Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	64137
Gene name	ATP binding cassette subfamily G member 4
Gene symbol	ABCG4
Synonyms (NCBI Gene)	WHITE2
Chromosome	11
Chromosome location	11q23.3
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/T

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030047	hsa-miR-26b-5p	Microarray	19088304
MIRT759275	hsa-miR-1207-5p	CLIP-seq
MIRT759276	hsa-miR-1236	CLIP-seq
MIRT759277	hsa-miR-185	CLIP-seq
MIRT759278	hsa-miR-3665	CLIP-seq
MIRT759279	hsa-miR-4306	CLIP-seq
MIRT759280	hsa-miR-4639-3p	CLIP-seq
MIRT759281	hsa-miR-4644	CLIP-seq
MIRT759282	hsa-miR-4718	CLIP-seq
MIRT759283	hsa-miR-4736	CLIP-seq
MIRT759284	hsa-miR-4763-3p	CLIP-seq
MIRT759285	hsa-let-7a	CLIP-seq
MIRT759286	hsa-let-7b	CLIP-seq
MIRT759287	hsa-let-7c	CLIP-seq
MIRT759288	hsa-let-7d	CLIP-seq
MIRT759289	hsa-let-7e	CLIP-seq
MIRT759290	hsa-let-7f	CLIP-seq
MIRT759291	hsa-let-7g	CLIP-seq
MIRT759292	hsa-let-7i	CLIP-seq
MIRT759293	hsa-miR-1254	CLIP-seq
MIRT759294	hsa-miR-1262	CLIP-seq
MIRT759295	hsa-miR-1271	CLIP-seq
MIRT759296	hsa-miR-1291	CLIP-seq
MIRT759297	hsa-miR-147	CLIP-seq
MIRT759298	hsa-miR-15a	CLIP-seq
MIRT759299	hsa-miR-15b	CLIP-seq
MIRT759300	hsa-miR-16	CLIP-seq
MIRT759301	hsa-miR-188-3p	CLIP-seq
MIRT759302	hsa-miR-1913	CLIP-seq
MIRT759303	hsa-miR-195	CLIP-seq
MIRT759304	hsa-miR-3116	CLIP-seq
MIRT759305	hsa-miR-3173-5p	CLIP-seq
MIRT759306	hsa-miR-3177-5p	CLIP-seq
MIRT759307	hsa-miR-324-3p	CLIP-seq
MIRT759308	hsa-miR-3529	CLIP-seq
MIRT759309	hsa-miR-3690	CLIP-seq
MIRT759310	hsa-miR-379	CLIP-seq
MIRT759311	hsa-miR-3909	CLIP-seq
MIRT759312	hsa-miR-3911	CLIP-seq
MIRT759313	hsa-miR-3927	CLIP-seq
MIRT759314	hsa-miR-424	CLIP-seq
MIRT759315	hsa-miR-4313	CLIP-seq
MIRT759316	hsa-miR-4458	CLIP-seq
MIRT759317	hsa-miR-4459	CLIP-seq
MIRT759318	hsa-miR-4500	CLIP-seq
MIRT759319	hsa-miR-4506	CLIP-seq
MIRT759320	hsa-miR-4524	CLIP-seq
MIRT759321	hsa-miR-4690-3p	CLIP-seq
MIRT759322	hsa-miR-4700-3p	CLIP-seq
MIRT759323	hsa-miR-4701-3p	CLIP-seq
MIRT759324	hsa-miR-4719	CLIP-seq
MIRT759325	hsa-miR-4733-3p	CLIP-seq
MIRT759326	hsa-miR-4764-5p	CLIP-seq
MIRT759327	hsa-miR-491-5p	CLIP-seq
MIRT759328	hsa-miR-497	CLIP-seq
MIRT759329	hsa-miR-503	CLIP-seq
MIRT759330	hsa-miR-520d-5p	CLIP-seq
MIRT759331	hsa-miR-524-5p	CLIP-seq
MIRT759332	hsa-miR-541	CLIP-seq
MIRT759333	hsa-miR-581	CLIP-seq
MIRT759334	hsa-miR-605	CLIP-seq
MIRT759335	hsa-miR-644	CLIP-seq
MIRT759336	hsa-miR-646	CLIP-seq
MIRT759337	hsa-miR-654-5p	CLIP-seq
MIRT759338	hsa-miR-665	CLIP-seq
MIRT759339	hsa-miR-711	CLIP-seq
MIRT759340	hsa-miR-765	CLIP-seq
MIRT759341	hsa-miR-96	CLIP-seq
MIRT759342	hsa-miR-98	CLIP-seq
MIRT1923786	hsa-miR-1205	CLIP-seq
MIRT1923787	hsa-miR-1909	CLIP-seq
MIRT1923788	hsa-miR-3074-5p	CLIP-seq
MIRT1923789	hsa-miR-3192	CLIP-seq
MIRT1923790	hsa-miR-3199	CLIP-seq
MIRT1923791	hsa-miR-370	CLIP-seq
MIRT1923792	hsa-miR-4300	CLIP-seq
MIRT1923793	hsa-miR-4446-3p	CLIP-seq
MIRT1923794	hsa-miR-4488	CLIP-seq
MIRT1923795	hsa-miR-4492	CLIP-seq
MIRT1923796	hsa-miR-4498	CLIP-seq
MIRT1923797	hsa-miR-4505	CLIP-seq
MIRT1923798	hsa-miR-4515	CLIP-seq
MIRT1923799	hsa-miR-4697-5p	CLIP-seq
MIRT1923800	hsa-miR-4728-5p	CLIP-seq
MIRT759325	hsa-miR-4733-3p	CLIP-seq
MIRT1923801	hsa-miR-516a-3p	CLIP-seq
MIRT1923802	hsa-miR-637	CLIP-seq
MIRT1923803	hsa-miR-762	CLIP-seq
MIRT1923804	hsa-miR-920	CLIP-seq
MIRT2165286	hsa-miR-145	CLIP-seq
MIRT2165287	hsa-miR-1825	CLIP-seq
MIRT759297	hsa-miR-147	CLIP-seq
MIRT759312	hsa-miR-3911	CLIP-seq
MIRT759327	hsa-miR-491-5p	CLIP-seq
MIRT759330	hsa-miR-520d-5p	CLIP-seq
MIRT759331	hsa-miR-524-5p	CLIP-seq
MIRT759332	hsa-miR-541	CLIP-seq
MIRT759333	hsa-miR-581	CLIP-seq
MIRT759335	hsa-miR-644	CLIP-seq
MIRT759337	hsa-miR-654-5p	CLIP-seq

