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Aliases for ABCG2 Gene

Aliases for ABCG2 Gene

  • ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group) 2 3 5
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 2 (Junior Blood Group) 2 3
  • Placenta-Specific ATP-Binding Cassette Transporter 3 4
  • Mitoxantrone Resistance-Associated Protein 3 4
  • Breast Cancer Resistance Protein 3 4
  • Urate Exporter 3 4
  • CDw338 3 4
  • BCRP1 3 4
  • ABCP 3 4
  • BCRP 3 4
  • MXR 3 4
  • Multi Drug Resistance Efflux Transport ATP-Binding Cassette Sub-Family G (WHITE) Member 2 3
  • ATP-Binding Cassette, Sub-Family G (WHITE), Member 2 2
  • ATP-Binding Cassette Sub-Family G Member 2 3
  • ATP-Binding Cassette Transporter G2 3
  • Placenta Specific MDR Protein 3
  • ABC Transporter 3
  • CD338 Antigen 4
  • EST157481 3
  • UAQTL1 3
  • ABC15 3
  • CD338 3
  • GOUT1 3
  • MXR-1 3
  • BMDP 3
  • MXR1 3
  • MRX 3

External Ids for ABCG2 Gene

Previous GeneCards Identifiers for ABCG2 Gene

  • GC04M089170
  • GC04M089314
  • GC04M089471
  • GC04M089370
  • GC04M089230
  • GC04M089011
  • GC04M084757

Summaries for ABCG2 Gene

Entrez Gene Summary for ABCG2 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 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]

CIViC summary for ABCG2 Gene

GeneCards Summary for ABCG2 Gene

ABCG2 (ATP Binding Cassette Subfamily G Member 2 (Junior Blood Group)) is a Protein Coding gene. Diseases associated with ABCG2 include Blood Group, Junior System and Uric Acid Concentration, Serum, Quantitative Trait Locus 1. Among its related pathways are Erlotinib Pathway, Pharmacokinetics and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is ABCG4.

UniProtKB/Swiss-Prot for ABCG2 Gene

  • High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin.

Tocris Summary for ABCG2 Gene

  • ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.

Gene Wiki entry for ABCG2 Gene

Additional gene information for ABCG2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCG2 Gene

Genomics for ABCG2 Gene

GeneHancer (GH) Regulatory Elements for ABCG2 Gene

Promoters and enhancers for ABCG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J088157 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 655.5 +72.5 72470 2.5 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 TCF12 GLIS2 FOS ABCG2 RNU6-818P RNU6ATAC31P RPL31P24 GC04P088089
GH04J088230 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 650.7 +0.0 43 1.8 NFIC ABCG2 LOC105369192 PPM1K RNU6-112P LOC100129137 PIGY PYURF RNU6ATAC31P HERC3 RNU6-1298P
GH04J088244 Promoter/Enhancer 1 EPDnew Ensembl 650.4 -13.7 -13686 1 USF1 GABPB1 EHMT2 GABPA ABCG2 LOC105369192 RNU6-112P PPM1K HERC6 RNU6-818P LOC100129137 PIGY PYURF HERC3
GH04J088142 Enhancer 0.8 ENCODE 4.7 +85.2 85156 6.6 PKNOX1 FOXA2 NFIB ARNT ZNF133 NEUROD1 FEZF1 ZNF335 ZNF366 SCRT2 RNU6-818P RNU6ATAC31P LOC105369192 ABCG2 RPL31P24 GC04P088089
GH04J088212 Enhancer 0.6 ENCODE 0.4 +19.3 19283 0.1 MEIS2 CTCF ZNF654 RB1 TRIM22 NCOA1 REST RAD21 CC2D1A GATA3 GC04M088207 RNU6ATAC31P ENSG00000251285 ABCG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABCG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABCG2 gene promoter:

Genomic Locations for ABCG2 Gene

Genomic Locations for ABCG2 Gene
chr4:88,090,264-88,231,417
(GRCh38/hg38)
Size:
141,154 bases
Orientation:
Minus strand
chr4:89,011,416-89,152,474
(GRCh37/hg19)

Genomic View for ABCG2 Gene

Genes around ABCG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCG2 Gene

Proteins for ABCG2 Gene

  • Protein details for ABCG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNQ0-ABCG2_HUMAN
    Recommended name:
    ATP-binding cassette sub-family G member 2
    Protein Accession:
    Q9UNQ0
    Secondary Accessions:
    • A0A1W3
    • A8K1T5
    • O95374
    • Q4W5I3
    • Q53ZQ1
    • Q569L4
    • Q5YLG4
    • Q86V64
    • Q8IX16
    • Q96LD6
    • Q96TA8
    • Q9BY73
    • Q9NUS0

