Hs03720971_cn

• Gene Symbol: CACNA1B
• Assay Reference Genome Location: Chr.9:138044710 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 774
• Gene Name: calcium voltage-gated channel subunit alpha1 B
• Gene Aliases: BIII, CACNL1A5, CACNN, Cav2.2, DYT23
• Location: Chr.9:137877789-138124624 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1B	NM_000718.3			NP_000709.1
	NM_001243812.1			NP_001230741.1
	XM_011518991.2			XP_011517293.1
	XM_011518992.2			XP_011517294.1
	XM_011518993.2			XP_011517295.1
	XM_011518994.2			XP_011517296.1
	XM_017015115.1			XP_016870604.1
	XM_017015116.1			XP_016870605.1
	XM_017015117.1			XP_016870606.1
	XM_017015118.1			XP_016870607.1
	XM_017015119.1			XP_016870608.1
	XM_017015120.1			XP_016870609.1
	AB209467.1			BAD92704.1
	M94172.1			AAA51897.1
	M94173.1			AAA51898.1

Target Gene Details

• Entrez Gene ID: 101928786
• Gene Name: uncharacterized LOC101928786
• Gene Aliases: -
• Location: Chr.9:138040503-138045071 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101928786	NR_121582.1
	AK126935.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1043683	Chr.9:137996262 - 138061095 on Build GRCh38	Gain	CACNA1B LOC101928786
esv2759722	Chr.9:137991111 - 138262981 on Build GRCh38	Gain	LOC101928932 CACNA1B FAM157B TUBBP5 LOC101928786
nsv616025	Chr.9:137971737 - 138133487 on Build GRCh38	Gain	CACNA1B LOC101928786
nsv1041587	Chr.9:137983555 - 138200932 on Build GRCh38	Gain	LOC101928932 CACNA1B TUBBP5 LOC101928786
nsv831764	Chr.9:137989794 - 138171401 on Build GRCh38	Loss	CACNA1B TUBBP5 LOC101928786

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

transport
chemical synaptic transmission
neurotransmitter secretion
locomotory behavior
regulation of heart contraction
regulation of blood pressure
regulation of ion transmembrane transport
response to pain
membrane depolarization
regulation of calcium ion transport
calcium ion transmembrane transport
membrane depolarization during action potential

Function(s)

voltage-gated calcium channel activity
calcium channel activity
calcium ion binding
protein binding
ATP binding
protein C-terminus binding
high voltage-gated calcium channel activity