Hs00508528_cn

• Gene Symbol: GNB3
• Assay Reference Genome Location: Chr.12:6843648 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 2784
• Gene Name: G protein subunit beta 3
• Gene Aliases: CSNB1H
• Location: Chr.12:6840854-6847400 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB3	NM_001297571.1			NP_001284500.1
	NM_002075.3			NP_002066.1
	XM_011520953.2			XP_011519255.1
	AB209283.1			BAD92520.1
	AB593098.1
	AB593099.1
	AF501884.1			AAM15920.1
	AK313091.1
	AU143349.1
	BC000115.1			AAH00115.1
	BC002454.2			AAH02454.1
	BC015920.1			AAH15920.1
	BT009800.1			AAP88802.1
	M31328.1			AAA52582.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv557261	Chr.12:6839304 - 6924660 on Build GRCh38	Loss	LOC105369632 DSTNP2 GNB3 ENO2 P3H3 USP5 SPSB2 RPL13P5 TPI1 ATN1 CDCA3 LRRC23
nsv832324	Chr.12:6780297 - 6932306 on Build GRCh38	Loss	LOC105369632 DSTNP2 GPR162 GNB3 P3H3 SPSB2 ATN1 CDCA3 ENO2 USP5 CD4 RPL13P5 TPI1 LRRC23
esv3580405	Chr.12:6826466 - 6903969 on Build GRCh38	Gain	LOC105369632 DSTNP2 GPR162 GNB3 P3H3 USP5 SPSB2 RPL13P5 TPI1 CDCA3
nsv832323	Chr.12:6662233 - 6856559 on Build GRCh38	Loss	ING4 GPR162 GNB3 P3H3 CDCA3 COPS7A LAG3 PIANP MLF2 USP5 CD4 ZNF384 PTMS

More Information

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

Panther Classification:

Molecular Function -

heterotrimeric G-protein

Gene Ontology Categories:

Process(es)

protein folding
G-protein coupled receptor signaling pathway
regulation of blood pressure
cellular response to glucagon stimulus

Function(s)

GTPase activity
signal transducer activity
protein binding
spectrin binding
GTPase binding