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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64240
Gene name	ATP binding cassette subfamily G member 5
Gene symbol	ABCG5
Synonyms (NCBI Gene)	STSLSTSL2
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT724539	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT724538	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT724537	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT724536	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT724535	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT724534	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT724533	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT1923805	hsa-miR-34b	CLIP-seq
MIRT1923806	hsa-miR-362-5p	CLIP-seq
MIRT1923807	hsa-miR-500a	CLIP-seq
MIRT1923808	hsa-miR-500b	CLIP-seq
MIRT1923809	hsa-miR-584	CLIP-seq
MIRT1923810	hsa-miR-668	CLIP-seq
MIRT1923811	hsa-miR-873	CLIP-seq
MIRT1923807	hsa-miR-500a	CLIP-seq

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

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	16870176, 17474147, 27144356
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:0010212	Process	Response to ionizing radiation	IEA
GO:0010949	Process	Negative regulation of intestinal phytosterol absorption	IMP	11099417
GO:0014850	Process	Response to muscle activity	IEA
GO:0015918	Process	Sterol transport	IEA
GO:0015918	Process	Sterol transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
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	IMP	11099417, 27144356
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IBA
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	IDA	16893193, 27144356
GO:0043235	Component	Receptor complex	IDA	14504269
GO:0043235	Component	Receptor complex	IEA
GO:0045177	Component	Apical part of cell	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: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

MIM	HGNC	e!Ensembl
605459	13886	ENSG00000138075

Q9H222

Protein name

ATP-binding cassette sub-family G member 5 (EC 7.6.2.-) (Sterolin-1)

Protein function

ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and

PDB

5DO7 , 7JR7 , 7R87 , 7R88 , 7R89 , 7R8A , 7R8B , 8CUB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00005	ABC_tran	69 → 221	ABC transporter	Domain
PF19055	ABC2_membrane_7	250 → 362	ABC-2 type transporter	Family
PF01061	ABC2_membrane	366 → 580	ABC-2 type transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in the liver, lower levels in the small intestine and colon. {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11138003}.

Sequence

MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC
RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL
RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV
ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR
RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF
YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD
SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV
GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM
IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA
GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC
AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR

Sequence length

651

Interactions

View interactions

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

916

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCG5-related disorder	Pathogenic; Likely pathogenic	rs119479066, rs119480069	RCV003415656 RCV004752684
Abnormal circulating lipid concentration	Pathogenic	rs781098379	RCV002283584
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs140111105, rs768019354, rs781098379, rs2466150084, rs145300824, rs119480069, rs754944896, rs1470569820, rs762031825	RCV004038481 RCV002382475 RCV004047564 RCV002383671 RCV003162174 RCV002326665 RCV004306864 RCV004355152 RCV002346209
Hypercholesterolemia	Pathogenic	rs781098379	RCV002282969
Short-rib thoracic dysplasia 15 with polydactyly	Likely pathogenic	rs2466053172	RCV003336012
Sitosterolemia	Likely pathogenic; Pathogenic	rs370368811, rs140111105, rs780744534, rs755809709, rs781098379, rs1404218188, rs575266356, rs145300824, rs1171022283, rs119479065, rs119480069, rs2465951776, rs2465896835, rs869025350, rs1428480606 View all (5 more)	RCV005100306 RCV001379567 RCV001449803 RCV001968898 RCV001948755 RCV005096030 RCV002651457 RCV002634369 RCV003122695 RCV002578084 RCV003505078 RCV001232197 RCV002875983 RCV003022620 RCV000208063 RCV003506210 RCV003506686 RCV003611056 RCV003611425 RCV003612136 RCV003611543 RCV003505154
Sitosterolemia 1	Likely pathogenic; Pathogenic	rs762031825	RCV002245833
Sitosterolemia 2	Pathogenic; Likely pathogenic	rs140111105, rs145300824, rs119479065, rs119479066, rs119479067, rs119480069, rs119480070, rs754944896, rs2466053172, rs1482373824, rs387906912, rs1558738919	RCV002466677 RCV005636838 RCV000005264 RCV000005265 RCV000005266 RCV000005267 RCV000005268 RCV000005269 RCV004796795 RCV003336012 RCV003984959 RCV000023441 RCV001534613

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance	rs778172526	RCV001270500
Acute myeloid leukemia	Benign	rs17031687	RCV005921714
Cervical cancer	Benign	rs17031687	RCV005921716
Hyperuricemic nephropathy, familial juvenile type 4	Conflicting classifications of pathogenicity	rs145164937	RCV001836763
Malignant tumor of esophagus	Benign	rs17031687, rs78070897	RCV005921715 RCV005896184
Sarcoma	Benign	rs17031687, rs78070897	RCV005921717 RCV005896185
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	rs56204478, rs150401285, rs764907076, rs778172526	RCV000852225 RCV000852063 RCV000852214 RCV001270500

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	33228147
Bernard Soulier Syndrome	Associate	27291889
Blood Coagulation Disorders	Associate	40629026
Cholelithiasis	Associate	20497293, 23406058, 24256507, 24657701, 27203212, 27981300, 36981027, 37914780
Colorectal Neoplasms	Associate	20135722
Coronary Artery Disease	Associate	15375183, 21966275, 32702746, 32862661
Diabetes Mellitus	Associate	35730985
Familial Mediterranean Fever	Associate	27170062
Gallbladder Diseases	Associate	25920552
Gallstones	Stimulate	18007013
Gallstones	Associate	23406058, 24256507, 24657701, 32702746
Hematologic Diseases	Associate	24166850
Hypercholesterolemia	Associate	14703505, 32641618, 32713907, 35705271, 35730985, 36991406, 38122934
Hyperlipoproteinemia Type II	Associate	14703505, 20172523, 25414277, 30269829, 31327807, 31901240, 32759540, 33994402, 34011801, 36648309, 38122934
Immunologic Deficiency Syndromes	Associate	32862661
Insulin Resistance	Associate	15175352
Lung Neoplasms	Associate	25683935
Myocardial Infarction	Associate	24657701, 37914780
Neoplasms	Associate	20135722, 24346092
Neoplastic Syndromes Hereditary	Associate	33217855
Overweight	Associate	23406058
Prostatic Neoplasms	Associate	25864488
Sick Sinus Syndrome	Associate	20135722
Sitosterolemia	Associate	14769702, 15375183, 16507104, 20719861, 22297561, 24166850, 26813946, 27170062, 29055934, 31327807, 31901240, 32641618, 32713907, 32862661, 33217855, 33228147, 34887220, 35730985 View all (3 more)
Thrombophilia Hereditary Due To Protein S Deficiency Autosomal Dominant	Associate	32862661
Xanthomatosis	Associate	22297561, 34887220

ABCG5 (ATP binding cassette subfamily G member 5)