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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
46
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ABCG2-related disorder Likely benign; Benign; Affects; association; drug response ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 29179472
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10891476, 19635183, 21531129, 22826468, 2930840
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10891476, 12100141, 14574327, 15521915, 15630450, 17434155, 18243305, 21657963, 22037714, 24145140, 24324065, 27960630
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 21640380
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11986944, 15208643, 17368038, 26512967, 28618016
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10611345, 9815736
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15146167
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 26951883
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23709101, 24528019, 25603057, 29274627
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma CTD_human_DG 21544799
★☆☆☆☆
Found in Text Mining only