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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]
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0005539 | glycosaminoglycan binding | TAS | 8975717 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0031012 | extracellular matrix | IEA | -- |
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
|
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 | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPYC 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPYC 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPYC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPYC 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Epyc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Epyc 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPYC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EPYC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPYC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epyc 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | epyc 31 |
|
OneToOne |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cornea plana |
|
|
corneal dystrophy, posterior amorphous |
|
|
breast apocrine carcinoma |
|
|
stromal dystrophy |
|
|
corneal dystrophy |
|
|