ABCG8 (ATP binding cassette subfamily G member 8)

Gene

• Entrez ID: 64241
• Gene name: ATP binding cassette subfamily G member 8
• Gene symbol: ABCG8
• Synonyms: GBD4, STSL, STSL1
• Chromosome: 2
• Chromosome location: 2p21
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. 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). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113005049	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs137852987	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137852988	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852989	C>G	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852990	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852991	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137852992	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137852993	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs139677898	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, synonymous variant
rs140778634	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144200355	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs145482605	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs146046068	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147582834	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147991100	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs150654176	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs201991639	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369131115	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906323	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs544500542	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs957176669	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Splice acceptor variant
rs1456237152	->GTGAGCGCAGG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017992	hsa-miR-335-5p	Microarray	18185580
MIRT022678	hsa-miR-124-3p	Microarray	18668037
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	27292025
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT761367	hsa-miR-1226-3p	PAR-CLIP	27292025
MIRT762018	hsa-miR-1273h-5p	PAR-CLIP	27292025
MIRT762293	hsa-miR-1292-3p	PAR-CLIP	27292025
MIRT762477	hsa-miR-130a-3p	PAR-CLIP	27292025
MIRT762496	hsa-miR-130b-3p	PAR-CLIP	27292025
MIRT762766	hsa-miR-149-3p	PAR-CLIP	27292025
MIRT762916	hsa-miR-1587	PAR-CLIP	27292025
MIRT763256	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT763537	hsa-miR-1976	PAR-CLIP	27292025
MIRT764060	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT764401	hsa-miR-301a-3p	PAR-CLIP	27292025
MIRT764419	hsa-miR-301b-3p	PAR-CLIP	27292025
MIRT764556	hsa-miR-30b-3p	PAR-CLIP	27292025
MIRT764828	hsa-miR-3123	PAR-CLIP	27292025
MIRT765406	hsa-miR-3192-5p	PAR-CLIP	27292025
MIRT765876	hsa-miR-3612	PAR-CLIP	27292025
MIRT766113	hsa-miR-3620-5p	PAR-CLIP	27292025
MIRT766335	hsa-miR-3653-5p	PAR-CLIP	27292025
MIRT766539	hsa-miR-3666	PAR-CLIP	27292025
MIRT766784	hsa-miR-3689a-3p	PAR-CLIP	27292025
MIRT766872	hsa-miR-3689b-3p	PAR-CLIP	27292025
MIRT766960	hsa-miR-3689c	PAR-CLIP	27292025
MIRT767349	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT767574	hsa-miR-384	PAR-CLIP	27292025
MIRT767658	hsa-miR-3919	PAR-CLIP	27292025
MIRT768098	hsa-miR-4257	PAR-CLIP	27292025
MIRT768283	hsa-miR-4279	PAR-CLIP	27292025
MIRT768453	hsa-miR-4295	PAR-CLIP	27292025
MIRT768657	hsa-miR-4326	PAR-CLIP	27292025
MIRT769714	hsa-miR-4492	PAR-CLIP	27292025
MIRT769748	hsa-miR-4498	PAR-CLIP	27292025
MIRT770061	hsa-miR-4530	PAR-CLIP	27292025
MIRT770116	hsa-miR-4537	PAR-CLIP	27292025
MIRT770235	hsa-miR-454-3p	PAR-CLIP	27292025
MIRT770255	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT770760	hsa-miR-4656	PAR-CLIP	27292025
MIRT770878	hsa-miR-4671-3p	PAR-CLIP	27292025
MIRT770893	hsa-miR-4675	PAR-CLIP	27292025
MIRT771401	hsa-miR-4714-3p	PAR-CLIP	27292025
MIRT771449	hsa-miR-4722-3p	PAR-CLIP	27292025
MIRT771681	hsa-miR-4728-5p	PAR-CLIP	27292025
MIRT771879	hsa-miR-4741	PAR-CLIP	27292025
MIRT772691	hsa-miR-490-3p	PAR-CLIP	27292025
MIRT772812	hsa-miR-498	PAR-CLIP	27292025
MIRT772902	hsa-miR-5001-3p	PAR-CLIP	27292025
MIRT772913	hsa-miR-5001-5p	PAR-CLIP	27292025
MIRT774659	hsa-miR-5571-3p	PAR-CLIP	27292025
MIRT775466	hsa-miR-6080	PAR-CLIP	27292025
MIRT775480	hsa-miR-6086	PAR-CLIP	27292025
MIRT776139	hsa-miR-634	PAR-CLIP	27292025
MIRT776184	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT776634	hsa-miR-650	PAR-CLIP	27292025
MIRT776754	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT777050	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT777851	hsa-miR-6727-3p	PAR-CLIP	27292025
MIRT778240	hsa-miR-6747-3p	PAR-CLIP	27292025
MIRT778861	hsa-miR-6779-5p	PAR-CLIP	27292025
MIRT778952	hsa-miR-6780a-5p	PAR-CLIP	27292025
MIRT779091	hsa-miR-6785-5p	PAR-CLIP	27292025
MIRT779278	hsa-miR-6791-3p	PAR-CLIP	27292025
MIRT779382	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT779966	hsa-miR-6829-3p	PAR-CLIP	27292025
MIRT779991	hsa-miR-6829-5p	PAR-CLIP	27292025
MIRT780041	hsa-miR-6836-3p	PAR-CLIP	27292025
MIRT780887	hsa-miR-6883-5p	PAR-CLIP	27292025
MIRT781317	hsa-miR-7106-5p	PAR-CLIP	27292025
MIRT781787	hsa-miR-762	PAR-CLIP	27292025
MIRT781938	hsa-miR-767-5p	PAR-CLIP	27292025
MIRT782188	hsa-miR-7851-3p	PAR-CLIP	27292025
MIRT782274	hsa-miR-7975	PAR-CLIP	27292025
MIRT782645	hsa-miR-922	PAR-CLIP	27292025

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Repression	21123766
NR5A2	Activation	15121760
SREBF2	Repression	21123766

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 32296183
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0007584	Process	Response to nutrient	IEA
GO:0007588	Process	Excretion	IGI	14504269
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015914	Process	Phospholipid transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATPase activity	IDA	16893193
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0038183	Process	Bile acid signaling pathway	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0055085	Process	Transmembrane transport	TAS
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269

Other IDs

• MIM: 605460
• HGNC: 13887
• e!Ensembl: ENSG00000143921

Protein

• UniProt ID: Q9H221
• Protein name: ATP-binding cassette sub-family G member 8 (EC 7.6.2.-) (Sterolin-2)
• Protein function: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356).
• PDB: 5DO7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	88 → 241	ABC transporter	Domain
  PF19055	ABC2_membrane_7	270 → 355	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	397 → 608	ABC-2 type transporter	Family

• Sequence:

  MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS
  QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG
  RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS
  QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
  SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM
  VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL
  WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH
  GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
  ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF
  CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF
  EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV
  SLRFIKQKPSQDW

• Sequence length: 673