Hs01690841_cn

• Gene Symbol: ABCG8
• Assay Reference Genome Location: Chr.2:43838992 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 64241
• Gene Name: ATP binding cassette subfamily G member 8
• Gene Aliases: GBD4, STSL
• Location: Chr.2:43831942-43880051 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCG8	NM_022437.2			NP_071882.1
	XM_005264483.3	1	144	XP_005264540.1
	XM_011533029.2			XP_011531331.1
	XM_011533030.2			XP_011531332.1
	AF324494.1			AAK84078.1
	BC113657.1
	BC143564.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1012126	Chr.2:43716882 - 44206414 on Build GRCh38	Gain	PLEKHH2 DYNC2LI1 ABCG8 LRPPRC PPM1B ABCG5
dgv59n68	Chr.2:43619845 - 43871585 on Build GRCh38	Gain	PLEKHH2 DYNC2LI1 ABCG8 C1GALT1C1L ABCG5
nsv1007740	Chr.2:42961811 - 44117003 on Build GRCh38	Gain	LOC107985876 LOC102723854 PLEKHH2 DYNC2LI1 LINC01126 ABCG8 LRPPRC ZFP36L2 C1GALT1C1L ABCG5 THADA
nsv581661	Chr.2:43762402 - 44145770 on Build GRCh38	Gain	PLEKHH2 DYNC2LI1 ABCG8 LRPPRC ABCG5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

response to nutrient
excretion
negative regulation of intestinal phytosterol absorption
phospholipid transport
sterol transport
intestinal cholesterol absorption
cholesterol efflux
response to drug
cholesterol homeostasis
negative regulation of intestinal cholesterol absorption
transmembrane transport

Function(s)

protein binding
ATP binding
ATPase activity
cholesterol transporter activity
ATPase activity, coupled to transmembrane movement of substances
protein heterodimerization activity