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    EPYC epiphycan [ Homo sapiens (human) ]

    Gene ID: 1833, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EPYCprovided by HGNC
    Official Full Name
    epiphycanprovided by HGNC
    Primary source
    HGNC:HGNC:3053
    See related
    Ensembl:ENSG00000083782 MIM:601657; AllianceGenome:HGNC:3053
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PGLB; DSPG3; Pg-Lb; SLRR3B
    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 RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 4.1), endometrium (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See EPYC in Genome Data Viewer
    Location:
    12q21.33
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (90963682..91004972, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (90941190..90982485, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (91357459..91398749, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14687 Neighboring gene long intergenic non-protein coding RNA 615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6716 Neighboring gene coiled-coil glutamate rich protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91377884-91378418 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:91434914-91435454 Neighboring gene keratocan Neighboring gene lumican

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. EPYC functions as a novel prognostic biomarker for pancreatic cancer. Yang Z, et al. Sci Rep, 2024 Jan 6. PMID 38184732, Free PMC Article
    2. Genomic characterization of human DSPG3. Deere M, et al. Genome Res, 1999 May. PMID 10330124, Free PMC Article
    3. Characterization of human DSPG3, a small dermatan sulfate proteoglycan. Deere M, et al. Genomics, 1996 Dec 15. PMID 8975717
    4. KLF9 and EPYC acting as feature genes for osteoarthritis and their association with immune infiltration. Zhang J, et al. J Orthop Surg Res, 2022 Jul 28. PMID 35902862, Free PMC Article
    5. An evaluation of OPTC and EPYC as candidate genes for high myopia. Wang P, et al. Mol Vis, 2009 Oct 15. PMID 19844586, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EPYC functions as a novel prognostic biomarker for pancreatic cancer.
      Title: EPYC functions as a novel prognostic biomarker for pancreatic cancer.
    2. KLF9 and EPYC acting as feature genes for osteoarthritis and their association with immune infiltration.
      Title: KLF9 and EPYC acting as feature genes for osteoarthritis and their association with immune infiltration.
    3. Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region.
      Title: Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
    4. OPTC and EPYC are unlikely to play a major role in high myopia.
      Title: An evaluation of OPTC and EPYC as candidate genes for high myopia.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: An evaluation of OPTC and EPYC as candidate genes for high myopia.
    6. In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis.
      Title: Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glycosaminoglycan binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in articular cartilage development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bone development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female pregnancy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    epiphycan
    Names
    dermatan sulfate proteoglycan 3
    epiphycan proteoglycan
    proteoglycan-lb
    small chondroitin/dermatan sulfate proteoglycan

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004950.5 → NP_004941.2  epiphycan precursor

      See identical proteins and their annotated locations for NP_004941.2

      Status: REVIEWED

      Source sequence(s)
      AK290642, BQ007792
      Consensus CDS
      CCDS31870.1
      UniProtKB/Swiss-Prot
      A8K3M7, Q8NEJ5, Q99645
      Related
      ENSP00000261172.3, ENST00000261172.8
      Conserved Domains (4) summary
      smart00013
      Location:121 → 145
      LRRNT; Leucine rich repeat N-terminal domain
      cd00116
      Location:167 → 270
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:145 → 168
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:169 → 223
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      90963682..91004972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538008.2 → XP_011536310.1  epiphycan isoform X1

      Conserved Domains (4) summary
      smart00013
      Location:60 → 84
      LRRNT; Leucine rich repeat N-terminal domain
      cd00116
      Location:106 → 209
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:84 → 107
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:108 → 162
      LRR_8; Leucine rich repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      90941190..90982485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371352.1 → XP_054227327.1  epiphycan isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99645.3 GenPept UniProtKB/Swiss-Prot:Q99645

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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