EPYC epiphycan [Homo sapiens (human)] - Gene

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EPYC functions as a novel prognostic biomarker for pancreatic cancer.
Title: EPYC functions as a novel prognostic biomarker for pancreatic cancer.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: An evaluation of OPTC and EPYC as candidate genes for high myopia.
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

PMC310783P1 (e-PCR)
- UniSTS:272694

PMC310783P2 (e-PCR)
- UniSTS:272695

PMC310783P3 (e-PCR)
- UniSTS:272696

STS-N22463 (e-PCR)
- UniSTS:41810

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)

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

90963682..91004972 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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