Human Gene ABCG2 (ENST00000237612.8) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), transcript variant 1, mRNA. (from RefSeq NM_004827) RefSeq Summary (NM_004827): 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]. Gencode Transcript: ENST00000237612.8 Gencode Gene: ENSG00000118777.12 Transcript (Including UTRs) Position: hg38 chr4:88,090,269-88,158,639 Size: 68,371 Total Exon Count: 16 Strand: - Coding Region Position: hg38 chr4:88,092,234-88,139,995 Size: 47,762 Coding Exon Count: 15
ID:ABCG2_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family G member 2; AltName: Full=Breast cancer resistance protein; AltName: Full=CDw338; AltName: Full=Mitoxantrone resistance-associated protein; AltName: Full=Placenta-specific ATP-binding cassette transporter; AltName: CD_antigen=CD338; FUNCTION: Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. May be involved in brain-to-blood efflux. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin, display diminished intracellular accumulation of daunorubicin, and manifest an ATP- dependent increase in the efflux of rhodamine 123. SUBUNIT: Monomer or homodimer; disulfide-linked. INTERACTION: P11309-1:PIM1; NbExp=9; IntAct=EBI-1569435, EBI-1018629; SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Highly expressed in placenta. Low expression in small intestine, liver and colon. INDUCTION: Up-regulated in brain tumors. PTM: Glycosylation-deficient ABCG2 is normally expressed and functional. POLYMORPHISM: 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. POLYMORPHISM: 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. SIMILARITY: Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. SIMILARITY: Contains 1 ABC transmembrane type-2 domain. SIMILARITY: Contains 1 ABC transporter domain. SEQUENCE CAUTION: Sequence=AF093771; Type=Frameshift; Positions=486, 586; Sequence=AF093772; Type=Frameshift; Positions=386, 502, 586; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/abcg2/"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UNQ0";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UNQ0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC092408 - Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2, mRNA (cDNA clone MGC:102821 IMAGE:6181905), complete cds. LP895500 - Sequence 364 from Patent EP3253886. U66681 - Homo sapiens clone EST157481 mRNA sequence. AF103796 - Homo sapiens placenta-specific ATP-binding cassette transporter (ABCP) mRNA, complete cds. AK002040 - Homo sapiens cDNA FLJ11178 fis, clone PLACE1007409, weakly similar to WHITE PROTEIN. AF093771 - Homo sapiens mitoxantrone resistance protein 1 mRNA, partial sequence. AK290000 - Homo sapiens cDNA FLJ76761 complete cds, highly similar to Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2(ABCG2), mRNA. JD150263 - Sequence 131287 from Patent EP1572962. JD131629 - Sequence 112653 from Patent EP1572962. AF098951 - Homo sapiens breast cancer resistance protein (BCRP) mRNA, complete cds. JD235162 - Sequence 216186 from Patent EP1572962. AF463519 - Homo sapiens ATP-binding cassette protein ABCG2 (ABCG2) mRNA, complete cds. AY333755 - Homo sapiens subclone C7 mutant ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, complete cds. AY333756 - Homo sapiens ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, complete cds. AY017168 - Homo sapiens ABC transporter ABCG2 (ABCG2) mRNA, complete cds. BC021281 - Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2, mRNA (cDNA clone MGC:29446 IMAGE:4908836), complete cds. AY288307 - Homo sapiens ATP-binding cassette sub-family G member 2 (ABCG2) mRNA, partial cds. AF093772 - Homo sapiens mitoxantrone resistance protein 2 mRNA, complete sequence. AY289766 - Homo sapiens ABC transporter (ABCG2) mRNA, complete cds. AB051855 - Homo sapiens ABCG2 mRNA for ATP-binding cassette superfamily G (White) member 2, complete cds. AB056867 - Homo sapiens BCRP1 mRNA for Breast Cancer Resistance Protein, complete cds. DQ892308 - Synthetic construct clone IMAGE:100004938; FLH185085.01X; RZPDo839F01146D ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2) gene, encodes complete protein. DQ895507 - Synthetic construct Homo sapiens clone IMAGE:100009967; FLH185081.01L; RZPDo839F01145D ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2) gene, encodes complete protein. AB385023 - Synthetic construct DNA, clone: pF1KB5062, Homo sapiens ABCG2 gene for ATP-binding cassette, sub-family G member 2, complete cds, without stop codon, in Flexi system. BC011032 - Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2, mRNA (cDNA clone IMAGE:4273208), with apparent retained intron. DQ459608 - Homo sapiens clone Bewo E1-2 ABCG2 mRNA, partial sequence. DQ459607 - Homo sapiens clone Bewo E1-1 ABCG2 mRNA, partial sequence. DQ459590 - Homo sapiens clone MCF-7/AdrVp E1c 9 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459606 - Homo sapiens clone Bewo E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459614 - Homo sapiens clone JAR E1c 5 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459605 - Homo sapiens clone Bewo E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459589 - Homo sapiens clone MCF-7/AdrVp E1c 8 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459592 - Homo sapiens clone Igrov1/MX3 E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459600 - Homo sapiens clone Igrov1/T8 E1c 4 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459601 - Homo sapiens clone Igrov1/T8 E1c 5 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459602 - Homo sapiens clone Igrov1/T8 E1c 6 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459611 - Homo sapiens clone JAR E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459612 - Homo sapiens clone JAR E1c 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459613 - Homo sapiens clone JAR E1c 4 ABCG2 mRNA, 5' UTR; alternatively spliced. HQ386990 - Homo sapiens clone 1-1 