ABCG4 - ATP binding cassette subfamily G member 4 Gene

中文名称：ATP 结合盒亚家族 G 成员 4

种属: Homo sapiens

同用名: WHITE2

基因 ID: 64137 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。编码的蛋白质是 White 亚家族的成员，在细胞胆固醇稳态中起着重要作用。这种蛋白质与另一种 ABC 亚家族蛋白质 (如 ABCG1) 一起作为同源二聚体或异源二聚体发挥作用。[RefSeq 提供，2017 年 1 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATP hydrolysis activity	IDA IDA: 通过直接分析推断	15240127	GOA
enables identical protein binding	IDA IDA: 通过直接分析推断	27228027	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16870176	GOA
enables protein heterodimerization activity	IDA IDA: 通过直接分析推断	27228027	GOA
enables protein heterodimerization activity	IPI IPI: 通过物理相互作用推断	16870176	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	16870176	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cholesterol efflux	IMP IMP: 通过突变表型推断	33141061	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	27228027	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ABCG4 蛋白结构

ABC_tran

ABC2_membrane

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646 a.a.

蛋白主名

其他名称

ATP-binding cassette sub-family G member 4

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

ABCG4 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ABCG4	Q9H172	TMEM50A	Homo sapiens	O95807	Y2H Prey Pooling	32296183
种属内	ABCG4	Q9H172	TMEM50A	Homo sapiens	O95807	Y2H Array	32296183
种属内	ABCG4	Q9H172	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
种属内	ABCG4	Q9H172	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
种属内	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Y2H Array	32814053
种属内	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
种属内	ABCG4	Q9H172	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
种属内	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
种属内	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183
种属内	ABCG4	Q9H172	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
种属内	ABCG4	Q9H172	SGTB	Homo sapiens	Q96EQ0	Y2H Array	32296183
种属内	ABCG4	Q9H172	SGTB	Homo sapiens	Q96EQ0	Y2H Prey Pooling	32296183
种属内	ABCG4	Q9H172	ABCG1	Homo sapiens	P45844-4	Anti Tag CoIP	16870176

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00080	ABCG4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ABCG4 - ATP binding cassette subfamily G member 4 Gene

关于 ABCG4

功能概要

ABCG4 基因产物(4)

ABCG4 蛋白结构

ABCG4 蛋白互作信息

关联疾病

直系同源

热门区域

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ABCG4 - ATP binding cassette subfamily G member 4 Gene

关于 ABCG4

功能概要

ABCG4 基因产物(4)

ABCG4 蛋白结构

ABCG4 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z