EPYC Gene (Protein Coding)

Epiphycan

GC12M090963
GIFtS:
36
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] See more...

Aliases for EPYC Gene

Aliases for EPYC Gene

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

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 OGN.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EPYC Gene

Genomics for EPYC Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH12J091004 Promoter 0.3 EPDnew 600.7 +0.0 34 0.1 EPYC lnc-C12orf74-16 CCER1
GH12J091098 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.8 -94.4 -94380 2.4 ATF7 SMARCC1 JUND CEBPB JUN FOS GTF2F1 NR2F2 EP300 BHLHE40 KERA EPYC MN309489 LUM
GH12J090978 Enhancer 0.6 Ensembl ENCODE CraniofacialAtlas 11.3 +25.0 25048 2.6 CTCF KERA LUM EPYC piR-60146-030 lnc-C12orf74-16 CCER1
GH12J090984 Enhancer 0.3 Ensembl 11.3 +20.6 20625 0.8 NANOG LUM EPYC KERA lnc-C12orf74-16 piR-60146-030 CCER1
GH12J091104 Enhancer 0.3 Ensembl 10.4 -101.0 -100975 0.8 JUND KERA EPYC MN309489 LUM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the EPYC gene promoter:
  • CUTL1
  • HFH-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • S8
  • SRY
  • TBP

Genomic Locations for EPYC Gene

Genomic Locations for EPYC Gene
chr12:90,963,679-91,005,026
(GRCh38/hg38)
Size:
41,348 bases
Orientation:
Minus strand
chr12:91,357,456-91,398,803
(GRCh37/hg19)
Size:
41,348 bases
Orientation:
Minus strand

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, Ser64, Ser96, Asn283, and Asn302
  • 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:
  • Cysteine-rich flanking region, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for EPYC Gene

GenScript: Design optimal peptide antigens:
  • Small chondroitin/dermatan sulfate proteoglycan (EPYC_HUMAN)

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:0005515 protein binding IEA --
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:
  • Epyc Epyc<tm1Mhok>

Animal Model Products

  • Taconic Biosciences Mouse Models for EPYC

CRISPR Products

miRNA for EPYC Gene

miRTarBase miRNAs that target EPYC

Inhibitory RNA Products

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

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 4
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IEA --
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

PathCards logo

SuperPathways for EPYC Gene

SuperPathway Contained pathways
1 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
2 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
3 Phospholipase-C Pathway
Phospholipase-C Pathway
.56
PTEN Pathway
.56
genes like me logo Genes that share pathways with EPYC: view

Pathways by source for EPYC Gene

13 Qiagen pathways for EPYC Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

Gene Ontology (GO) - Biological Process for EPYC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007565 female pregnancy TAS 8975717
GO:0007605 sensory perception of sound IEA --
GO:0060348 bone development IEA --
GO:0061975 articular cartilage development IEA --
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

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 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 EPYC

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

Expression for EPYC Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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



Protein tissue co-expression partners for EPYC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.59 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia EPYC 31
  • 91 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia EPYC 30 31
  • 90.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia EPYC 30 31
  • 89.79 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Epyc 30 17 31
  • 83.95 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Epyc 30
  • 83.95 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia EPYC 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves EPYC 30 31
  • 70.48 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia EPYC 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia epyc 30
  • 68.99 (n)
Zebrafish
(Danio rerio)
 Actinopterygii epyc 31
  • 21 (a)
 OneToOne
Species where no ortholog for EPYC 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 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)
Aminode:
Evolutionary constrained regions (ECRs) for EPYC: view image

Paralogs for EPYC Gene

Paralogs for EPYC Gene

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

  • EPYC_HUMAN
  • F8VSI4_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPYC Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
718123 Likely Benign: not provided 90,971,940(-) G/A NONSENSE
722071 Likely Benign: not provided 90,971,799(-) C/G SPLICE_DONOR_VARIANT
768570 Benign: not provided 90,978,265(-) GA/G INTRON_VARIANT
rs17784152 - p.Ser150Cys

Additional dbSNP identifiers (rs#s) for EPYC Gene

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

(8) MalaCards diseases for EPYC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cornea plana
  • flat cornea
corneal dystrophy, posterior amorphous
  • pacd
breast apocrine carcinoma
  • apocrine carcinoma of breast
stromal dystrophy
corneal dystrophy
- 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
Open Targets Platform
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
  2. An evaluation of OPTC and EPYC as candidate genes for high myopia. (PMID: 19844586) Wang P … Zhang Q (Molecular vision 2009) 3 41
  3. The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients. (PMID: 19616852) Chen ZT … Lin LL (Ophthalmology 2009) 3 41
  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 41
  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

ExternalLinks

View latest publications for EPYC gene in Mastermind

Products for EPYC Gene

  • Signalway ELISA kits for EPYC

Sources for EPYC Gene