Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9429
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily G member 2 (JR blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCG2
Synonyms (NCBI Gene) Gene synonyms aliases
ABC15, ABCP, BCRP, BCRP1, BMDP, CD338, CDw338, CDw388, EST157481, GOUT1, MRX, MXR, MXR-1, MXR1, UAQTL1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT001952 hsa-miR-520h Luciferase reporter assay 18189265
MIRT000998 hsa-miR-519c-3p Western blot, Luciferase reporter assay, qRT-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 factor Regulation Reference
AHR Unknown 20460431
ESR1 Unknown 10342828
MSX2 Unknown 21465479
NFKB1 Activation 10342828
PGR Unknown 22348324
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603756 74 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 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Hyperuricemia Hyperuricemia GWAS
Urolithiasis Urolithiasis GWAS
Dental caries Dental caries GWAS
Associations from Text Mining
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