Hs03976495_cn

• Gene Symbol: EPN2
• Assay Reference Genome Location: Chr.17:19238370 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 22905
• Gene Name: epsin 2
• Gene Aliases: EHB21
• Location: Chr.17:19237377-19336715 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPN2	NM_001102664.1			NP_001096134.1
	NM_014964.4			NP_055779.2
	NM_148921.3			NP_683723.2
	AB028988.1
	AK024115.1			BAB14831.1
	AK092366.1
	AK295652.1
	AK298006.1
	AK307455.1
	BC070036.1			AAH70036.1
	DA220261.1
	DC316524.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 EPN2-IT1 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	EPN2 EPN2-AS1 SNORD3C SNORD3A MIR1180 EPN2-IT1 LOC79999 B9D1 GRAPL LOC388436
nsv2001	Chr.17:19071255 - 19268498 on Build GRCh38	Deletion	SNORD3D EPN2 SNORD3C SNORD3A LOC79999 GRAPL LOC388436 LOC102724624
nsv9504	Chr.17:18389579 - 19238707 on Build GRCh38	Gain+Loss	LOC101929141 KRT16P1 FOXO3B TRIM16L LOC79999 LOC102724624 EPN2 FBXW10 CCDC144B GRAPL FLJ35934 LGALS9C SNORD3A GRAP ZNF286B KRT17P2 FAM106A SNORD3B-2 USP32P2 SNORD3D SNORD3C TVP23B PRPSAP2 EVPLL TBC1D28 FAM83G SNORD3B-1 SLC5A10 LOC388436 KRT17P5
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	SNORA59B LOC79999 LOC102724624 CCDC144CP MAPK7 EPN2 EPN2-AS1 ALDH3A2 LOC100131943 RNF112 SPECC1 MIR1180 ULK2 B9D1 GRAPL RPS2P46 SNORD3A SLC47A1 GRAP ALDH3A1 SNORD3B-2 SNORD3D SNORD3C EPN2-IT1 SLC47A2 SNORD3B-1 LOC388436 MFAP4 AKAP10
dgv895e212	Chr.17:19019105 - 19248776 on Build GRCh38	Loss	SNORD3D EPN2 SNORD3C SNORD3A GRAP LOC79999 SNORD3B-1 SLC5A10 GRAPL LOC388436 LOC102724624 SNORD3B-2
nsv833391	Chr.17:18906887 - 19238887 on Build GRCh38	Loss	SNORD3A GRAP LOC79999 LOC102724624 SNORD3B-2 SNORD3D EPN2 SNORD3C PRPSAP2 FAM83G SNORD3B-1 SLC5A10 GRAPL LOC388436

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

endocytosis
regulation of endocytosis
cell-cell adhesion

Function(s)

protein binding
lipid binding
cadherin binding involved in cell-cell adhesion