Hs01166558_cn

• Gene Symbol: HERC2
• Assay Reference Genome Location: Chr.15:28116720 on build GRCh38
• Cytoband: 15q13.1

Target Gene Details

• Entrez Gene ID: 8924
• Gene Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
• Gene Aliases: D15F37S1, MRT38, SHEP1, jdf2, p528
• Location: Chr.15:28111037-28322173 on Build GRCh38
• Assay Gene Location: Overlaps Intron 93 - Exon 93

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HERC2	NM_004667.5			NP_004658.3
	XM_005268276.4			XP_005268333.1
	XM_006720726.3			XP_006720789.1
	XM_006720727.3			XP_006720790.1
	XM_011522131.2			XP_011520433.1
	XM_011522133.2			XP_011520435.1
	XM_017022695.1			XP_016878184.1
	XM_017022696.1			XP_016878185.1
	XM_017022697.1			XP_016878186.1
	XM_017022698.1			XP_016878187.1
	AF071172.3			AAD08657.1
	AK125229.1
	AL834183.1			CAD38880.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3635988	Chr.15:28098445 - 28194723 on Build GRCh38	Gain	HERC2 OCA2
dgv2489n100	Chr.15:27807877 - 28121044 on Build GRCh38	Gain	HERC2 OCA2
nsv952579	Chr.15:28094855 - 28118154 on Build GRCh38	Deletion	HERC2 OCA2
nsv428299	Chr.15:28042424 - 28817373 on Build GRCh38	Loss	PDCD6IPP2 LOC100289656 OCA2 GOLGA8G MIR4509-2 HERC2 LOC101929047 LOC645202 HERC2P9 MIR4509-3 WHAMMP2 HERC2P11 GOLGA8M GOLGA8F LOC100132202
nsv568663	Chr.15:27783102 - 28176880 on Build GRCh38	Loss	HERC2 OCA2
nsv1039684	Chr.15:28080438 - 28315658 on Build GRCh38	Gain	HERC2 OCA2
esv3635990	Chr.15:28108015 - 28121432 on Build GRCh38	Gain	HERC2
nsv1052131	Chr.15:27932591 - 28460005 on Build GRCh38	Gain	HERC2 LOC645202 OCA2 MIR4509-2 GOLGA8F
nsv1038472	Chr.15:27647423 - 28256473 on Build GRCh38	Gain	HERC2 OCA2
nsv568662	Chr.15:27726493 - 29056123 on Build GRCh38	Gain	PDCD6IPP2 LOC100289656 OCA2 LOC107984752 GOLGA8G MIR4509-2 HERC2 LOC101929047 LOC645202 HERC2P9 MIR4509-3 WHAMMP2 HERC2P11 GOLGA8M APBA2 GOLGA6L7P GOLGA8F LOC100132202
nsv1047941	Chr.15:28110984 - 28168961 on Build GRCh38	Gain	HERC2
nsv568665	Chr.15:28065828 - 28123823 on Build GRCh38	Loss	HERC2 OCA2

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

double-strand break repair via nonhomologous end joining
intracellular protein transport
cellular response to DNA damage stimulus
spermatogenesis
protein ubiquitination
protein sumoylation
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of GTPase activity

Function(s)

ubiquitin-protein transferase activity
guanyl-nucleotide exchange factor activity
protein binding
zinc ion binding
ligase activity
ubiquitin protein ligase binding
SUMO binding