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2025-05-09 19:06:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004827 4445 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2
(ABCG2), transcript variant 1, mRNA.
ACCESSION NM_004827
VERSION NM_004827.2 GI:62526032
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4445)
AUTHORS Samanta,S., Pursell,B. and Mercurio,A.M.
TITLE IMP3 protein promotes chemoresistance in breast cancer cells by
regulating breast cancer resistance protein (ABCG2) expression
JOURNAL J. Biol. Chem. 288 (18), 12569-12573 (2013)
PUBMED 23539627
REMARK GeneRIF: IMP3 binds to BCRP mRNA and regulates BCRP expression.
REFERENCE 2 (bases 1 to 4445)
AUTHORS Woodward,O.M., Tukaye,D.N., Cui,J., Greenwell,P.,
Constantoulakis,L.M., Parker,B.S., Rao,A., Kottgen,M., Maloney,P.C.
and Guggino,W.B.
TITLE Gout-causing Q141K mutation in ABCG2 leads to instability of the
nucleotide-binding domain and can be corrected with small molecules
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (13), 5223-5228 (2013)
PUBMED 23493553
REMARK GeneRIF: study found the Q141K mutation leads to instability in the
nucleotide-binding domain,a defect that translates to decreased
protein expression; the Q141K mutation does not interfere with the
nucleotide-binding domain/intracellular loop
interactions;identified critical residues involved in
protein-protein interactions necessary for dimerization of ABCG2
REFERENCE 3 (bases 1 to 4445)
AUTHORS Hinohara,Y., Naito,M., Okada,R., Yin,G., Higashibata,T., Tamura,T.,
Kawai,S., Morita,E., Wakai,K., Matsuo,H., Mori,A. and Hamajima,N.
TITLE No association between MTHFR C677T and serum uric acid levels among
Japanese with ABCG2 126QQ and SLC22A12 258WW
JOURNAL Nagoya J Med Sci 75 (1-2), 93-100 (2013)
PUBMED 23544272
REMARK GeneRIF: Report no association between serum uric acid and MTHFR
C677T genotype, after the influences of ABCG2 Q126X and SLC22A12
W258X were removed.
REFERENCE 4 (bases 1 to 4445)
AUTHORS Zhou,Q., Ruan,Z.R., Yuan,H., Xu,D.H. and Zeng,S.
TITLE ABCB1 gene polymorphisms, ABCB1 haplotypes and ABCG2 c.421c > A are
determinants of inter-subject variability in rosuvastatin
pharmacokinetics
JOURNAL Pharmazie 68 (2), 129-134 (2013)
PUBMED 23469685
REMARK GeneRIF: ABCG2 c.421C > A is a determinant of inter-subject
variability in rosuvastatin pharmacokinetics in healthy Chinese
volunteers
REFERENCE 5 (bases 1 to 4445)
AUTHORS Li,H., Zhou,S., Li,T., Liu,Z., Wu,J., Zeng,G., Liu,C. and Gong,J.
TITLE Suppression of BCRP expression and restoration of sensitivity to
chemotherapy in multidrug-resistant HCC cell line HEPG2/ADM by RNA
interference
JOURNAL Hepatogastroenterology 59 (119), 2238-2242 (2012)
PUBMED 23435138
REMARK GeneRIF: RNA interference knockdown of BCRP expression restored
sensitivity to adriamycin chemotherapy in multidrug-resistant
hepatocellular carcinoma cell line.
REFERENCE 6 (bases 1 to 4445)
AUTHORS Ross,D.D., Yang,W., Abruzzo,L.V., Dalton,W.S., Schneider,E.,
Lage,H., Dietel,M., Greenberger,L., Cole,S.P. and Doyle,L.A.
TITLE Atypical multidrug resistance: breast cancer resistance protein
messenger RNA expression in mitoxantrone-selected cell lines
JOURNAL J. Natl. Cancer Inst. 91 (5), 429-433 (1999)
PUBMED 10070941
REFERENCE 7 (bases 1 to 4445)
AUTHORS Miyake,K., Mickley,L., Litman,T., Zhan,Z., Robey,R., Cristensen,B.,
Brangi,M., Greenberger,L., Dean,M., Fojo,T. and Bates,S.E.