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386991 - Homo sapiens clone 1-2 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386992 - Homo sapiens clone 1-3 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386993 - Homo sapiens clone 1-4 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386994 - Homo sapiens clone 1-5 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386995 - Homo sapiens clone 1-6 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386996 - Homo sapiens clone 1-7 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386997 - Homo sapiens clone 1-8 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. DQ459610 - Homo sapiens clone JAR E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459591 - Homo sapiens clone Igrov1/MX3 E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459588 - Homo sapiens clone MCF-7/AdrVp E1c 7 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459569 - Homo sapiens clone MCF-7 E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459570 - Homo sapiens clone MCF-7 E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459571 - Homo sapiens clone MCF-7 E1c 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459598 - Homo sapiens clone Igrov1/T8 E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459597 - Homo sapiens clone Igrov1/T8 E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459587 - Homo sapiens clone MCF-7/AdrVp E1c 6 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459586 - Homo sapiens clone MCF-7/AdrVp E1c 5 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459585 - Homo sapiens clone MCF-7/AdrVp E1c 4 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459581 - Homo sapiens clone MCF-7/AdrVp E1b 6 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459584 - Homo sapiens clone MCF-7/AdrVp E1c 3 ABCG2 mRNA, 5' UTR; alternatively spliced. HQ386998 - Homo sapiens clone 2-1 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ386999 - Homo sapiens clone 2-2 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387000 - Homo sapiens clone 2-3 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387001 - Homo sapiens clone 2-4 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387002 - Homo sapiens clone 2-5 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387003 - Homo sapiens clone 2-6 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387004 - Homo sapiens clone 2-7 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387005 - Homo sapiens clone 2-8 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. DQ459580 - Homo sapiens clone MCF-7/AdrVp E1b 5 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459596 - Homo sapiens clone Igrov1/T8 E1b 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459564 - Homo sapiens clone MCF-7 E1b 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459565 - Homo sapiens clone MCF-7 E1b 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459566 - Homo sapiens clone MCF-7 E1b 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459567 - Homo sapiens clone MCF-7 E1b 4 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459568 - Homo sapiens clone MCF-7 E1b 5 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459578 - Homo sapiens clone MCF-7/AdrVp E1b 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459579 - Homo sapiens clone MCF-7/AdrVp E1b 4 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459582 - Homo sapiens clone MCF-7/AdrVp E1c 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459595 - Homo sapiens clone Igrov1/T8 E1b 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459604 - Homo sapiens clone Bewo E1b 1 ABCG2 mRNA, 5' UTR; alternatively spliced. HQ387006 - Homo sapiens clone 3 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. HQ387007 - Homo sapiens clone 1 multi drug resistance efflux transport ATP-binding cassette sub-family G (WHITE) member 2 (ABCG2) mRNA, 5' UTR and partial cds. DQ459577 - Homo sapiens clone MCF-7/AdrVp E1b 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459576 - Homo sapiens clone MCF-7/AdrVp E1b 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459575 - Homo sapiens clone MCF-7/AdrVp E1a 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459603 - Homo sapiens clone Bewo E1a 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459574 - Homo sapiens clone MCF-7/AdrVp E1a 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459609 - Homo sapiens clone JAR E1a 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459573 - Homo sapiens clone MCF-7/AdrVp E1a 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459561 - Homo sapiens clone MCF-7 E1a 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459562 - Homo sapiens clone MCF-7 E1a 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459563 - Homo sapiens clone MCF-7 E1a 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459593 - Homo sapiens clone Igrov1/T8 E1a 1 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459594 - Homo sapiens clone Igrov1/T8 E1a 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459583 - Homo sapiens clone MCF-7/AdrVp E1c 2 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459599 - Homo sapiens clone Igrov1/T8 E1c 3 ABCG2 mRNA, 5' UTR; alternatively spliced. DQ459572 - Homo sapiens clone MCF-7 E1c 4 ABCG2 mRNA, 5' UTR; alternatively spliced. AF151530 - Homo sapiens mitoxantrone resistance 1 (MXR-1) gene, partial sequence.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters
Reactome (by CSHL, EBI, and GO)
Protein Q9UNQ0 (Reactome details) participates in the following event(s):
R-HSA-917979 ABCG2 dimer transports heme from cytosol to extracellular region R-HSA-2161506 abacavir [cytosol] + ATP + H2O => abacavir[extracellular] + ADP + phosphate R-HSA-917937 Iron uptake and transport R-HSA-2161517 Abacavir transmembrane transport R-HSA-382551 Transport of small molecules R-HSA-2161522 Abacavir transport and metabolism R-HSA-1430728 Metabolism
US Server
