ABCG8 (ATP binding cassette subfamily G member 8)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64241
• Gene name: ATP binding cassette subfamily G member 8
• Gene symbol: ABCG8
• Synonyms (NCBI Gene): 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, M

SNPs Show/Hide all (22)

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 Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017992	hsa-miR-335-5p	Microarray	18185580
MIRT022678	hsa-miR-124-3p	Microarray	18668037
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	27292025
MIRT695824	hsa-miR-6778-3p	PAR-CLIP	27292025
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT724305	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT611785	hsa-miR-618	HITS-CLIP	19536157
MIRT611784	hsa-miR-8485	HITS-CLIP	19536157
MIRT611783	hsa-miR-603	HITS-CLIP	19536157
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	19536157
MIRT695855	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT695854	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT695853	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT695852	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT695851	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT695850	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT695849	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT695848	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT695847	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT695846	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT695845	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT695844	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT695843	hsa-miR-302e	HITS-CLIP	23313552
MIRT695842	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT695841	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT695840	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT695839	hsa-miR-520b	HITS-CLIP	23313552
MIRT695838	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT695837	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT695836	hsa-miR-520e	HITS-CLIP	23313552
MIRT695835	hsa-miR-4438	HITS-CLIP	23313552
MIRT695834	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT695833	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT695832	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT695831	hsa-miR-520h	HITS-CLIP	23313552
MIRT695830	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT695829	hsa-miR-1470	HITS-CLIP	23313552
MIRT695828	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT695827	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT695826	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT695825	hsa-miR-4290	HITS-CLIP	23313552
MIRT695824	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT695823	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT695822	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT695821	hsa-miR-5095	HITS-CLIP	23313552
MIRT695820	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT695819	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT626691	hsa-miR-26b-3p	HITS-CLIP	23824327
MIRT626690	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT626689	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT626688	hsa-miR-4420	HITS-CLIP	23824327
MIRT626687	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT611785	hsa-miR-618	HITS-CLIP	23824327
MIRT611784	hsa-miR-8485	HITS-CLIP	23824327
MIRT611783	hsa-miR-603	HITS-CLIP	23824327
MIRT611782	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT518736	hsa-miR-6808-5p	PAR-CLIP	23446348
MIRT518735	hsa-miR-6893-5p	PAR-CLIP	23446348
MIRT518734	hsa-miR-940	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518733	hsa-miR-6823-5p	PAR-CLIP	23446348
MIRT518732	hsa-miR-1827	PAR-CLIP	23446348
MIRT518731	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT518730	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT518729	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT518728	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT518727	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT518726	hsa-miR-6866-5p	PAR-CLIP	23446348
MIRT518725	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT518724	hsa-miR-5590-5p	PAR-CLIP	23446348
MIRT518723	hsa-miR-4659a-5p	PAR-CLIP	23446348
MIRT518722	hsa-miR-4659b-5p	PAR-CLIP	23446348
MIRT518721	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT759343	hsa-miR-1227	CLIP-seq
MIRT759344	hsa-miR-1298	CLIP-seq
MIRT759345	hsa-miR-331-3p	CLIP-seq
MIRT759346	hsa-miR-3665	CLIP-seq
MIRT759347	hsa-miR-4308	CLIP-seq
MIRT759348	hsa-miR-4715-3p	CLIP-seq
MIRT759349	hsa-miR-4760-3p	CLIP-seq
MIRT759350	hsa-miR-4762-5p	CLIP-seq
MIRT759351	hsa-miR-4786-3p	CLIP-seq
MIRT759352	hsa-miR-657	CLIP-seq
MIRT759353	hsa-miR-664	CLIP-seq
MIRT759354	hsa-miR-7	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq
MIRT2467348	hsa-miR-138	CLIP-seq
MIRT2467349	hsa-miR-4642	CLIP-seq

Transcription factors

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

Gene ontology (GO) Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16870176, 27144356, 32296183
GO:0005524	Function	ATP binding	IDA	16893193
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
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	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IMP	14504269
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016887	Function	ATP hydrolysis activity	IDA	16893193
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030299	Process	Intestinal cholesterol absorption	IC	12208868
GO:0031667	Process	Response to nutrient levels	IEA
GO:0033344	Process	Cholesterol efflux	IBA
GO:0033344	Process	Cholesterol efflux	IEA
GO:0033344	Process	Cholesterol efflux	IGI	14504269
GO:0033344	Process	Cholesterol efflux	IMP	27144356
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	27144356
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
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	IBA
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	IEA
GO:0045796	Process	Negative regulation of intestinal cholesterol absorption	IMP	11099417
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	16870176
GO:0046983	Function	Protein dimerization activity	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055092	Process	Sterol homeostasis	IEA
GO:0070328	Process	Triglyceride homeostasis	IEA
GO:0120020	Function	Cholesterol transfer activity	IBA
GO:0120020	Function	Cholesterol transfer activity	IEA
GO:0120020	Function	Cholesterol transfer activity	IGI	14504269
GO:0140359	Function	ABC-type transporter activity	IEA