    Protein attributes for ABCG2 Gene

    Size:
    655 amino acids
    Molecular mass:
    72314 Da
    Quaternary structure:
    • Monomer under reducing conditions, the minimal functional units is a homodimer; disulfide-linked, but the major oligomeric form in plasma membranes is a homotetramer with possibility of higher order oligomerization up to homododecamers.
    Miscellaneous:
    • When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin.
    SequenceCaution:
    • Sequence=AF093771; Type=Frameshift; Positions=486, 586; Evidence={ECO:0000305}; Sequence=AF093772; Type=Frameshift; Positions=386, 502, 586; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ABCG2 Gene

    Alternative splice isoforms for ABCG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCG2 Gene

Post-translational modifications for ABCG2 Gene

  • Glycosylation-deficient ABCG2 is normally expressed and functional.
  • Glycosylation at posLast=596596
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABCG2 Gene

Domains & Families for ABCG2 Gene

Gene Families for ABCG2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ABCG2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNQ0

UniProtKB/Swiss-Prot:

ABCG2_HUMAN :
  • The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin.
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
Domain:
  • The extracellular loop 3 (ECL3) is involved in binding porphyrins and transfer them to other carriers, probably albumin.
Family:
  • Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily.
genes like me logo Genes that share domains with ABCG2: view

Function for ABCG2 Gene

Molecular function for ABCG2 Gene

UniProtKB/Swiss-Prot Function:
High-capacity urate exporter functioning in both renal and extrarenal urate excretion. Plays a role in porphyrin homeostasis as it is able to mediates the export of protoporhyrin IX (PPIX) both from mitochondria to cytosol and from cytosol to extracellular space, and cellular export of hemin, and heme. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. Implicated in the efflux of numerous drugs and xenobiotics: mitoxantrone, the photosensitizer pheophorbide, camptothecin, methotrexate, azidothymidine (AZT), and the anthracyclines daunorubicin and doxorubicin.
UniProtKB/Swiss-Prot Induction:
Up-regulated in brain tumors.
GENATLAS Biochemistry:
ATP binding cassette superfamily,subfamily G (WHITE),member 2,multidrug resistance transporter,expressed in the placenta,involved in transport of specific molecules into or out the placenta,homolog to Drosophila white and yeast ADP1 gene

Phenotypes From GWAS Catalog for ABCG2 Gene

Gene Ontology (GO) - Molecular Function for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity TAS 9850061
GO:0005515 protein binding IPI 18056989
GO:0005524 ATP binding IEA --
GO:0008559 xenobiotic transmembrane transporting ATPase activity TAS 9861027
GO:0015232 heme transporter activity TAS --
genes like me logo Genes that share ontologies with ABCG2: view
genes like me logo Genes that share phenotypes with ABCG2: view

Animal Models for ABCG2 Gene

MGI Knock Outs for ABCG2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCG2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG2

Clone Products

  • Addgene plasmids for ABCG2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ABCG2 Gene

Localization for ABCG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCG2 Gene

Cell membrane; Multi-pass membrane protein. Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCG2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
mitochondrion 4
extracellular 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with ABCG2: view

Pathways & Interactions for ABCG2 Gene

genes like me logo Genes that share pathways with ABCG2: view

Gene Ontology (GO) - Biological Process for ABCG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IEA --
GO:0006879 cellular iron ion homeostasis TAS --
GO:0015886 heme transport IEA --
GO:0033344 cholesterol efflux IBA --
GO:0042493 response to drug TAS 9861027
genes like me logo Genes that share ontologies with ABCG2: view

No data available for SIGNOR curated interactions for ABCG2 Gene

Drugs & Compounds for ABCG2 Gene

(252) Drugs for ABCG2 Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gefitinib Approved, Investigational Pharma Transporter, substrate, inhibitor EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 374
Irinotecan Approved, Investigational Pharma Transporter, substrate Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1181
Methotrexate Approved Pharma Transporter, substrate Folate antagonist,inhibits DFHR 1603
Mitoxantrone Approved, Investigational Pharma inhibitor, Transporter, substrate 275
Sulfasalazine Approved Pharma Inhibition, Inhibitor, Transporter, substrate, inhibitor NF-κB activation inhibitor 63

(40) Additional Compounds for ABCG2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
  • Hydroxyomeprazole
  • 5-Methoxy-2-(((4-methoxy-3-methyl-5-hydroxymethyl-2-pyridinyl)methyl)sulphinyl)-1H-benzimidazole
  • 5-Hydroxy omeprazole
  • 5-Hydroxymethylomeprazole
Hydroxylansoprazole
  • 5-Hydroxy lansoprazole
N-desmethylimatinib
  • CGP74588
O-Desmethylverapamil (D-702)

