Hs07226317_cn

• Gene Symbol: KCNE3
• Assay Reference Genome Location: Chr.11:74465387 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 10008
• Gene Name: potassium voltage-gated channel subfamily E regulatory subunit 3
• Gene Aliases: HOKPP, HYPP, MiRP2
• Location: Chr.11:74454841-74467729 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNE3	NM_005472.4			NP_005463.1
	XM_011544713.2			XP_011543015.1
	XM_017017047.1			XP_016872536.1
	XM_017017048.1			XP_016872537.1
	XM_017017050.1	1	1907	XP_016872539.1
	XM_017017051.1			XP_016872540.1
	XM_017017052.1			XP_016872541.1
	CD709836.1
	CR936625.1			CAI56768.1
	DQ192291.1			ABB00304.1
	DR006135.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34979	Chr.11:74167643 - 74822407 on Build GRCh38	Gain	LOC100287896 MIR548AL MIR4696 POLD3 LOC101928580 PPME1 LIPT2 C2CD3 CHRDL2 PGM2L1 KCNE3 RNF169 P4HA3
nsv1041154	Chr.11:74403756 - 74466864 on Build GRCh38	Loss	KCNE3
esv2759837	Chr.11:74131564 - 74846552 on Build GRCh38	Gain	LOC100287896 MIR548AL MIR4696 POLD3 LOC101928580 PPME1 LIPT2 XRRA1 C2CD3 CHRDL2 PGM2L1 KCNE3 RNF169 P4HA3
nsv555443	Chr.11:74398121 - 74469444 on Build GRCh38	Loss	MIR548AL PGM2L1 KCNE3
dgv209e214	Chr.11:74225600 - 74828943 on Build GRCh38	Gain	PPME1 LIPT2 LOC100287896 CHRDL2 MIR548AL PGM2L1 MIR4696 KCNE3 POLD3 RNF169 P4HA3 LOC101928580
nsv832209	Chr.11:74444838 - 74618074 on Build GRCh38	Gain	LIPT2 LOC100287896 KCNE3 POLD3
nsv825994	Chr.11:74225622 - 74823410 on Build GRCh38	Gain	PPME1 LIPT2 LOC100287896 CHRDL2 MIR548AL PGM2L1 MIR4696 KCNE3 POLD3 RNF169 P4HA3 LOC101928580
nsv393	Chr.11:74424817 - 74470372 on Build GRCh38	Deletion	KCNE3

More Information

Additional Information:

• Set Membership: Intragenic, Exonic, DGV Variation, Validated

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

regulation of membrane repolarization
potassium ion transmembrane transport
positive regulation of voltage-gated calcium channel activity
negative regulation of delayed rectifier potassium channel activity

Function(s)

voltage-gated potassium channel activity
protein binding
potassium channel regulator activity
ion channel binding