ABCG2 (ATP binding cassette subfamily G member 2 (Junior blood group))

Gene

• Entrez ID: 9429
• Gene name: ATP binding cassette subfamily G member 2 (Junior blood group)
• Gene symbol: ABCG2
• Synonyms: ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, EST157481, GOUT1, MRX, MXR, MXR-1, MXR1, UAQTL1
• Chromosome: 4
• Chromosome location: 4q22.1
• Summary: The membrane-associated protein encoded by this gene is included in 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. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2231137	C>T	Association, affects	Coding sequence variant, missense variant
rs2231142	G>C,T	Not-provided, association, drug-response	Coding sequence variant, missense variant
rs200190472	G>A	Affects	Coding sequence variant, stop gained
rs387906869	TG>-	Affects	Coding sequence variant, frameshift variant
rs387906870	AA>-	Affects	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000081	hsa-miR-328-3p	Luciferase reporter assay, qRT-PCR, Western blot, Reporter assay;Western blot;qRT-PCR;Other	19270061
MIRT000081	hsa-miR-328-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	21219875
MIRT000081	hsa-miR-328-3p	Luciferase reporter assay, qRT-PCR, Western blot	22453125
MIRT000998	hsa-miR-519c-3p	Western blot, Luciferase reporter assay, qRT-PCR	18573883
MIRT000998	hsa-miR-519c-3p	Luciferase reporter assay	19825807
MIRT000998	hsa-miR-519c-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	21219875
MIRT001952	hsa-miR-520h	Luciferase reporter assay, Microarray	18189265
MIRT001952	hsa-miR-520h	Luciferase reporter assay	19825807
MIRT001952	hsa-miR-520h	qRT-PCR, Western blot	20628378
MIRT004129	hsa-miR-192-5p	Microarray	16822819
MIRT029929	hsa-miR-26b-5p	Microarray	19088304
MIRT047731	hsa-miR-10a-5p	CLASH	23622248
MIRT437399	hsa-miR-181a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23780685
MIRT437871	hsa-miR-142-3p	Luciferase reporter assay, Western blot	23619912
MIRT438649	hsa-miR-487a-3p	Luciferase reporter assay, qRT-PCR, Western blot	23879965
MIRT444279	hsa-miR-374b-5p	PAR-CLIP	22100165
MIRT444280	hsa-miR-374a-5p	PAR-CLIP	22100165
MIRT444281	hsa-miR-889-3p	PAR-CLIP	22100165
MIRT444282	hsa-miR-876-5p	PAR-CLIP	22100165
MIRT444283	hsa-miR-3167	PAR-CLIP	22100165
MIRT444284	hsa-miR-4635	PAR-CLIP	22100165
MIRT444285	hsa-miR-195-3p	PAR-CLIP	22100165
MIRT444286	hsa-miR-16-2-3p	PAR-CLIP	22100165
MIRT444287	hsa-miR-5692b	PAR-CLIP	22100165
MIRT444288	hsa-miR-5692c	PAR-CLIP	22100165
MIRT444289	hsa-miR-369-3p	PAR-CLIP	22100165
MIRT526188	hsa-miR-7158-3p	PAR-CLIP	22012620
MIRT526189	hsa-miR-340-5p	PAR-CLIP	22012620
MIRT526190	hsa-miR-4539	PAR-CLIP	22012620
MIRT526191	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT526192	hsa-miR-4724-5p	PAR-CLIP	22012620
MIRT526193	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT733347	hsa-miR-222-3p	Luciferase reporter assay, Western blot	26517090
MIRT733390	hsa-miR-212-3p	Luciferase reporter assay	25766675
MIRT733728	hsa-miR-320a	Luciferase reporter assay, Western blot	28008607
MIRT733729	hsa-miR-4496	Luciferase reporter assay, Western blot	28008607

Transcription factors

Transcription factor	Regulation	Reference
AHR	Unknown	20460431
ESR1	Unknown	10342828
MSX2	Unknown	21465479
NFKB1	Activation	10342828
PGR	Unknown	22348324
PPARG	Activation	16785230
RELA	Activation	10342828
SALL4A	Unknown	21526180
SMARCA4	Activation	18234970
SP1	Unknown	21465479

