EPYC (epiphycan)

Gene

• Entrez ID: 1833
• Gene name: Epiphycan
• Gene symbol: EPYC
• Synonyms (NCBI Gene): DSPG3, PGLB, Pg-Lb, SLRR3B
• Chromosome: 12
• Chromosome location: 12q21.33
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1986712	hsa-miR-2052	CLIP-seq
MIRT1986713	hsa-miR-2278	CLIP-seq
MIRT1986714	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005539	Function	Glycosaminoglycan binding	TAS	8975717
GO:0005576	Component	Extracellular region	IEA
GO:0007565	Process	Female pregnancy	TAS	8975717
GO:0007605	Process	Sensory perception of sound	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0060348	Process	Bone development	IBA
GO:0060348	Process	Bone development	IEA
GO:0061975	Process	Articular cartilage development	IBA
GO:0061975	Process	Articular cartilage development	IEA

Other IDs

• MIM: 601657
• HGNC: 3053
• e!Ensembl: ENSG00000083782

Protein

• UniProt ID: Q99645
• Protein name: Epiphycan (Dermatan sulfate proteoglycan 3) (Proteoglycan-Lb) (PG-Lb) (Small chondroitin/dermatan sulfate proteoglycan)
• Protein function: May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13855	LRR_8	151 → 203	Leucine rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Cartilage, ligament, and placenta. {ECO:0000269|PubMed:8975717}.
• Sequence:

  MKTLAGLVLGLVIFDAAVTAPTLESINYDSETYDATLEDLDNLYNYENIPVDKVEIEIAT
  VMPSGNRELLTPPPQPEKAQEEEEEEESTPRLIDGSSPQEPEFTGVLGPHTNEDFPTCLL
  CTCISTTVYCDDHELDAIPPLPKNTAYFYSRFNRIKKINKNDFASLSDLKRIDLTSNLIS
  EIDEDAFRKLPQLRELVLRDNKIRQLPELPTTLTFIDISNNRLGRKGIKQEAFKDMYDLH
  HLYLTDNNLDHIPLPLPENLRALHLQNNNILEMHEDTFCNVKNLTYIRKALEDIRLDGNP
  INLSKTPQAYMCLPRLPVGSLV

• Sequence length: 322

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	38291367	Associate	★☆☆☆☆ Found in Text Mining only
Congenital thrombotic disease due to Protein C deficiency	Congenital thrombotic thrombocytopenic purpura	Pubtator	38184732	Stimulate	★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	BEFREE	17558846		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19844586	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35733917, 35902862	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27028324	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	38184732	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	16902402, 19616852, 19844586, 21743019		★☆☆☆☆ Found in Text Mining only