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 th
• PDB: 5DO7 , 7JR7 , 7R87 , 7R88 , 7R89 , 7R8A , 7R8B , 8CUB
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the liver (PubMed:11099417, PubMed:11452359). Low expression levels in the small intestine and colon (PubMed:11099417). Very low levels in other tissues, including brain, heart and spleen (PubMed:11452359). {
• Sequence:

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

• Sequence length: 673

Pathways

KEGG Pathway	Reactome Pathway
ABC transporters	ABC transporters in lipid homeostasis
Fat digestion and absorption	Defective ABCG8 causes gallbladder disease 4 and sitosterolemia
Bile secretion	Defective ABCG5 causes sitosterolemia
Cholesterol metabolism	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

Associated diseases

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)

Causal Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ABCG8-related disorder	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs1426776095, rs544500542, rs934115584, rs1456237152	RCV003407277 RCV003407278 RCV003952343 RCV003410869 RCV003420036 RCV004742522 RCV004742533	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormal circulating lipid concentration	Pathogenic	rs2466292637	RCV002283587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs371646728, rs137852987, rs137852988, rs137852991, rs780072835	RCV005724774 RCV002426490 RCV002408452 RCV003298028 RCV005382518	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Early-onset coronary artery disease	Likely pathogenic; Pathogenic	rs137852988, rs2466203768	RCV005406725 RCV004765922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder disease 4	Likely pathogenic; Pathogenic	rs137852987	RCV002504749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sitosterolemia	Likely pathogenic; Pathogenic	rs137852987, rs137852988, rs137852991, rs544500542, rs1456237152, rs957176669	RCV000005255 RCV000005256 RCV000005260 RCV005357786 RCV005357791 RCV000602419	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762279471, rs1317214046, rs754182905, rs770023485, rs137852987, rs137852988, rs387906323, rs137852991, rs137852992, rs137852993, rs780072835, rs2466201941, rs770488528, rs137854891, rs544500542, rs934115584, rs1000291485, rs1456237152, rs957176669, rs748233241, rs1668974150	RCV002245433 RCV002272663 RCV002272852 RCV005636709 RCV000993693 RCV000993692 RCV000005259 RCV000993691 RCV000005261 RCV000005262 RCV005631076 RCV003141324 RCV003141367 RCV000032718 RCV002280880 RCV005630765 RCV001783098 RCV005632514 RCV001784224 RCV003989650 RCV001248858	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (39)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormal bleeding	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTITIS, ACUTE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTOLITHIASIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	17632509, 27094239, 30325047, 30504769, 30692554, 34594039, 34651315, 37965154, 39024449, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	11099417, 28714975, 29212778, 32469254, 33020668, 35285134, 36252120, 36474045, 37705021, 38965376, 39024449, 39537608	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENITIS	—	GWAS catalog	37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hemolytic anemia	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	34906840	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	CTD, GWAS catalog CTD, GWAS catalog	17632509, 27094239, 30325047, 30504769, 30692554, 34651315, 37705021	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS	—	GWAS catalog	37965154	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	35851147	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAHEPATIC CHOLESTASIS OF PREGNANCY	—	GWAS catalog	35977952	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	36180795	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	40069456	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	33893285	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	38072966	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	GWAS catalog	34594039, 36736436	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature coronary artery atherosclerosis	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining Show/Hide Text Mining Associations (108)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Hemolytic	Anemia	BEFREE	24623560		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11099417, 15175362, 18977479, 23165086, 24423340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11099417, 15175362, 18977479, 23165086, 24423340		★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	21062971		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21062971, 21274884		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	28696550		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17976197, 18977479, 19306529, 23165086, 23241408, 23707316		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18581044		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23241408	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ABCG5 9 shared diseasesThrombocytopenia, Hemolytic anemia, Arteriosclerosis, Cholecystolithiasis, Ischemic heart disease, Pancreatitis, Gallbladder disease, Gallstones, Sitosterolemia 8 shared