Hs03349908_cn

• Gene Symbol: KCNAB2
• Assay Reference Genome Location: Chr.1:5998945 on build GRCh38
• Cytoband: 1p36.31

Target Gene Details

• Entrez Gene ID: 8514
• Gene Name: potassium voltage-gated channel subfamily A regulatory beta subunit 2
• Gene Aliases: AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, KCNA2B, KV-BETA-2
• Location: Chr.1:5992298-6101193 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNAB2	NM_001199861.1			NP_001186790.1
	XM_005263514.2			XP_005263571.1
	XM_011542321.2			XP_011540623.1
	XM_017002619.1			XP_016858108.1
	AK289819.1
	AK290044.1
	AK312395.1
	AK315811.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv545173	Chr.1:5833391 - 6025293 on Build GRCh38	Gain	KCNAB2 MIR4689 NPHP4
nsv1008071	Chr.1:5892183 - 6084478 on Build GRCh38	Loss	KCNAB2 NPHP4
nsv953994	Chr.1:5992941 - 6061340 on Build GRCh38	Deletion	KCNAB2
nsv1008999	Chr.1:5996108 - 6094669 on Build GRCh38	Gain	KCNAB2
nsv831314	Chr.1:5889409 - 6062997 on Build GRCh38	Loss	KCNAB2 NPHP4

More Information

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

Gene Ontology Categories:

Process(es)

hematopoietic progenitor cell differentiation
neuromuscular process
oxidation-reduction process
NADPH oxidation
potassium ion transmembrane transport
regulation of potassium ion transmembrane transport
regulation of protein localization to cell surface

Function(s)

aldo-keto reductase (NADP) activity
voltage-gated potassium channel activity
potassium channel regulator activity