Hs04506189_cn

• Gene Symbol: CACNG2
• Assay Reference Genome Location: Chr.22:36568297 on build GRCh38
• Cytoband: 22q12.3

Target Gene Details

• Entrez Gene ID: 10369
• Gene Name: calcium voltage-gated channel auxiliary subunit gamma 2
• Gene Aliases: MRD10
• Location: Chr.22:36560869-36702645 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNG2	NM_006078.3			NP_006069.1
	XM_017028531.1			XP_016884020.1
	AF096322.1			AAD22738.1
	BC069612.1			AAH69612.1
	BC112297.1			AAI12298.1
	BC112299.1			AAI12300.1
	BE670632.1
	CR456414.1			CAG30300.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758836	Chr.22:36510516 - 36645987 on Build GRCh38	Loss	CACNG2 EIF3D
esv2760722	Chr.22:36390921 - 36617980 on Build GRCh38	Gain	TXN2 FOXRED2 CACNG2 EIF3D
esv3647689	Chr.22:36568218 - 36578364 on Build GRCh38	Loss	CACNG2
nsv520497	Chr.22:36299896 - 36570195 on Build GRCh38	Gain	TXN2 MYH9 FOXRED2 CACNG2 EIF3D
nsv1060004	Chr.22:36448479 - 36615303 on Build GRCh38	Gain	TXN2 FOXRED2 CACNG2 EIF3D

More Information

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

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

transport
neuromuscular junction development
transmission of nerve impulse
membrane depolarization
membrane hyperpolarization
cardiac conduction
calcium ion transmembrane transport
regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Function(s)

voltage-gated calcium channel activity
calcium channel activity
protein binding
channel regulator activity
ionotropic glutamate receptor binding