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18056989, 19909340
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	18619525, 23137377
GO:0005886	Component	Plasma membrane	TAS
GO:0006879	Process	Cellular iron ion homeostasis	TAS
GO:0008514	Function	Organic anion transmembrane transporter activity	ISS
GO:0008559	Function	ABC-type xenobiotic transporter activity	IDA	9861027
GO:0015143	Function	Urate transmembrane transporter activity	IMP	19506252
GO:0015225	Function	Biotin transmembrane transporter activity	ISS
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	17145775, 19506252
GO:0015562	Function	Efflux transmembrane transporter activity	ISS
GO:0015711	Process	Organic anion transport	ISS
GO:0015747	Process	Urate transport	IEA
GO:0015878	Process	Biotin transport	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0031526	Component	Brush border membrane	IDA	19506252
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032217	Function	Riboflavin transmembrane transporter activity	IDA	17145775
GO:0032218	Process	Riboflavin transport	IDA	17145775
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IMP	28554189, 30405239
GO:0042802	Function	Identical protein binding	IPI	16870176, 17098188, 19506252, 20399185
GO:0042803	Function	Protein homodimerization activity	IDA	16870176
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS
GO:0045121	Component	Membrane raft	IDA	28623970
GO:0046415	Process	Urate metabolic process	IMP	18834626, 19503597, 20053405
GO:0055085	Process	Transmembrane transport	IMP	28554189, 30405239
GO:0070633	Process	Transepithelial transport	IDA	12958161
GO:0097744	Process	Urate salt excretion	IMP	19506252
GO:0098591	Component	External side of apical plasma membrane	ISS	18619525
GO:0140115	Process	Export across plasma membrane	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1990748	Process	Cellular detoxification	IDA	9861027
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IC
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IDA	12958161

Other IDs

• MIM: 603756
• HGNC: 74
• e!Ensembl: ENSG00000118777

Protein

• UniProt ID: Q9UNQ0
• Protein name: Broad substrate specificity ATP-binding cassette transporter ABCG2 (EC 7.6.2.2) (ATP-binding cassette sub-family G member 2) (Breast cancer resistance protein) (CDw338) (Mitoxantrone resistance-associated protein) (Placenta-specific ATP-binding cassette transporter) (Urate exporter) (CD antigen CD338)
• Protein function: Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells (PubMed:11306452, PubMed:12958161, PubMed:19506252, PubMed:20705604, PubMed:28554189, PubMed:30405239, PubMed:31003562). Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme (PubMed:20705604, PubMed:23189181). Also mediates the efflux of sphingosine-1-P from cells (PubMed:20110355). Acts as a urate exporter functioning in both renal and extrarenal urate excretion (PubMed:19506252, PubMed:20368174, PubMed:22132962, PubMed:31003562). In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate (By similarity). Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates (PubMed:12682043, PubMed:28554189, PubMed:30405239). Mediates the secretion of the riboflavin and biotin vitamins into milk (By similarity). Extrudes pheophorbide a, a phototoxic porphyrin catabolite of chlorophyll, reducing its bioavailability (By similarity). Plays an important role in the exclusion of xenobiotics from the brain (Probable). It confers to cells a resistance to multiple drugs and other xenobiotics including mitoxantrone, pheophorbide, camptothecin, methotrexate, azidothymidine, and the anthracyclines daunorubicin and doxorubicin, through the control of their efflux (PubMed:11306452, PubMed:12477054, PubMed:15670731, PubMed:18056989, PubMed:31254042). In placenta, it limits the penetration of drugs from the maternal plasma into the fetus (By similarity). May play a role in early stem cell self-renewal by blocking differentiation (By similarity).
• PDB: 5NJ3, 5NJG, 6ETI, 6FEQ, 6FFC, 6HBU, 6HCO, 6HIJ, 6HZM, 6VXF, 6VXH, 6VXI, 6VXJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00005	ABC_tran	64 → 214	ABC transporter	Domain
  PF19055	ABC2_membrane_7	243 → 321	ABC-2 type transporter	Family
  PF01061	ABC2_membrane	375 → 586	ABC-2 type transporter	Family

• Sequence:

  MSSSNVEVFIPVSQGNTNGFPATASNDLKAFTEGAVLSFHNICYRVKLKSGFLPCRKPVE
  KEILSNINGIMKPGLNAILGPTGGGKSSLLDVLAARKDPSGLSGDVLINGAPRPANFKCN
  SGYVVQDDVVMGTLTVRENLQFSAALRLATTMTNHEKNERINRVIQELGLDKVADSKVGT
  QFIRGVSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLLLLKRMSKQGRTIIF
  SIHQPRYSIFKLFDSLTLLASGRLMFHGPAQEALGYFESAGYHCEAYNNPADFFLDIING
  DSTAVALNREEDFKATEIIEPSKQDKPLIEKLAEIYVNSSFYKETKAELHQLSGGEKKKK
  ITVFKEISYTTSFCHQLRWVSKRSFKNLLGNPQASIAQIIVTVVLGLVIGAIYFGLKNDS
  TGIQNRAGVLFFLTTNQCFSSVSAVELFVVEKKLFIHEYISGYYRVSSYFLGKLLSDLLP
  MRMLPSIIFTCIVYFMLGLKPKADAFFVMMFTLMMVAYSASSMALAIAAGQSVVSVATLL
  MTICFVFMMIFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGN
  NPCNYATCTGEEYLVKQGIDLSPWGLWKNHVALACMIVIFLTIAYLKLLFLKKYS

• Sequence length: 655