size:
10,134 bases
Orientation:
Minus strand
chr18:65,173,819-65,184,217
(GRCh37/hg19)
Size:
10,399 bases
Orientation:
Minus strand

Genomic View for DSEL Gene

Genes around DSEL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSEL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSEL Gene

Proteins for DSEL Gene

  • Protein details for DSEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZU8-DSEL_HUMAN
    Recommended name:
    Dermatan-sulfate epimerase-like protein
    Protein Accession:
    Q8IZU8
    Secondary Accessions:
    • Q17RH1
    • Q6P5Z3

    Protein attributes for DSEL Gene

    Size:
    1212 amino acids
    Molecular mass:
    139238 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI17326.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAN32895.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DSEL Gene

Post-translational modifications for DSEL Gene

  • Glycosylation at Asn28, Asn666, Asn688, Asn709, and Asn874
  • Modification sites at PhosphoSitePlus

Other Protein References for DSEL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSEL Gene

Domains & Families for DSEL Gene

Gene Families for DSEL Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DSEL Gene

Suggested Antigen Peptide Sequences for DSEL Gene

GenScript: Design optimal peptide antigens:
  • Dermatan-sulfate epimerase-like protein (DSEL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZU8

UniProtKB/Swiss-Prot:

DSEL_HUMAN :
  • Belongs to the dermatan-sulfate isomerase family.
Family:
  • Belongs to the dermatan-sulfate isomerase family.
genes like me logo Genes that share domains with DSEL: view

Function for DSEL Gene

Enzyme Numbers (IUBMB) for DSEL Gene

Phenotypes From GWAS Catalog for DSEL Gene

Gene Ontology (GO) - Molecular Function for DSEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008146 sulfotransferase activity IEA --
GO:0016853 isomerase activity IEA --
GO:0047757 chondroitin-glucuronate 5-epimerase activity IBA 21873635
genes like me logo Genes that share ontologies with DSEL: view
genes like me logo Genes that share phenotypes with DSEL: view

Animal Models for DSEL Gene

MGI Knock Outs for DSEL:
  • Dsel Dsel<tm1Mmac>

Animal Model Products

CRISPR Products

miRNA for DSEL Gene

miRTarBase miRNAs that target DSEL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSEL

No data available for Molecular function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DSEL Gene

Localization for DSEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSEL Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSEL gene
Compartment Confidence
golgi apparatus 4
plasma membrane 1
extracellular 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DSEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSEL: view

Pathways & Interactions for DSEL Gene

genes like me logo Genes that share pathways with DSEL: view

Interacting Proteins for DSEL Gene

Gene Ontology (GO) - Biological Process for DSEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030204 chondroitin sulfate metabolic process IBA 21873635
GO:0030205 dermatan sulfate metabolic process IBA 21873635
GO:0030208 dermatan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with DSEL: view

No data available for SIGNOR curated interactions for DSEL Gene

Drugs & Compounds for DSEL Gene

No Compound Related Data Available

Transcripts for DSEL Gene

mRNA/cDNA for DSEL Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSEL

Alternative Splicing Database (ASD) splice patterns (SP) for DSEL Gene

No ASD Table

Relevant External Links for DSEL Gene

GeneLoc Exon Structure for
DSEL

Expression for DSEL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSEL Gene

Protein differential expression in normal tissues from HIPED for DSEL Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DSEL Gene



Protein tissue co-expression partners for DSEL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSEL

SOURCE GeneReport for Unigene cluster for DSEL Gene:

Hs.124673

mRNA Expression by UniProt/SwissProt for DSEL Gene:

Q8IZU8-DSEL_HUMAN
Tissue specificity: Expressed in different brain areas as well as in multiple other peripheral tissues.

Evidence on tissue expression from TISSUES for DSEL Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with DSEL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSEL Gene

Orthologs for DSEL Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSEL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DSEL 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DSEL 30 31
  • 92.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dsel 30 17 31
  • 88.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dsel 30
  • 88.01 (n)
Cow
(Bos Taurus)
Mammalia DSEL 30 31
  • 86.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DSEL 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DSEL 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DSEL 30 31
  • 76.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DSEL 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dsel 30
  • 70.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii dsela 30 31
  • 62.78 (n)
OneToMany
DSEL (2 of 2) 31
  • 62 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for DSEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DSEL Gene

ENSEMBL:
Gene Tree for DSEL (if available)
TreeFam:
Gene Tree for DSEL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSEL: view image

Paralogs for DSEL Gene

Paralogs for DSEL Gene

(1) SIMAP similar genes for DSEL Gene using alignment to 1 proteins:

  • DSEL_HUMAN
genes like me logo Genes that share paralogs with DSEL: view

Variants for DSEL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSEL Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
719335 Likely Benign: not provided 67,512,420(-) T/C MISSENSE_VARIANT
783071 Benign: not provided 67,511,785(-) G/A MISSENSE_VARIANT
rs1555694473 Uncertain Significance: not provided 67,513,621(-) C/CTATACCCACAGTT FRAMESHIFT_VARIANT
VAR_036528 A colorectal cancer sample p.Lys1090Glu
rs12953840 - p.Tyr730Cys

Additional dbSNP identifiers (rs#s) for DSEL Gene

Structural Variations from Database of Genomic Variants (DGV) for DSEL Gene

Variant ID Type Subtype PubMed ID
dgv3383n100 CNV gain 25217958
esv3642903 CNV gain 21293372
nsv1057236 CNV loss 25217958
nsv458102 CNV loss 19166990
nsv577157 CNV loss 21841781
nsv577302 CNV loss 21841781
nsv577311 CNV loss 21841781
nsv577312 CNV loss 21841781

Variation tolerance for DSEL Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.69; 91.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSEL Gene

Human Gene Mutation Database (HGMD)
DSEL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSEL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSEL Gene

Disorders for DSEL Gene

MalaCards: The human disease database

(3) MalaCards diseases for DSEL Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DSEL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DSEL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DSEL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DSEL Gene

Publications for DSEL Gene

  1. Genome-wide association study of recurrent early-onset major depressive disorder. (PMID: 20125088) Shi J … Levinson DF (Molecular psychiatry 2011) 3 41
  2. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need AC … Goldstein DB (Human molecular genetics 2009) 3 41
  3. Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate. (PMID: 19188366) Pacheco B … Maccarana M (The Journal of biological chemistry 2009) 2 3
  4. Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5-epimerase is identical to SART2. (PMID: 16505484) Maccarana M … Malmström A (The Journal of biological chemistry 2006) 2 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DSEL Gene

Sources for DSEL Gene