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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64240
Gene name Gene Name - the full gene name approved by the HGNC.	ATP binding cassette subfamily G member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ABCG5
Synonyms (NCBI Gene) Gene synonyms aliases	STSL, STSL2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p21
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(22)

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

Transcription factors

Show/Hide all(3)

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Sitosterolemia	Sitosterolemia 2, sitosterolemia, Sitosterolemia 1	rs387906912, rs869025350, rs1558738919, rs119479065, rs762031825, rs119479066, rs119479067, rs119480069, rs119480070	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hyperuricemic Nephropathy	Hyperuricemic nephropathy, familial juvenile type 4	N/A	N/A	ClinVar
Pancreatitis	Acute pancreatitis	N/A	N/A	GWAS
thrombocytopenia	Thrombocytopenia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)