Hs02802272_cn

• Gene Symbol: CACNB2
• Assay Reference Genome Location: Chr.10:18536191 on build GRCh38
• Cytoband: 10p12.31

Target Gene Details

• Entrez Gene ID: 783
• Gene Name: calcium voltage-gated channel auxiliary subunit beta 2
• Gene Aliases: CACNLB2, CAVB2, MYSB
• Location: Chr.10:18140560-18545881 on Build GRCh38
• Assay Gene Location: Overlaps Exon 18 - Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNB2	NM_000724.3			NP_000715.2
	NM_001167945.1			NP_001161417.1
	NM_201570.2			NP_963864.1
	NM_201571.3			NP_963865.2
	NM_201572.3			NP_963866.2
	NM_201590.2			NP_963884.2
	NM_201593.2			NP_963887.2
	NM_201596.2			NP_963890.2
	NM_201597.2			NP_963891.1
	XM_005252588.3			XP_005252645.1
	XM_005252591.3			XP_005252648.1
	XM_006717502.3			XP_006717565.1
	XM_011519659.2			XP_011517961.1
	XM_011519660.2			XP_011517962.1
	XM_017016625.1			XP_016872114.1
	AB208917.1			BAD92154.1
	AF137376.1			AAD33729.1
	AF137377.1			AAD33730.1
	AF285239.2			AAG01473.2
	AF423189.1			AAL16948.1
	AF423190.1			AAL16949.1
	AF423191.1			AAL16950.1
	AF423192.1			AAL16951.1
	AF465485.1			AAL73495.1
	AK293937.1
	AK296471.1
	AK299873.1
	AK307526.1
	AY393858.1			AAQ97606.1
	AY393859.1			AAQ97607.1
	AY393860.1			AAQ97608.1
	AY393861.1			AAQ97609.1
	AY393862.1			AAQ97610.1
	AY675091.1			AAV49501.1
	AY675092.1			AAV49502.1
	BC136409.1
	S60415.1			AAB51370.1
	U95019.1			AAB53332.1

Target Gene Details

• Entrez Gene ID: 221078
• Gene Name: NOP2/Sun RNA methyltransferase family member 6
• Gene Aliases: 4933414E04Rik, ARL5B-AS1, NOPD1
• Location: Chr.10:18512582-18659264 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NSUN6

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1042073	Chr.10:18517971 - 18549374 on Build GRCh38	Gain	NSUN6 CACNB2
nsv550042	Chr.10:18394338 - 18705654 on Build GRCh38	Gain	ARL5B NSUN6 CACNB2
esv34545	Chr.10:18532256 - 18619365 on Build GRCh38	Gain	NSUN6 CACNB2

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

chemical synaptic transmission
neuromuscular junction development
visual perception
positive regulation of calcium ion transport
cardiac conduction
calcium ion import
calcium ion transmembrane transport
membrane depolarization during AV node cell action potential
regulation of heart rate by cardiac conduction
establishment of protein localization to plasma membrane
membrane depolarization during atrial cardiac muscle cell action potential
regulation of voltage-gated calcium channel activity
positive regulation of high voltage-gated calcium channel activity
positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel

Function(s)

voltage-gated calcium channel activity
calcium channel regulator activity
calcium channel activity
protein binding
high voltage-gated calcium channel activity
protein kinase binding
protein domain specific binding
actin filament binding
phosphoprotein binding
voltage-gated calcium channel activity involved in cardiac muscle cell action potential
voltage-gated calcium channel activity involved in AV node cell action potential