• Gene id: 9429

Gene Summary

• Gene Symbol: ABCG2   Gene   UCSC   Ensembl
• Aliases: ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, EST157481, GOUT1, MRX, MXR, MXR-1, MXR1, UAQTL1
• Gene name: ATP binding cassette subfamily G member 2 (Junior blood group)
• Alternate names: broad substrate specificity ATP-binding cassette transporter ABCG2, ABC transporter, ATP-binding cassette transporter G2, ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group), breast cancer resistance protein, mitoxantrone resistance-assoc,
• Gene location: 4q22.1 (88231625: 88090263)     Exons: 21     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 604032

Protein Summary

• Protein general information: Q9UNQ0  
  • 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 t
  • Length: 655  
  • Mass: 72314
  • Tissue specificity: Highly expressed in placenta (PubMed
• Sequence:

  MSSSNVEVFIPVSQGNTNGFPATASNDLKAFTEGAVLSFHNICYRVKLKSGFLPCRKPVEKEILSNINGIMKPGL
  NAILGPTGGGKSSLLDVLAARKDPSGLSGDVLINGAPRPANFKCNSGYVVQDDVVMGTLTVRENLQFSAALRLAT
  TMTNHEKNERINRVIQELGLDKVADSKVGTQFIRGVSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVL
  LLLKRMSKQGRTIIFSIHQPRYSIFKLFDSLTLLASGRLMFHGPAQEALGYFESAGYHCEAYNNPADFFLDIING
  DSTAVALNREEDFKATEIIEPSKQDKPLIEKLAEIYVNSSFYKETKAELHQLSGGEKKKKITVFKEISYTTSFCH
  QLRWVSKRSFKNLLGNPQASIAQIIVTVVLGLVIGAIYFGLKNDSTGIQNRAGVLFFLTTNQCFSSVSAVELFVV
  EKKLFIHEYISGYYRVSSYFLGKLLSDLLPMRMLPSIIFTCIVYFMLGLKPKADAFFVMMFTLMMVAYSASSMAL
  AIAAGQSVVSVATLLMTICFVFMMIFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGN
  NPCNYATCTGEEYLVKQGIDLSPWGLWKNHVALACMIVIFLTIAYLKLLFLKKYS

• Structural information:
  • Protein Domains: (37..28-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (389..65-)
    type-2" (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR013525  IPR003439  IPR030256  IPR027417  
  • Prosite: PS50893
  • PDB: 5NJ3 5NJG 6ETI 6FEQ 6FFC 6HBU 6HCO 6HIJ 6HZM
  • PDBsum: 5NJ3 5NJG 6ETI 6FEQ 6FFC 6HBU 6HCO 6HIJ 6HZM
  • DIP: 29162
  • STRING: ENSP00000237612
• Other Databases: GeneCards:  ABCG2  Malacards:  ABCG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990962	xenobiotic transport across blood-brain barrier	IDA	biological process
GO:1990962	xenobiotic transport across blood-brain barrier	IC	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0042910	xenobiotic transmembrane transporter activity	ISS	molecular function
GO:0070633	transepithelial transport	IDA	biological process
GO:0015562	efflux transmembrane transporter activity	ISS	molecular function
GO:0140115	export across plasma membrane	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0098591	external side of apical plasma membrane	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0055085	transmembrane transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0032218	riboflavin transport	IDA	biological process
GO:0045121	membrane raft	IDA	cellular component
GO:0031526	brush border membrane	IDA	cellular component
GO:0032217	riboflavin transmembrane transporter activity	IDA	molecular function
GO:0015225	biotin transmembrane transporter activity	ISS	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IMP	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IMP	molecular function
GO:0015143	urate transmembrane transporter activity	IMP	molecular function
GO:0015562	efflux transmembrane transporter activity	IMP	molecular function
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0015878	biotin transport	ISS	biological process
GO:0015562	efflux transmembrane transporter activity	IMP	molecular function
GO:0055085	transmembrane transport	IMP	biological process
GO:0055085	transmembrane transport	IMP	biological process
GO:0097744	urate salt excretion	IMP	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008559	ATPase-coupled xenobiotic transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0046415	urate metabolic process	IMP	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:1990748	cellular detoxification	IDA	biological process
GO:0008559	ATPase-coupled xenobiotic transmembrane transporter activity	IDA	molecular function
GO:0015747	urate transport	IEA	biological process
GO:0046415	urate metabolic process	IMP	biological process
GO:0046415	urate metabolic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04976	Bile secretion
hsa02010	ABC transporters
hsa01523	Antifolate resistance

Diseases

Associated diseases	References
Gout	PMID:19506252
Breast carcinoma	PMID:11948115
renal cell carcinoma	PMID:15906349
B-cell lymphoma	PMID:21918980
chronic myeloid leukemia	PMID:26250462
chronic myeloid leukemia	PMID:24581936
chronic myeloid leukemia	PMID:24123600
megakaryocytic leukemia	PMID:21640380
acute myeloid leukemia	PMID:26512967
acute myeloid leukemia	PMID:12145683
multiple myeloma	PMID:16917002
multiple myeloma	PMID:26314844
acute lymphocytic leukemia	PMID:15521915
acute lymphocytic leukemia	PMID:12100141
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq