Hs04552115_cn

• Gene Symbol: KCNQ4
• Assay Reference Genome Location: Chr.1:40786055 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 9132
• Gene Name: potassium voltage-gated channel subfamily Q member 4
• Gene Aliases: DFNA2, DFNA2A, KV7.4
• Location: Chr.1:40784012-40840457 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNQ4	NM_004700.3			NP_004691.2
	NM_172163.2			NP_751895.1
	AF105202.1			AAD14680.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3577822	Chr.1:40770274 - 40789804 on Build GRCh38	Loss	NFYC KCNQ4
nsv610	Chr.1:40758199 - 40789878 on Build GRCh38	Insertion	NFYC KCNQ4

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

potassium ion transport
sensory perception of sound
negative regulation of synaptic transmission, dopaminergic
regulation of ion transmembrane transport
inner ear morphogenesis
potassium ion transmembrane transport

Function(s)

delayed rectifier potassium channel activity
potassium channel activity
protein binding