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Aliases for EPYC Gene

Aliases for EPYC Gene

  • Epiphycan 2 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 posterior amorphous corneal dystrophy and cornea plana. Among its related pathways are ERK Signaling and Integrin Pathway. GO annotations related to this gene include glycosaminoglycan binding. An important paralog of this gene is OGN.

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.

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

Genomics for EPYC Gene

Regulatory Elements for EPYC Gene

Enhancers for EPYC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPYC on UCSC Golden Path with GeneCards custom track

Genomic Location for EPYC Gene

Chromosome:
12
Start:
90,963,679 bp from pter
End:
91,007,906 bp from pter
Size:
44,228 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 StructureGene Density

RefSeq DNA sequence for EPYC Gene

Proteins for EPYC Gene

  • 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

Proteomics data for EPYC Gene at MOPED

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 Thr 60, Ser 64, Ser 96, Asn 283, and Asn 302
  • Modification sites at PhosphoSitePlus

Other Protein References for EPYC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EPYC Gene

Domains & Families for EPYC Gene

Gene Families for EPYC Gene

Protein Domains for EPYC Gene

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 :
  • Contains 1 LRRNT domain.
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
  • Contains 6 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 LRRNT domain.
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily.
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with EPYC: view

Function for EPYC Gene

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.

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

miRNA for EPYC Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for EPYC Gene COMPARTMENTS Subcellular localization image for EPYC gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 2

No data available for Gene Ontology (GO) - Cellular Components 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

Interacting Proteins 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
GO:0035385 NOT Roundabout signaling pathway IBA --
GO:0048846 NOT axon extension involved in axon guidance IBA --
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

No Compound Related Data Available

Transcripts for EPYC Gene

mRNA/cDNA for EPYC Gene

Unigene Clusters for EPYC Gene

Epiphycan:
Representative Sequences:

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

mRNA expression in normal human tissues 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



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

Protein tissue co-expression partners for EPYC Gene

Primer Products

In Situ Assay Products

Orthologs for EPYC Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPYC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EPYC 35
  • 90.65 (n)
  • 93.15 (a)
EPYC 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPYC 35
  • 89.79 (n)
  • 94.06 (a)
EPYC 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epyc 35
  • 83.95 (n)
  • 82.3 (a)
Epyc 16
Epyc 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPYC 35
  • 99.59 (n)
  • 99.38 (a)
EPYC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epyc 35
  • 83.95 (n)
  • 82.3 (a)
oppossum
(Monodelphis domestica)
Mammalia EPYC 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPYC 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPYC 35
  • 70.48 (n)
  • 67.94 (a)
EPYC 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPYC 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epyc 35
  • 68.99 (n)
  • 67.41 (a)
zebrafish
(Danio rerio)
Actinopterygii epyc 36
  • 21 (a)
OneToOne
Species with no ortholog for EPYC:
  • 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

Sequence variations from dbSNP and Humsavar for EPYC Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs17784152 - 90,972,872(+) AGCGG(C/G)AATAG reference, missense
rs1920714 -- 90,987,515(-) CTTTC(C/T)CTATG intron-variant
rs1920739 -- 90,968,520(-) TTCTG(C/T)ATTTT intron-variant
rs1920740 -- 90,964,479(-) CCCCA(C/G/T)TGCTT intron-variant
rs1920741 -- 90,964,392(-) AGTGG(A/G)CTGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv899425 CNV Gain 21882294
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)

Relevant External Links for EPYC Gene

HapMap Linkage Disequilibrium report
EPYC
Human Gene Mutation Database (HGMD)
EPYC

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

Disorders for EPYC Gene

MalaCards: The human disease database

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

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

Relevant External Links for EPYC

Genetic Association Database (GAD)
EPYC
Human Genome Epidemiology (HuGE) Navigator
EPYC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPYC
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 J.T. (Genomics 1996) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. Distinct isoform of FABP7 revealed by screening for retroelement- activated genes in diffuse large B-cell lymphoma. (PMID: 25114248) Lock F.E. … Mager D.L. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  4. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. (PMID: 20357198) Aldave A.J. … Gorin M.B. (Invest. Ophthalmol. Vis. Sci. 2010) 3
  5. An evaluation of OPTC and EPYC as candidate genes for high myopia. (PMID: 19844586) Wang P. … Zhang Q. (Mol. Vis. 2009) 3

Products for EPYC Gene

Sources for EPYC Gene

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