(3) Tocris Compounds for ABCG2 Gene

Compound Action Cas Number
Fumitremorgin C Inhibitor of BCRP-mediated multidrug resistance 118974-02-0
Ko 143 Potent and selective BCRP inhibitor 461054-93-3
Pyrimethamine Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor 58-14-0

(7) ApexBio Compounds for ABCG2 Gene

Compound Action Cas Number
Dofequidar 129716-58-1
Dofequidar fumarate MDR reversal agent 153653-30-6
Elacridar BCRP inhibitor 143664-11-3
Elacridar hydrochloride BCRP and P-GP inhibitor 143851-98-3
Ko 143 BCRP inhibitor,potent and selective 461054-93-3
Tariquidar methanesulfonate, hydrate P-glycoprotein inhibitor, potent and selective 625375-83-9
Zosuquidar MDR modulator 167354-41-8
genes like me logo Genes that share compounds with ABCG2: view

Drug Products

Transcripts for ABCG2 Gene

mRNA/cDNA for ABCG2 Gene

Unigene Clusters for ABCG2 Gene

ATP-binding cassette, sub-family G (WHITE), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCG2

Clone Products

  • Addgene plasmids for ABCG2

Alternative Splicing Database (ASD) splice patterns (SP) for ABCG2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b · 16c
SP1:
SP2: -
SP3:
SP4: -
SP5: -

Relevant External Links for ABCG2 Gene

GeneLoc Exon Structure for
ABCG2
ECgene alternative splicing isoforms for
ABCG2

Expression for ABCG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABCG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCG2 Gene

This gene is overexpressed in Milk (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCG2 Gene



Protein tissue co-expression partners for ABCG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABCG2 Gene:

ABCG2

SOURCE GeneReport for Unigene cluster for ABCG2 Gene:

Hs.480218

mRNA Expression by UniProt/SwissProt for ABCG2 Gene:

Q9UNQ0-ABCG2_HUMAN
Tissue specificity: Highly expressed in placenta. Low expression in small intestine, liver and colon.

Evidence on tissue expression from TISSUES for ABCG2 Gene

  • Nervous system(4.9)
  • Pancreas(4.2)
  • Intestine(3.2)
  • Blood(3.1)
  • Liver(3)
  • Kidney(2.5)
  • Eye(2.2)
  • Lung(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with ABCG2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCG2 Gene

Orthologs for ABCG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCG2 34 33
  • 99.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABCG2 34 33
  • 88.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABCG2 34 33
  • 86.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abcg2 16 34 33
  • 82.47 (n)
Abcg3 34
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abcg2 33
  • 82.42 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCG2 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCG2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABCG2 34 33
  • 62.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 71 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia abcg2 33
  • 67.31 (n)
Str.8262 33
zebrafish
(Danio rerio)
Actinopterygii abcg2a 34 33
  • 63.3 (n)
OneToMany
abcg2d 34
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2184 33
African malaria mosquito
(Anopheles gambiae)
Insecta WHITE_ANOGA 33
  • 45.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta w 35 33
  • 44.94 (n)
E23 35
  • 38 (a)
st 35
  • 29 (a)
bw 34
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea wht-7 33
  • 43.42 (n)
C05D10.3 35
  • 30 (a)
C10C6.5 35
  • 30 (a)
T26A5.1 35
  • 30 (a)
wht-1 34
  • 29 (a)
ManyToMany
Y47D3A.11 35
  • 29 (a)
C16C10.12 35
  • 29 (a)
F02E11.1 35
  • 27 (a)
F19B6.4 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADP1 36 34 33
  • 46.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04554g 33
  • 45.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER190W 33
  • 44.73 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06530 33
  • 47.25 (n)
rice
(Oryza sativa)
Liliopsida Os03g0157400 33
  • 46.35 (n)
Os.8900 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02544 33
  • 47.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToOne
Species where no ortholog for ABCG2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCG2 Gene

ENSEMBL:
Gene Tree for ABCG2 (if available)
TreeFam:
Gene Tree for ABCG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABCG2: view image

Paralogs for ABCG2 Gene

Paralogs for ABCG2 Gene

(27) SIMAP similar genes for ABCG2 Gene using alignment to 9 proteins:

  • ABCG2_HUMAN
  • F8S0F2_HUMAN
  • F8S0F6_HUMAN
  • F8S0F7_HUMAN
  • H0YAF1_HUMAN
  • H0YAF3_HUMAN
  • I4EPX2_HUMAN
  • I7JB59_HUMAN
  • Q8WZ76_HUMAN

Pseudogenes.org Pseudogenes for ABCG2 Gene

genes like me logo Genes that share paralogs with ABCG2: view

Variants for ABCG2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABCG2 Gene

ABCG2_HUMAN-Q9UNQ0
Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait.
ABCG2_HUMAN-Q9UNQ0
Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia (PubMed:18834626, PubMed:19506252, PubMed:20368174).

