Hs01950396_cn

• Gene Symbol: ABCG4
• Assay Reference Genome Location: Chr.11:119154823 on build GRCh38
• Cytoband: 11q23.3

Target Gene Details

• Entrez Gene ID: 64137
• Gene Name: ATP binding cassette subfamily G member 4
• Gene Aliases: WHITE2
• Location: Chr.11:119149040-119162666 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCG4	NM_001142505.1	6	706	NP_001135977.1
	NM_022169.4	6	930	NP_071452.2
	XM_011542952.2	5	958	XP_011541254.1
	XM_017018121.1	6	661	XP_016873610.1
	AJ300465.1	5	593	CAC17140.1
	AJ308237.1	5	605	CAC87131.1
	AJ308242.1	1	62
	AK289830.1	6	706
	AK290035.1	6	867
	AK308673.1	4	276
	BC041091.1	6	930	AAH41091.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv556467	Chr.11:119154221 - 119193848 on Build GRCh38	Loss	NLRX1 CCDC153 PDZD3 ABCG4
nsv556466	Chr.11:119106009 - 119188695 on Build GRCh38	Loss	NLRX1 HINFP C2CD2L PDZD3 ABCG4

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)

cholesterol efflux
transmembrane transport

Function(s)

protein binding
ATP binding
cholesterol transporter activity
sterol-transporting ATPase activity
protein homodimerization activity
protein heterodimerization activity