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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	26270652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27196068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30977450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27664094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27664094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30977450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24385509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29132227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26270652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26459268, 30834613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30977450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26270652, 30834613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26270652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30977450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26459268, 30834613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26459268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCG4 (ATP binding cassette subfamily G member 4)