TITLE Molecular cloning of cDNAs which are highly overexpressed in
mitoxantrone-resistant cells: demonstration of homology to ABC
transport genes
JOURNAL Cancer Res. 59 (1), 8-13 (1999)
PUBMED 9892175
REFERENCE 8 (bases 1 to 4445)
AUTHORS Doyle,L.A., Yang,W., Abruzzo,L.V., Krogmann,T., Gao,Y., Rishi,A.K.
and Ross,D.D.
TITLE A multidrug resistance transporter from human MCF-7 breast cancer
cells
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (26), 15665-15670 (1998)
PUBMED 9861027
REMARK Erratum:[Proc Natl Acad Sci U S A 1999 Mar 2;96(5):2569]
REFERENCE 9 (bases 1 to 4445)
AUTHORS Allikmets,R., Schriml,L.M., Hutchinson,A., Romano-Spica,V. and
Dean,M.
TITLE A human placenta-specific ATP-binding cassette gene (ABCP) on
chromosome 4q22 that is involved in multidrug resistance
JOURNAL Cancer Res. 58 (23), 5337-5339 (1998)
PUBMED 9850061
REFERENCE 10 (bases 1 to 4445)
AUTHORS Allikmets,R., Gerrard,B., Hutchinson,A. and Dean,M.
TITLE Characterization of the human ABC superfamily: isolation and
mapping of 21 new genes using the expressed sequence tags database
JOURNAL Hum. Mol. Genet. 5 (10), 1649-1655 (1996)
PUBMED 8894702
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI598784.1, BC021281.2 and
BC092408.1.
This sequence is a reference standard in the RefSeqGene project.
On Apr 12, 2005 this sequence version replaced gi:4757849.
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 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].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer protein (isoform 1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC021281.2, AF103796.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-559 BI598784.1 59-617
560-2525 BC021281.2 560-2525
2526-4445 BC092408.1 2371-4290
FEATURES Location/Qualifiers
source 1..4445
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q22"
gene 1..4445
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ATP-binding cassette, sub-family G (WHITE), member
2"
/db_xref="GeneID:9429"
/db_xref="HGNC:74"
/db_xref="MIM:603756"
exon 1..474
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 18
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2231135"
variation 72
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61225678"
variation 232
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2231136"
variation 259
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace=""
/replace="a"
/db_xref="dbSNP:3219192"
variation 365
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111692024"
variation 380
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111766106"
variation 465
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:45630471"
misc_feature 467..469
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="upstream in-frame stop codon"
exon 475..696
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
CDS 494..2461
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="isoform 1 is encoded by transcript variant 1;
breast cancer resistance protein; placenta specific MDR
protein; ABC transporter; ATP-binding cassette transporter
G2; mitoxantrone resistance-associated protein;
placenta-specific ATP-binding cassette transporter; multi
drug resistance efflux transport ATP-binding cassette
sub-family G (WHITE) member 2"
/codon_start=1
/product="ATP-binding cassette sub-family G member 2
isoform 1"
/protein_id="NP_004818.2"
/db_xref="GI:62526033"
/db_xref="CCDS:CCDS3628.1"
/db_xref="GeneID:9429"
/db_xref="HGNC:74"
/db_xref="MIM:603756"
/translation="
MSSSNVEVFIPVSQGNTNGFPATASNDLKAFTEGAVLSFHNICYRVKLKSGFLPCRKPVEKEILSNINGIMKPGLNAILGPTGGGKSSLLDVLAARKDPSGLSGDVLINGAPRPANFKCNSGYVVQDDVVMGTLTVRENLQFSAALRLATTMTNHEKNERINRVIQELGLDKVADSKVGTQFIRGVSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLLLLKRMSKQGRTIIFSIHQPRYSIFKLFDSLTLLASGRLMFHGPAQEALGYFESAGYHCEAYNNPADFFLDIINGDSTAVALNREEDFKATEIIEPSKQDKPLIEKLAEIYVNSSFYKETKAELHQLSGGEKKKKITVFKEISYTTSFCHQLRWVSKRSFKNLLGNPQASIAQIIVTVVLGLVIGAIYFGLKNDSTGIQNRAGVLFFLTTNQCFSSVSAVELFVVEKKLFIHEYISGYYRVSSYFLGKLLSDLLPMRMLPSIIFTCIVYFMLGLKPKADAFFVMMFTLMMVAYSASSMALAIAAGQSVVSVATLLMTICFVFMMIFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGNNPCNYATCTGEEYLVKQGIDLSPWGLWKNHVALACMIVIFLTIAYLKLLFLKKYS
"
misc_feature 593..1297
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ABCG transporters are involved in eye pigment (EP)
