Hs03645866_cn

• Gene Symbol: KCNH2
• Assay Reference Genome Location: Chr.7:150959085 on build GRCh38
• Cytoband: 7q36.1

Target Gene Details

• Entrez Gene ID: 3757
• Gene Name: potassium voltage-gated channel subfamily H member 2
• Gene Aliases: ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1
• Location: Chr.7:150944956-150978314 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH2	NM_000238.3			NP_000229.1
	NM_172056.2			NP_742053.1
	XM_011516185.2			XP_011514487.1
	XM_011516186.2			XP_011514488.1
	XM_017012195.1			XP_016867684.1
	XM_017012196.1			XP_016867685.1
	AB044806.1			BAB19682.1
	AF363636.1			AAL37559.1
	BC001914.1			AAH01914.2
	BM674996.1
	BT007336.1			AAP36000.1
	DQ525913.1
	FJ938021.1
	U04270.1			AAA62473.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1030109	Chr.7:150615828 - 151003922 on Build GRCh38	Gain	GIMAP6 GIMAP1-GIMAP5 NOS3 LOC105375566 GIMAP5 GIMAP1 TMEM176B GIMAP2 KCNH2 TMEM176A AOC1
nsv465213	Chr.7:150909200 - 150970122 on Build GRCh38	Loss	KCNH2
dgv11721n54	Chr.7:150901404 - 150970122 on Build GRCh38	Loss	KCNH2
nsv951648	Chr.7:150931413 - 151106413 on Build GRCh38	Deletion	SLC4A2 NOS3 TMUB1 ABCB8 AGAP3 FASTK KCNH2 CDK5 ATG9B ASIC3
esv2759574	Chr.7:150841733 - 150966609 on Build GRCh38	Loss	KCNH2 AOC1
nsv608990	Chr.7:150264185 - 151010400 on Build GRCh38	Gain	GIMAP7 NOS3 ZBED6CL GIMAP4 TMEM176B GIMAP2 KCNH2 LRRC61 ZNF775 LOC728743 GIMAP8 REPIN1 ACTR3C GIMAP6 GIMAP1-GIMAP5 LINC00996 LOC105375566 RARRES2 LOC107986860 GIMAP5 GIMAP1 TMEM176A AOC1

More Information

Additional Information:

For this assay, SNP(s) [rs73167622] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

phosphorelay signal transduction system
regulation of heart rate by hormone
signal transduction by protein phosphorylation
cellular response to drug
regulation of membrane potential
potassium ion homeostasis
cardiac muscle contraction
regulation of membrane repolarization
regulation of ventricular cardiac muscle cell membrane repolarization
cardiac conduction
potassium ion export
potassium ion transmembrane transport
ventricular cardiac muscle cell action potential
membrane depolarization during action potential
membrane repolarization during action potential
membrane repolarization during cardiac muscle cell action potential
regulation of heart rate by cardiac conduction
potassium ion export across plasma membrane
membrane repolarization during ventricular cardiac muscle cell action potential
regulation of potassium ion transmembrane transport
negative regulation of potassium ion transmembrane transport
positive regulation of potassium ion transmembrane transport
negative regulation of potassium ion export

Function(s)

phosphorelay sensor kinase activity
inward rectifier potassium channel activity
voltage-gated potassium channel activity
delayed rectifier potassium channel activity
protein binding
ubiquitin protein ligase binding
identical protein binding
protein homodimerization activity
C3HC4-type RING finger domain binding
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
scaffold protein binding
voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization