Hs04590365_cn

• Gene Symbol: CACNB4
• Assay Reference Genome Location: Chr.2:151836174 on build GRCh38
• Cytoband: 2q23.3

Target Gene Details

• Entrez Gene ID: 785
• Gene Name: calcium voltage-gated channel auxiliary subunit beta 4
• Gene Aliases: CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6
• Location: Chr.2:151832771-152099988 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNB4	NM_000726.3	14	4576	NP_000717.2
	NM_001005746.2	14	4526	NP_001005746.1
	NM_001005747.2	13	4664	NP_001005747.1
	NM_001145798.1	13	4390	NP_001139270.1
	NM_001320722.1	14	4824	NP_001307651.1
	XM_011511795.2	14	6293	XP_011510097.1
	XM_011511796.2	13	5247	XP_011510098.1
	XM_011511797.2	11	5296	XP_011510099.1
	XM_017004880.1	11	4388	XP_016860369.1
	XM_017004881.1	10	4456	XP_016860370.1
	XM_017004882.1	11	5781	XP_016860371.1
	XM_017004883.1	15	6115	XP_016860372.1
	XM_017004884.1	13	5949	XP_016860373.1
	XM_017004885.1	12	5789	XP_016860374.1
	XM_017004886.1	5	3869	XP_016860375.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv34659	Chr.2:150858366 - 152860232 on Build GRCh38	Loss	ARL5A RBM43 MIR4773-2 PRPF40A RIF1 ARL6IP6 FMNL2 TNFAIP6 NEB MIR4773-1 CACNB4 NMI STAM2 LOC101929319
esv3592922	Chr.2:151571476 - 153829714 on Build GRCh38	Loss	FMNL2 NEB RPRM ARL5A CACNB4 PRPF40A STAM2 ARL6IP6
esv1010582	Chr.2:151835724 - 151845268 on Build GRCh38	Deletion	CACNB4
esv3592924	Chr.2:151812157 - 151840483 on Build GRCh38	Loss	ARL5A CACNB4

More Information

Additional Information:

For this assay, SNP(s) [rs116457978] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

transport
cellular calcium ion homeostasis
gamma-aminobutyric acid signaling pathway
chemical synaptic transmission
neuromuscular junction development
adult walking behavior
gamma-aminobutyric acid secretion
neuronal action potential propagation
synaptic transmission, glutamatergic
cAMP metabolic process
spleen development
thymus development
Peyer's patch development
muscle fiber development
T cell receptor signaling pathway
detection of light stimulus involved in visual perception
membrane depolarization
cardiac conduction
calcium ion transmembrane transport
regulation of voltage-gated calcium channel activity

Function(s)

voltage-gated calcium channel activity
calcium channel activity
protein kinase binding