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Transcription factor	Regulation	Reference
NR1H2	Activation	16141411
NR1H3	Activation	16141411

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 27228027, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	27228027
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	ISS
GO:0010875	Process	Positive regulation of cholesterol efflux	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	15240127
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IMP	33141061
GO:0033344	Process	Cholesterol efflux	TAS	16682745
GO:0034041	Function	ABC-type sterol transporter activity	IBA
GO:0034041	Function	ABC-type sterol transporter activity	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042802	Function	Identical protein binding	IDA	27228027
GO:0042803	Function	Protein homodimerization activity	IDA	16870176
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	27228027
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0071403	Process	Cellular response to high density lipoprotein particle stimulus	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
607784	13884	ENSG00000172350

Q9H172

Protein name

ATP-binding cassette sub-family G member 4 (EC 7.6.2.-)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family that may be involved in the cellular efflux of sterols, in particular cholesterol and desmosterol (a cholesterol precursor), to high-density lipoprotein (HDL) (PubMed:15240127, P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00005	ABC_tran	85 → 229	ABC transporter	Domain
PF19055	ABC2_membrane_7	258 → 328	ABC-2 type transporter	Family
PF01061	ABC2_membrane	372 → 583	ABC-2 type transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in the brain and the eye. {ECO:0000269|PubMed:11856881, ECO:0000269|PubMed:12183068}.

Sequence

MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVD
IEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSGAGKSTFMNILAGYRE
SGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKEL
VTEILTALGLMSCSHTRTALLSGGQRKRLAIALELVNNPPVMFFDEPTSGLDSASCFQVV
SLMKSLAQGGRTIICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCP
TYHNPADFIIEVASGEYGDLNPMLFRAVQNGLCAMAEKKSSPEKNEVPAPCPPCPPEVDP
IESHTFATSTLTQFCILFKRTFLSILRDTVLTHLRFMSHVVIGVLIGLLYLHIGDDASKV
FNNTGCLFFSMLFLMFAALMPTVLTFPLEMAVFMREHLNYWYSLKAYYLAKTMADVPFQV
VCPVVYCSIVYWMTGQPAETSRFLLFSALATATALVAQSLGLLIGAASNSLQVATFVGPV
TAIPVLLFSGFFVSFKTIPTYLQWSSYLSYVRYGFEGVILTIYGMERGDLTCLEERCPFR
EPQSILRALDVEDAKLYMDFLVLGIFFLALRLLAYLVLRYRVKSER

Sequence length

646

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Prostate cancer	Uncertain significance	rs193920956	RCV000149295

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26270652
Carcinoma Non Small Cell Lung	Associate	26270652
Diabetes Mellitus	Associate	27664094
Diabetes Mellitus Type 2	Associate	27664094
Lymphatic Metastasis	Associate	26270652
Neoplasms	Associate	24623846
Prostatic Neoplasms	Associate	26459268

ABCG4 (ATP binding cassette subfamily G member 4)