precursor transport, regulation of lipid-trafficking
mechanisms, and pleiotropic drug resistance (DR). DR is a
well-described phenomenon occurring in fungi and shares
several similarities with processes...; Region: ABCG_EPDR;
cd03213"
/db_xref="CDD:72972"
misc_feature 656..2440
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="The Eye Pigment Precursor Transporter (EPP) Family
protein; Region: 3a01204; TIGR00955"
/db_xref="CDD:162130"
misc_feature 731..754
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="Walker A/P-loop; other site"
/db_xref="CDD:72972"
misc_feature order(740..745,749..757,869..871,1121..1126,1220..1222)
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ATP binding site [chemical binding]; other site"
/db_xref="CDD:72972"
misc_feature 860..871
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="Q-loop/lid; other site"
/db_xref="CDD:72972"
misc_feature 1049..1078
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ABC transporter signature motif; other site"
/db_xref="CDD:72972"
misc_feature 1109..1126
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="Walker B; other site"
/db_xref="CDD:72972"
misc_feature 1133..1144
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="D-loop; other site"
/db_xref="CDD:72972"
misc_feature 1208..1228
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="H-loop/switch region; other site"
/db_xref="CDD:72972"
misc_feature 1616..2251
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ABC-2 type transporter; Region: ABC2_membrane;
pfam01061"
/db_xref="CDD:201578"
misc_feature 1679..1741
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
misc_feature 1745..1747
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/experiment="experimental evidence, no additional details
recorded"
/note="Not glycosylated; propagated from
UniProtKB/Swiss-Prot (Q9UNQ0.3); other site"
misc_feature 1778..1840
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
misc_feature 1925..1987
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
misc_feature 2012..2074
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
misc_feature 2099..2161
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
misc_feature 2162..2164
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/experiment="experimental evidence, no additional details
recorded"
/note="Not glycosylated; propagated from
UniProtKB/Swiss-Prot (Q9UNQ0.3); other site"
misc_feature 2279..2281
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/experiment="experimental evidence, no additional details
recorded"
/note="glycosylation site"
misc_feature 2384..2446
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9UNQ0.3);
transmembrane region"
variation 527
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2231137"
variation 607
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12721640"
exon 697..756
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
STS 738..1014
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="ABCG2"
/db_xref="UniSTS:503454"
exon 757..871
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 810..830
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199578838"
variation 862
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2231139"
exon 872..1024
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 914
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2231142"
variation 989
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1061017"
exon 1025..1182
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
STS 1028..1177
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="ABCG2"
/db_xref="UniSTS:519123"
variation 1057
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:3116439"
variation 1109
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="c"
/db_xref="dbSNP:12721643"
variation 1116
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061018"
exon 1183..1334
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 1235
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:3116448"
variation 1277
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200473953"
variation 1298
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:34678167"
exon 1335..1436
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1437..1687
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 1492
