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EPYC Gene(Protein Coding)

Epiphycan

GCID:
GC12M090963
GIFtS:
46
Genes Participants
UDN Logo

Aliases for EPYC Gene

Aliases for EPYC Gene

  • Epiphycan 2 3 3 5
  • Dermatan Sulfate Proteoglycan 3 2 3 4
  • Small Chondroitin/Dermatan Sulfate Proteoglycan 3 4
  • Epiphycan Proteoglycan 2 3
  • Proteoglycan-Lb 3 4
  • SLRR3B 3 4
  • Pg-Lb 3 4
  • DSPG3 3 4
  • PGLB 3 4
  • Dermatan Sulphate Proteoglycan 3 2

External Ids for EPYC Gene

Previous HGNC Symbols for EPYC Gene

  • DSPG3

Previous GeneCards Identifiers for EPYC Gene

  • GC12M089881
  • GC12M091357
  • GC12M088425

Summaries for EPYC Gene

Entrez Gene Summary for EPYC Gene

  • Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPYC Gene

EPYC (Epiphycan) is a Protein Coding gene. Diseases associated with EPYC include Cornea Plana and Corneal Dystrophy, Posterior Amorphous. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include glycosaminoglycan binding. An important paralog of this gene is OPTC.

UniProtKB/Swiss-Prot for EPYC Gene

  • May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization.

Additional gene information for EPYC Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPYC Gene

Genomics for EPYC Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPYC Gene

Promoters and enhancers for EPYC 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
GH12I091009 Enhancer 0.7 ENCODE 550.8 -1.6 -1593 0.2 SMAD1 JUN EBF1 BMI1 BATF IRF4 RELA ATF7 ETV6 IKZF2 EPYC KERA
GH12I091004 Promoter 0.5 EPDnew 550.8 +2.9 2914 0.1 EPYC CCER1
GH12I091098 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 -91.3 -91280 1.9 SMARCC1 CEBPB EP300 ATF2 GATA3 JUND POLR2A STAT3 ATF7 FOS KERA EPYC LUM GC12P091066
GH12I090978 Enhancer 0.3 ENCODE 11.3 +27.9 27928 2.6 CTCF KERA LUM EPYC CCER1
GH12I091036 Enhancer 0.2 ENCODE 11.5 -29.7 -29736 2 KERA EPYC DCN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPYC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPYC gene promoter:

Genomic Locations for EPYC Gene

Genomic Locations for EPYC Gene
chr12:90,963,679-91,007,906
(GRCh38/hg38)
Size:
44,228 bases
Orientation:
Minus strand
chr12:91,357,456-91,398,803
(GRCh37/hg19)

Genomic View for EPYC Gene

Genes around EPYC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EPYC Gene

Proteins for EPYC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q99645-EPYC_HUMAN
    Recommended name:
    Epiphycan
    Protein Accession:
    Q99645
    Secondary Accessions:
    • A8K3M7
    • Q8NEJ5

    Protein attributes for EPYC Gene

    Size:
    322 amino acids
    Molecular mass:
    36637 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EPYC Gene

Protein Expression for EPYC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EPYC Gene

  • The O-linked polysaccharides on Thr-60 and Ser-96 are probably the mucin type linked to GalNAc. There is one glycosaminoglycan chain, known to be dermatan sulfate, and it is probably the O-glycosylation at Ser-64 (By similarity).
  • Glycosylation at Thr60, posLast=6464, posLast=9696, posLast=283283, and posLast=302302
  • Modification sites at PhosphoSitePlus

Other Protein References for EPYC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPYC Gene

Domains & Families for EPYC Gene

Gene Families for EPYC Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for EPYC Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPYC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99645

UniProtKB/Swiss-Prot:

EPYC_HUMAN :
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
genes like me logo Genes that share domains with EPYC: view

Function for EPYC Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EPYC Gene

UniProtKB/Swiss-Prot Function:
May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization.

Phenotypes From GWAS Catalog for EPYC Gene

Gene Ontology (GO) - Molecular Function for EPYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005539 glycosaminoglycan binding TAS 8975717
genes like me logo Genes that share ontologies with EPYC: view
genes like me logo Genes that share phenotypes with EPYC: view

Animal Models for EPYC Gene

MGI Knock Outs for EPYC:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPYC

CRISPR Products

miRNA for EPYC Gene

miRTarBase miRNAs that target EPYC

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPYC Gene

Localization for EPYC Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPYC Gene

Secreted, extracellular space, extracellular matrix.

