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ABCG4 - ATP binding cassette subfamily G member 4 Gene

Also Known as WHITE2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64137

About ABCG4

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,149,052-119,162,666 (from NCBI)

This gene has 6 transcripts (splice variants), 282 orthologues and 4 paralogues. Biased expression in testis (RPKM 2.4), brain (RPKM 2.0) and 8 other tissues.

Summary

The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular Cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]

ABCG4 Products (4)

mRNA	Protein	Name
NM_001142505.1	NP_001135977.1	ATP-binding cassette sub-family G member 4 isoform a
NM_001348191.2	NP_001335120.1	ATP-binding cassette sub-family G member 4 isoform a
NM_001348192.2	NP_001335121.1	ATP-binding cassette sub-family G member 4 isoform b
NM_022169.5	NP_071452.2	ATP-binding cassette sub-family G member 4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	15240127	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	27228027	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16870176	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	27228027	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	16870176	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16870176	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cholesterol efflux	IMP IMP: Inferred from mutant phenotype	33141061	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	27228027	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCG4 Protein Structure

ABC_tran

ABC2_membrane

0
100
200
300
400
500
600
646 a.a.

Protein Preferred Names	Protein Names
ATP-binding cassette sub-family G member 4	ATP-binding cassette, sub-family G (WHITE), member 4

ABCG4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ABCG4	Q9H172	TMEM50A	Homo sapiens	O95807	Y2H Prey Pooling	32296183
Intra	ABCG4	Q9H172	TMEM50A	Homo sapiens	O95807	Y2H Array	32296183
Intra	ABCG4	Q9H172	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	ABCG4	Q9H172	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
Intra	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	ABCG4	Q9H172	SGTB	Homo sapiens	Q96EQ0	Y2H Array	32296183
Intra	ABCG4	Q9H172	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	32296183
Intra	ABCG4	Q9H172	ABCG1	Homo sapiens	P45844-4	Anti Tag CoIP	16870176

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Bile Acid Synthesis Defect, Congenital, 5	Congenital Bile Acid Synthesis Defect 5 CBAS5 Bile Acid Synthesis Defect, Congenital, Type 5
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00080	ABCG4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N12990	Myrigalone A	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ABCG4	RGD	RGD:1305840
Bos taurus	ABCG4	VGNC	VGNC:25484
Macaca mulatta	ABCG4	VGNC	VGNC:69390
Felis catus	ABCG4	VGNC	VGNC:59471
Canis familiaris	ABCG4	VGNC	VGNC:37453
Mus musculus	ABCG4	MGD	MGI:1890594
Others	ABCG4	NCBI