Gene Gene information from NCBI Gene database.
Entrez ID 9429
Gene name ATP binding cassette subfamily G member 2 (JR blood group)
Gene symbol ABCG2
Synonyms (NCBI Gene)
ABC15ABCPBCRPBCRP1BMDPCD338CDw338CDw388EST157481GOUT1MRXMXRMXR-1MXR1UAQTL1
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
SNPs SNP information provided by dbSNP.
5
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 miRNA information provided by mirtarbase database.
136
miRTarBase ID miRNA Experiments Reference
MIRT001952 hsa-miR-520h Luciferase reporter assay 18189265
MIRT000998 hsa-miR-519c-3p Western blotLuciferase reporter assayqRT-PCR 18573883
MIRT000998 hsa-miR-519c-3p Luciferase reporter assay 19825807
MIRT001952 hsa-miR-520h Luciferase reporter assay 19825807
MIRT000081 hsa-miR-328-3p Review 20026422
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
AHR Unknown 20460431
ESR1 Unknown 10342828
MSX2 Unknown 21465479
NFKB1 Activation 10342828
PGR Unknown 22348324
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 18056989, 19909340, 26065921
GO:0005524 Function ATP binding IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603756 74 ENSG00000118777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 t
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:
PDB 5NJ3 , 5NJG , 6ETI , 6FEQ , 6FFC , 6HBU , 6HCO , 6HIJ , 6HZM , 6VXF , 6VXH , 6VXI , 6VXJ , 7NEQ , 7NEZ , 7NFD , 7OJ8 , 7OJH , 7OJI , 8BHT , 8BI0 , 8P7W , 8P8A , 8P8J , 8PXO , 8PY4 , 8Q7B , 8QCM , 8U2C
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
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta (PubMed:9850061). Low expression in small intestine, liver and colon (PubMed:9861027). Expressed in brain (at protein level) (PubMed:12958161). {ECO:0000269|PubMed:12958161, ECO:0000269|PubMed:9850061, ECO:
Sequence
Sequence length 655
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Antifolate resistance
ABC transporters
Bile secretion
Folate transport and metabolism
  Heme biosynthesis
Heme degradation
Iron uptake and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
32
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCG2-related disorder Likely benign; Benign; Affects; association; drug response rs771907414, rs138606116, rs45605536, rs2231138, rs2231137, rs2231142 RCV003974257
RCV003942025
RCV003932008
RCV003981847
RCV003982848
RCV003982849
BLOOD GROUP, JUNIOR SYSTEM Affects; association; Likely benign; Conflicting classifications of pathogenicity; drug response rs200190472, rs387906869, rs72552713, rs2231137, rs140207606, rs387906870, rs2231142 RCV000023333
RCV000023334
RCV000023336
RCV000023338
RCV000023339
RCV000023340
RCV000023342
Gastric cancer Likely benign rs138606116 RCV005933224
Gemcitabine response drug response rs2231142 RCV000851365
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15146167, 34065402
Adenocarcinoma of Lung Associate 24528019, 32142727
Adenoma Inhibit 25793771
Adrenocortical Carcinoma Inhibit 36555598
Adult i Blood Group with Congenital Cataract Associate 33003314
Alzheimer Disease Associate 33115695
Amyotrophic Lateral Sclerosis Associate 31999342
Anemia sideroblastic spinocerebellar ataxia Associate 30765471
Anorexia Associate 34924131
Arthritis Gouty Associate 26552468, 31367212, 35939175, 36221101