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 EPYC gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for EPYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IBA --
GO:0005615 extracellular space IBA --
genes like me logo Genes that share ontologies with EPYC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPYC Gene

Pathways & Interactions for EPYC Gene

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

Pathways by source for EPYC Gene

Gene Ontology (GO) - Biological Process for EPYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007409 axonogenesis IBA --
GO:0007565 female pregnancy TAS 8975717
genes like me logo Genes that share ontologies with EPYC: view

No data available for SIGNOR curated interactions for EPYC Gene

Drugs & Compounds for EPYC Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for EPYC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EPYC Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(43) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPYC Gene

Epiphycan:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2:

Relevant External Links for EPYC Gene

GeneLoc Exon Structure for
EPYC
ECgene alternative splicing isoforms for
EPYC

Expression for EPYC Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for EPYC Gene
mRNA expression by BioGPS for EPYC GenemRNA expression by GTEx for EPYC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPYC Gene

This gene is overexpressed in Ovary (x6.4), Adipose - Visceral (Omentum) (x5.7), and Prostate (x5.5).

Protein differential expression in normal tissues from HIPED for EPYC Gene

This gene is overexpressed in Fetal heart (69.0).

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



Protein tissue co-expression partners for EPYC Gene

NURSA nuclear receptor signaling pathways regulating expression of EPYC Gene:

EPYC

SOURCE GeneReport for Unigene cluster for EPYC Gene:

Hs.435680

mRNA Expression by UniProt/SwissProt for EPYC Gene:

Q99645-EPYC_HUMAN
Tissue specificity: Cartilage, ligament, and placenta.
genes like me logo Genes that share expression patterns with EPYC: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPYC Gene

Orthologs for EPYC Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPYC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EPYC 33 34
  • 99.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPYC 34
  • 91 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia EPYC 33 34
  • 90.65 (n)
dog
(Canis familiaris)
 Mammalia EPYC 34 33
  • 89.79 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Epyc 33 16 34
  • 83.95 (n)
rat
(Rattus norvegicus)
 Mammalia Epyc 33
  • 83.95 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia EPYC 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EPYC 34 33
  • 70.48 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPYC 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia epyc 33
  • 68.99 (n)
zebrafish
(Danio rerio)
 Actinopterygii epyc 34
  • 21 (a)
 OneToOne
Species where no ortholog for EPYC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 EPYC Gene

ENSEMBL:
Gene Tree for EPYC (if available)
TreeFam:
Gene Tree for EPYC (if available)

Paralogs for EPYC Gene

Paralogs for EPYC Gene

(2) SIMAP similar genes for EPYC Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EPYC: view

Variants for EPYC Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EPYC Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000016109 -- 91,005,926(-) G/A upstream_transcript_variant
rs1000018505 -- 90,985,058(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000049067 -- 90,997,238(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000093996 -- 91,003,020(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000149450 -- 91,003,327(-) A/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv832483 CNV gain 17160897

Variation tolerance for EPYC Gene

Residual Variation Intolerance Score: 59.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.91; 59.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPYC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EPYC Gene

MalaCards: The human disease database

(4) MalaCards diseases for EPYC Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornea plana
  • flat cornea
corneal dystrophy, posterior amorphous
  • pacd
stromal dystrophy
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards
Search EPYC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPYC

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

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

Publications for EPYC Gene

  1. Characterization of human DSPG3, a small dermatan sulfate proteoglycan. (PMID: 8975717) Deere M … Hecht JT (Genomics 1996) 2 3 4 58
  2. The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. (PMID: 19616852) Chen ZT … Lin LL (Ophthalmology 2009) 3 44 58
  3. An evaluation of OPTC and EPYC as candidate genes for high myopia. (PMID: 19844586) Wang P … Zhang Q (Molecular vision 2009) 3 44 58
  4. The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan. (PMID: 16902402) Wang IJ … Lin LL (Molecular vision 2006) 3 44 58
  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 58

Products for EPYC Gene

Sources for EPYC Gene

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