pathwaysABC transporters, Fat digestion and absorption, Bile secretion, Cholesterol metabolism, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, ABC transporters in lipid homeostasis, Defective ABCG8 causes gallbladder disease 4 and sitosterolemia, Defective ABCG5 causes sitosterolemia 16 shared evidence sourcesDisgenet (Hemolytic anemia), Disgenet (Arteriosclerosis), GWAS catalog (Cholecystolithiasis), Disgenet (Ischemic heart disease), GWAS catalog (Pancreatitis), Disgenet (Coronary artery disease), CTD (Coronary artery disease), Disgenet (Gallbladder disease), GWAS catalog (Gallstones), CTD (Sitosterolemia), ClinGen (Sitosterolemia), ClinVar (Sitosterolemia) +4 more Related via 9 shared diseases including Thrombocytopenia, Hemolytic anemia — evidence mostly Disgenet. CYP7A1 5 shared diseasesCholecystolithiasis, Hyperlipidemia, Gallstones, Intrahepatic cholestasis of pregnancy, Liver disease 2 shared pathwaysBile secretion, Cholesterol metabolism 5 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Hyperlipidemia), GWAS catalog (Gallstones), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 5 shared diseases including Cholecystolithiasis, Hyperlipidemia — evidence mostly GWAS catalog. ABCB4 6 shared diseasesCholecystolithiasis, Pancreatitis, Gallbladder disease, Gallstones, Intrahepatic cholestasis of pregnancy, Liver disease 2 shared pathwaysABC transporters, Bile secretion 5 shared evidence sourcesGWAS catalog (Cholecystolithiasis), CTD (Gallbladder disease), GWAS catalog (Gallstones), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 6 shared diseases including Cholecystolithiasis, Pancreatitis — evidence mostly GWAS catalog. UBXN2B 5 shared diseasesCholecystolithiasis, Hyperlipidemia, Gallstones, Intrahepatic cholestasis of pregnancy, Liver disease 5 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Hyperlipidemia), GWAS catalog (Gallstones), GWAS catalog (Intrahepatic cholestasis of pregnancy), GWAS catalog (Liver disease) Related via 5 shared diseases including Cholecystolithiasis, Hyperlipidemia — evidence mostly GWAS catalog. ZC3HC1 4 shared diseasesIschemic heart disease, Gallstones, Heart disease, Large artery stroke 7 shared evidence sourcesDisgenet (Ischemic heart disease), Disgenet (Coronary artery disease), CTD (Coronary artery disease), GWAS catalog (Gallstones), GWAS catalog (Heart disease), GWAS catalog (Large artery stroke), GWAS catalog (Myocardial ischemia) Related via 4 shared diseases including Ischemic heart disease, Gallstones — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ABCG5	9	["Thrombocytopenia","Hemolytic anemia","Arteriosclerosis","Cholecystolithiasis","Ischemic heart disease","Pancreatitis","Gallbladder disease","Gallstones","Sitosterolemia"]	8	["ABC transporters","Fat digestion and absorption","Bile secretion","Cholesterol metabolism","NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux","ABC transporters in lipid homeostasis","Defective ABCG8 causes gallbladder disease 4 and sitosterolemia","Defective ABCG5 causes sitosterolemia"]	16	["Disgenet (Hemolytic anemia)","Disgenet (Arteriosclerosis)","GWAS catalog (Cholecystolithiasis)","Disgenet (Ischemic heart disease)","GWAS catalog (Pancreatitis)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","Disgenet (Gallbladder disease)","GWAS catalog (Gallstones)","CTD (Sitosterolemia)","ClinGen (Sitosterolemia)","ClinVar (Sitosterolemia)"]
CYP7A1	5	["Cholecystolithiasis","Hyperlipidemia","Gallstones","Intrahepatic cholestasis of pregnancy","Liver disease"]	2	["Bile secretion","Cholesterol metabolism"]	5	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Hyperlipidemia)","GWAS catalog (Gallstones)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]
ABCB4	6	["Cholecystolithiasis","Pancreatitis","Gallbladder disease","Gallstones","Intrahepatic cholestasis of pregnancy","Liver disease"]	2	["ABC transporters","Bile secretion"]	5	["GWAS catalog (Cholecystolithiasis)","CTD (Gallbladder disease)","GWAS catalog (Gallstones)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]
UBXN2B	5	["Cholecystolithiasis","Hyperlipidemia","Gallstones","Intrahepatic cholestasis of pregnancy","Liver disease"]	0	[]	5	["GWAS catalog (Cholecystolithiasis)","GWAS catalog (Hyperlipidemia)","GWAS catalog (Gallstones)","GWAS catalog (Intrahepatic cholestasis of pregnancy)","GWAS catalog (Liver disease)"]
ZC3HC1	4	["Ischemic heart disease","Gallstones","Heart disease","Large artery stroke"]	0	[]	7	["Disgenet (Ischemic heart disease)","Disgenet (Coronary artery disease)","CTD (Coronary artery disease)","GWAS catalog (Gallstones)","GWAS catalog (Heart disease)","GWAS catalog (Large artery stroke)","GWAS catalog (Myocardial ischemia)"]

Diseases Linked via Similar Genes

Hypercholesterolemia Linked via 2 of 5 related genesABCG5, CYP7A1 Stroke Linked via 2 of 5 related genesABCG5, ZC3HC1 Cholelithiasis Linked via 2 of 5 related genesCYP7A1, ABCB4 Esophageal squamous cell carcinoma Linked via 2 of 5 related genesCYP7A1, UBXN2B Schizophrenia Linked via 2 of 5 related genesABCB4, UBXN2B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hypercholesterolemia	2	["ABCG5","CYP7A1"]
Stroke	2	["ABCG5","ZC3HC1"]
Cholelithiasis	2	["CYP7A1","ABCB4"]
Esophageal squamous cell carcinoma	2	["CYP7A1","UBXN2B"]
Schizophrenia	2	["ABCB4","UBXN2B"]