Endometriosis Knowledgebase

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Gene id

9429

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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

ATP-binding cassette sub-family G member 2, 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-associated protein, multi drug,

Gene location

4q22.1 (88231416: 88090263) Exons: 20 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 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]

OMIM

603756

Protein Summary

Protein general information

Q9UNQ0

Name: 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)

Length: 655 Mass: 72,314

Tissue specificity: Highly expressed in placenta. Low expression in small intestine, liver and colon. {ECO

Sequence

MSSSNVEVFIPVSQGNTNGFPATASNDLKAFTEGAVLSFHNICYRVKLKSGFLPCRKPVEKEILSNINGIMKPGL
NAILGPTGGGKSSLLDVLAARKDPSGLSGDVLINGAPRPANFKCNSGYVVQDDVVMGTLTVRENLQFSAALRLAT
TMTNHEKNERINRVIQELGLDKVADSKVGTQFIRGVSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVL
LLLKRMSKQGRTIIFSIHQPRYSIFKLFDSLTLLASGRLMFHGPAQEALGYFESAGYHCEAYNNPADFFLDIING
DSTAVALNREEDFKATEIIEPSKQDKPLIEKLAEIYVNSSFYKETKAELHQLSGGEKKKKITVFKEISYTTSFCH
QLRWVSKRSFKNLLGNPQASIAQIIVTVVLGLVIGAIYFGLKNDSTGIQNRAGVLFFLTTNQCFSSVSAVELFVV
EKKLFIHEYISGYYRVSSYFLGKLLSDLLPMRMLPSIIFTCIVYFMLGLKPKADAFFVMMFTLMMVAYSASSMAL
AIAAGQSVVSVATLLMTICFVFMMIFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGN
NPCNYATCTGEEYLVKQGIDLSPWGLWKNHVALACMIVIFLTIAYLKLLFLKKYS

Structural information

Protein Domains	ABC (37-286) ABC (389-651)
Interpro:	IPR003593 IPR013525 IPR003439 IPR030256 IPR027417
Prosite:	PS50893
Pfam:	PF01061 PF00005
DIP:	29162
MINT:	2840423
STRING:	ENSP00000237612;

Other Databases

GeneCards: ABCG2; Malacards: ABCG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005215	transporter activity	TAS	molecular_function
GO:0005215	transporter activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006855	drug transmembrane transp ort	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	TAS	biological_process
GO:0008559	xenobiotic-transporting A TPase activity	TAS	molecular_function
GO:0010039	response to iron ion	IEA	biological_process
GO:0015232	heme transporter activity	TAS	molecular_function
GO:0015886	heme transport	IEA	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0031966	mitochondrial membrane	IEA	cellular_component
GO:0042493	response to drug	TAS	biological_process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular_function
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0042908	xenobiotic transport	IEA	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046618	drug export	IEA	biological_process
GO:0051593	response to folic acid	IEA	biological_process
GO:0060136	embryonic process involve d in female pregnancy	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0005215	transporter activity	TAS	molecular_function
GO:0005215	transporter activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0006855	drug transmembrane transp ort	IEA	biological_process
GO:0006879	cellular iron ion homeost asis	TAS	biological_process
GO:0008559	xenobiotic-transporting A TPase activity	TAS	molecular_function
GO:0010039	response to iron ion	IEA	biological_process
GO:0015232	heme transporter activity	TAS	molecular_function
GO:0015238	drug transmembrane transp orter activity	IEA	molecular_function
GO:0015886	heme transport	IEA	biological_process
GO:0015893	drug transport	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016887	ATPase activity	IEA	molecular_function
GO:0031966	mitochondrial membrane	IEA	cellular_component
GO:0042493	response to drug	TAS	biological_process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular_function
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0042908	xenobiotic transport	IEA	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046618	drug export	IEA	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0051593	response to folic acid	IEA	biological_process
GO:0060136	embryonic process involve d in female pregnancy	IEA	biological_process
GO:0071549	cellular response to dexa methasone stimulus	IEA	biological_process
GO:0005215	transporter activity	TAS	molecular_function
GO:0005215	transporter activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005886	plasma membrane	IBA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006879	cellular iron ion homeost asis	TAS	biological_process
GO:0008559	xenobiotic-transporting A TPase activity	TAS	molecular_function
GO:0015232	heme transporter activity	TAS	molecular_function
GO:0016021	integral component of mem brane	TAS	cellular_component
GO:0042493	response to drug	TAS	biological_process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	TAS	molecular_function
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process
GO:0046415	urate metabolic process	IMP	biological_process

KEGG pathways

hsa04976  Bile secretion
hsa01523  Antifolate resistance
hsa02010  ABC transporters

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 19141999
Atherosclerosis	PMID: 17569884
Cancer	PMID: 12960109
Endometriosis	PMID: 26753483
Epilepsy	PMID: 19167193
Gastrointestinal Stromal Tumors	PMID: 18981009
Gout	PMID: 18834626
Lymphoma	PMID: 19032367
Myocardial infarction	PMID: 17569884
Neutropenia	PMID: 19074750
Preeclampsia	PMID: 25446997
Endometriosis	INFBASE22925688

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26753483	Endometrio sis						Show abstract
22925688	Endometrio sis					ABCG2	Show abstract