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34881799"
variation 1493
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="g"
/replace="t"
/db_xref="dbSNP:3201997"
variation 1591
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:35622453"
exon 1688..1770
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1771..1860
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1861..1985
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1986..2140
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2075
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:45605536"
variation 2084
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201584210"
variation 2107
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34156107"
variation 2117
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:35965584"
exon 2141..2230
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2204
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="t"
/db_xref="dbSNP:9282571"
exon 2231..2313
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2261
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="t"
/db_xref="dbSNP:34264773"
exon 2314..4431
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2351
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:34783571"
STS 2369..2518
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="SHGC-24753"
/db_xref="UniSTS:64270"
STS 2475..3180
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="ABCG2_1993"
/db_xref="UniSTS:280425"
polyA_site 2527
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/experiment="experimental evidence, no additional details
recorded"
polyA_signal 2626..2631
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
polyA_site 2646
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/experiment="experimental evidence, no additional details
recorded"
STS 2666..2819
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="RH18379"
/db_xref="UniSTS:62742"
variation 2678
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:45566442"
variation 2868
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1138276"
STS 3130..3290
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/standard_name="SHGC-67418"
/db_xref="UniSTS:66120"
variation 3242
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1448782"
variation 3527
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1448784"
variation 4373
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201773725"
polyA_signal 4405..4410
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
variation 4425
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="c"
/replace="t"
/db_xref="dbSNP:45510401"
polyA_site 4431
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
ORIGIN
gtcagcgctgcctgagctcgtcccctggatgtccgggtctccccaggcggccacccgccggctcccatcgtgacctccagccgcagcgcctcccacgccggccgccgcgcgaggggagcgctcgggcgcgccgggtgtggttgggggaaggggttgtgccgcgcgcgggctgcgtgctgtgcccactcaaaaggttccgggcgcgcaggagggaagaggcagtgcccgccactcccactgagattgagagacgcggcaaggaggcagcctgtggaggaactgggtaggatttaggaacgcaccgtgcacatgcttggtggtcttgttaagtggaaactgctgctttagagtttgtttggaaggtccgggtgactcatcccaacatttacatccttaattgttaaagcgctgcctccgagcgcacgcatcctgagatcctgagcctttggttaagaccgagctctattaagctgaaaagataaaaactctccagatgtcttccagtaatgtcgaagtttttatcccagtgtcacaaggaaacaccaatggcttccccgcgacagcttccaatgacctgaaggcatttactgaaggagctgtgttaagttttcataacatctgctatcgagtaaaactgaagagtggctttctaccttgtcgaaaaccagttgagaaagaaatattatcgaatatcaatgggatcatgaaacctggtctcaacgccatcctgggacccacaggtggaggcaaatcttcgttattagatgtcttagctgcaaggaaagatccaagtggattatctggagatgttctgataaatggagcaccgcgacctgccaatttcaaatgtaattcaggttacgtggtacaagatgatgttgtgatgggcactctgacggtgagagaaaacttacagttctcagcagctcttcggcttgcaacaactatgacgaatcatgaaaaaaacgaacggattaacagggtcattcaagagttaggtctggataaagtggcagactccaaggttggaactcagtttatccgtggtgtgtctggaggagaaagaaaaaggactagtataggaatggagcttatcactgatccttccatcttgttcttggatgagcctacaactggcttagactcaagcacagcaaatgctgtccttttgctcctgaaaaggatgtctaagcagggacgaacaatcatcttctccattcatcagcctcgatattccatcttcaagttgtttgatagcctcaccttattggcctcaggaagacttatgttccacgggcctgctcaggaggccttgggatactttgaatcagctggttatcactgtgaggcctataataaccctgcagacttcttcttggacatcattaatggagattccactgctgtggcattaaacagagaagaagactttaaagccacagagatcatagagccttccaagcaggataagccactcatagaaaaattagcggagatttatgtcaactcctccttctacaaagagacaaaagctgaattacatcaactttccgggggtgagaagaagaagaagatcacagtcttcaaggagatcagctacaccacctccttctgtcatcaactcagatgggtttccaagcgttcattcaaaaacttgctgggtaatccccaggcctctatagctcagatcattgtcacagtcgtactgggactggttataggtgccatttactttgggctaaaaaatgattctactggaatccagaacagagctggggttctcttcttcctgacgaccaaccagtgtttcagcagtgtttcagccgtggaactctttgtggtagagaagaagctcttcatacatgaatacatcagcggatactacagagtgtcatcttatttccttggaaaactgttatctgatttattacccatgaggatgttaccaagtattatatttacctgtatagtgtacttcatgttaggattgaagccaaaggcagatgccttcttcgttatgatgtttacccttatgatggtggcttattcagccagttccatggcactggccatagcagcaggtcagagtgtggtttctgtagcaacacttctcatgaccatctgttttgtgtttatgatgattttttcaggtctgttggtcaatctcacaaccattgcatcttggctgtcatggcttcagtacttcagcattccacgatatggatttacggctttgcagcataatgaatttttgggacaaaacttctgcccaggactcaatgcaacaggaaacaatccttgtaactatgcaacatgtactggcgaagaatatttggtaaagcagggcatcgatctctcaccctggggcttgtggaagaatcacgtggccttggcttgtatgattgttattttcctcacaattgcctacctgaaattgttatttcttaaaaaatattcttaaatttccccttaattcagtatgatttatcctcacataaaaaagaagcactttgattgaagtattcaatcaagtttttttgttgttttctgttcccttgccatcacactgttgcacagcagcaattgttttaaagagatacatttttagaaatcacaacaaactgaattaaacatgaaagaacccaagacatcatgtatcgcatattagttaatctcctcagacagtaaccatggggaagaaatctggtctaatttattaatctaaaaaaggagaattgaattctggaaactcctgacaagttattactgtctctggcatttgtttcctcatctttaaaatgaataggtaggttagtagcccttcagtcttaatactttatgatgctatggtttgccattatttaataaatgacaaatgtattaatgctatactggaaatgtaaaattgaaaatatgttggaaaaaagattctgtcttatagggtaaaaaaagccaccgtgatagaaaaaaaatctttttgataagcacattaaagttaatagaacttactgatattcctgtctagtggtataatatctcaggaatcttggctgagggtttggaactgtgggtagagtagagggccaggagtccagtaatagaattcttgcaccatttctggaacattctagctctgggaggtcacgtaaccttcttggggtagttcagtggtttagtggtttataatccaggtgtgcgtcagaatcatctgaggaactttgctaaaatacaaaaatctggcctaagtagctccagatctaccttcataaaggaatctgaccactcctggatttggtaatttccaagttctgaaaattttacttaggatttaataactattaacatctgtccctacataggttttctttcctacttatataccttatgttctcttcattctaaccttcatcagtaatagggaaatgttttaattttatttttttagttgaagggtaatgtaccaaaaaatatagttcagtgaattaaaatgaacacacatgtgcaaccatcaattcaggtcaagaaatagaagattgtagcacacaaaagcctactcagccattctcccagtcactacttccttccttacccctgggttatttttgaaatgacacttgatgtatttccctctgttgctgttatgagaacattgctacagccaagtgttgtgtttctgtgtgcataggttgatacttaattatctccccactttttaataaacttttaatttggaaataattttagattgacagaaaagttgcaaagatagtgaggaaagttcctgtctactctttgctcagcttcccttaatgttaacattttatatagcaagatgcatttgtcaaagctaacaagttaacattggtacaatcactgttaattaaactgcacacaatattcagatttcaccacttttccactaatattctttcattgttctaggattcaattcaggagaccacatttcatctagccctcttttttaaaagtaaatacttttcagcacttacaggagttaactgagctggggcatcatggtgtatagacgccctgacactggtcatcttggaattcatttagtttgtcagtgggtgccctgacattctgtcacaacatcaatttgggaacatggcattatatttttatctttgaacttttttctttttggatgacatttgattaatgcgtcatcttggaacacattatcttttttcttggttatgtgatcaggaagattaatcagtttttcctgttcttggtataattcctgcttttcacatacctgtcccttacagttctctatatatacccttcccttattacacagagagaaatatctatctatactttttacacaaaatatacttcaaaagaaacaaaacagccacaattattaactttttaaataaatgagaatttaattatatcctaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9429 -> Molecular function: GO:0005215 [transporter activity] evidence: TAS
GeneID:9429 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9429 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:9429 -> Molecular function: GO:0008559 [xenobiotic-transporting ATPase activity] evidence: TAS
GeneID:9429 -> Molecular function: GO:0015232 [heme transporter activity] evidence: TAS
GeneID:9429 -> Molecular function: GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] evidence: TAS
GeneID:9429 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA
GeneID:9429 -> Biological process: GO:0006810 [transport] evidence: TAS
GeneID:9429 -> Biological process: GO:0006855 [drug transmembrane transport] evidence: TAS
GeneID:9429 -> Biological process: GO:0006879 [cellular iron ion homeostasis] evidence: TAS
GeneID:9429 -> Biological process: GO:0015886 [heme transport] evidence: TAS
GeneID:9429 -> Biological process: GO:0042493 [response to drug] evidence: TAS
GeneID:9429 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:9429 -> Biological process: GO:0046415 [urate metabolic process] evidence: IMP
GeneID:9429 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
GeneID:9429 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:9429 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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