Sequence variations from dbSNP and Humsavar for ABCG2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs140207606 association, Blood group, Junior system 88,118,244(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs200190472 affects, Blood group, Junior system 88,118,214(-) G/A coding_sequence_variant, stop_gained
rs2231137 association, Uric acid concentration, serum, quantitative trait locus 1, Blood group, Junior system 88,139,962(-) C/T coding_sequence_variant, missense_variant
rs2231142 association, drug-response, not-provided, Uric acid concentration, serum, quantitative trait locus 1, Blood group, Junior system, rosuvastatin response - Efficacy, allopurinol response - Efficacy, Ovarian Neoplasms 88,131,171(-) G/T coding_sequence_variant, missense_variant
rs387906869 affects, Blood group, Junior system 88,113,385(-) GTG/G coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ABCG2 Gene

Variant ID Type Subtype PubMed ID
dgv2849n106 CNV deletion 24896259
esv1001700 CNV deletion 20482838
esv1361477 CNV deletion 17803354
esv2381400 CNV deletion 18987734
esv2452870 CNV deletion 19546169
esv2663932 CNV deletion 23128226
esv2665331 CNV deletion 23128226
esv2727950 CNV deletion 23290073
esv2759266 CNV gain 17122850
esv33059 CNV loss 17666407
esv3564213 CNV deletion 23714750
esv3601296 CNV gain 21293372
esv3601298 CNV loss 21293372
esv3601299 CNV loss 21293372
esv3601300 CNV loss 21293372
esv4251 CNV loss 18987735
esv7989 CNV loss 19470904
esv992731 CNV insertion 20482838
nsv10531 CNV gain 18304495
nsv1073351 CNV deletion 25765185
nsv1149424 CNV deletion 26484159
nsv292910 CNV deletion 16902084
nsv4413 CNV deletion 18451855
nsv4414 CNV insertion 18451855
nsv4415 CNV insertion 18451855
nsv441897 CNV gain 18776908
nsv473580 CNV novel sequence insertion 20440878
nsv509009 CNV insertion 20534489
nsv818249 CNV gain 17921354
nsv950353 CNV duplication 24416366
nsv956330 CNV deletion 24416366
nsv966295 CNV duplication 23825009

Variation tolerance for ABCG2 Gene

Residual Variation Intolerance Score: 79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABCG2 Gene

Human Gene Mutation Database (HGMD)
ABCG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCG2

SNP Genotyping and Copy Number Assay Products

Disorders for ABCG2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for ABCG2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
blood group, junior system
  • jr
uric acid concentration, serum, quantitative trait locus 1
  • uaqtl1
erythroplakia
  • erythroplasia
placental choriocarcinoma
  • choriocarcinoma of the placenta
hyperuricemia
  • blood urate raized
- elite association - COSMIC cancer census association via MalaCards
Search ABCG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABCG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ABCG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABCG2 Gene

Publications for ABCG2 Gene

  1. Breast cancer resistance protein and P-glycoprotein limit sorafenib brain accumulation. (PMID: 20103600) Lagas JS … Schinkel AH (Molecular cancer therapeutics 2010) 3 22 25 58
  2. Identification and functional characterization of breast cancer resistance protein in human bronchial epithelial cells (Calu-3). (PMID: 19782742) Paturi DK … Mitra AK (International journal of pharmaceutics 2010) 3 22 25 58
  3. ABCG2 polymorphism is associated with the low-density lipoprotein cholesterol response to rosuvastatin. (PMID: 20130569) Tomlinson B … Li EK (Clinical pharmacology and therapeutics 2010) 3 22 44 58
  4. Telmisartan pharmacokinetics in Japanese renal transplant recipients. (PMID: 18838068) Miura M … Suzuki T (Clinica chimica acta; international journal of clinical chemistry 2009) 3 22 44 58
  5. Sensitization of ABCG2-overexpressing cells to conventional chemotherapeutic agent by sunitinib was associated with inhibiting the function of ABCG2. (PMID: 19232821) Dai CL … Fu LW (Cancer letters 2009) 3 22 25 58

Products for ABCG2 Gene

  • Addgene plasmids for ABCG2

Sources for ABCG2 Gene

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