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2025-05-09 17:22:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001257386 4290 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2
(ABCG2), transcript variant 2, mRNA.
ACCESSION NM_001257386
VERSION NM_001257386.1 GI:383792175
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 4290)
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 BC092408.1 and AC097484.3.
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 (2) differs in the 5' UTR and uses
an alternate splice site in the 3' coding region which results in a
frameshift. The resulting protein (isoform 2) is shorter and has a
distinct and shorter C-terminus compared to 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 :: BC092408.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084, ERS025088 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-768 BC092408.1 1-768
769-769 AC097484.3 38274-38274 c
770-1516 BC092408.1 770-1516
1517-1517 AC097484.3 20431-20431 c
1518-4290 BC092408.1 1518-4290
FEATURES Location/Qualifiers
source 1..4290
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q22"
gene 1..4290
/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..329
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
misc_feature 322..324
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="upstream in-frame stop codon"
variation 329
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/replace="g"
/replace="t"
/db_xref="dbSNP:4148151"
exon 330..551
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
CDS 349..2184
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="isoform 2 is encoded by transcript variant 2;
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 2"
/protein_id="NP_001244315.1"
/db_xref="GI:383792176"
/db_xref="CCDS:CCDS58910.1"
/db_xref="GeneID:9429"
/db_xref="HGNC:74"
/db_xref="MIM:603756"
/translation="
MSSSNVEVFIPVSQGNTNGFPATASNDLKAFTEGAVLSFHNICYRVKLKSGFLPCRKPVEKEILSNINGIMKPGLNAILGPTGGGKSSLLDVLAARKDPSGLSGDVLINGAPRPANFKCNSGYVVQDDVVMGTLTVRENLQFSAALRLATTMTNHEKNERINRVIQELGLDKVADSKVGTQFIRGVSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLLLLKRMSKQGRTIIFSIHQPRYSIFKLFDSLTLLASGRLMFHGPAQEALGYFESAGYHCEAYNNPADFFLDIINGDSTAVALNREEDFKATEIIEPSKQDKPLIEKLAEIYVNSSFYKETKAELHQLSGGEKKKKITVFKEISYTTSFCHQLRWVSKRSFKNLLGNPQASIAQIIVTVVLGLVIGAIYFGLKNDSTGIQNRAGVLFFLTTNQCFSSVSAVELFVVEKKLFIHEYISGYYRVSSYFLGKLLSDLLPMRMLPSIIFTCIVYFMLGLKPKADAFFVMMFTLMMVAYSASSMALAIAAGQSVVSVATLLMTICFVFMMVCWSISQPLHLGCHGFSTSAFHDMDLRLCSIMNFWDKTSAQDSMQQETILVTMQHVLAKNIW
"
misc_feature 448..1152
/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 526..1362
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/note="ABC-type multidrug transport system, ATPase
component [Defense mechanisms]; Region: CcmA; COG1131"
/db_xref="CDD:31326"
misc_feature 586..609
/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(595..600,604..612,724..726,976..981,1075..1077)
/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 715..726
/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 904..933
/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 964..981
/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 988..999
/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 1063..1083
/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 1471..1995
/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 1534..1596
/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 1600..1602
/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 1633..1695
/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 1780..1842
/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 1867..1929
/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 382
/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 462
/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 552..611
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
STS 593..869
/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 612..726
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 665..685
/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 717
/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 727..879
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 769
/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 844
/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 880..1037
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
STS 883..1032
/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 912
/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 964
/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 971
/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 1038..1189
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 1090
/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 1132
/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 1153
/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 1190..1291
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1292..1542
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 1347
/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 1348
/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 1446
/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 1543..1625
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1626..1715
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1716..1840
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
exon 1841..1995
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 1930
/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 1939
/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 1962
/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 1972
/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 1996..2075
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2049
/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 2076..2158
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2106
/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 2159..4276
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
/inference="alignment:Splign:1.39.8"
variation 2196
/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 2214..2363
/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 2320..3025
/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 2372
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
STS 2511..2664
/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 2523
/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 2713
/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 2975..3135
/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 3087
/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 3372
/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 4218
/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 4250..4255
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
variation 4270
/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 4276
/gene="ABCG2"
/gene_synonym="ABC15; ABCP; BCRP; BCRP1; BMDP; CD338;
CDw338; EST157481; GOUT1; MRX; MXR; MXR1; UAQTL1"
ORIGIN
gaaaaaaggaacccaaggagataggagagctgttaatttcactcgggacatttcctcgaggctagtttactcggaaagcctcaatgttccctggtagctgcaggatctactttgggggctgccaagtttcctctctcattctttctcctgccccaagagcaggcaggaaggaaagttcctggactgatactcgtctgtttagtaggcgtgggtcctggttgaagtctgtctaggaaaactcctaagtgtagaaatcttcttcgtattaccactgtctctgcactgagatttgggctgctttgcttccagcgtcacacatcataactgagaaagataaaaactctccagatgtcttccagtaatgtcgaagtttttatcccagtgtcacaaggaaacaccaatggcttccccgcgacagcttccaatgacctgaaggcatttactgaaggagctgtgttaagttttcataacatctgctatcgagtaaaactgaagagtggctttctaccttgtcgaaaaccagttgagaaagaaatattatcgaatatcaatgggatcatgaaacctggtctcaacgccatcctgggacccacaggtggaggcaaatcttcgttattagatgtcttagctgcaaggaaagatccaagtggattatctggagatgttctgataaatggagcaccgcgacctgccaatttcaaatgtaattcaggttacgtggtacaagatgatgttgtgatgggcactctgacggtgagagaaaacttacagttctcagcagctcttcggcttgcaacaactatgacgaatcatgaaaaaaacgaacggattaacagggtcattcaagagttaggtctggataaagtggcagactccaaggttggaactcagtttatccgtggtgtgtctggaggagaaagaaaaaggactagtataggaatggagcttatcactgatccttccatcttgttcttggatgagcctacaactggcttagactcaagcacagcaaatgctgtccttttgctcctgaaaaggatgtctaagcagggacgaacaatcatcttctccattcatcagcctcgatattccatcttcaagttgtttgatagcctcaccttattggcctcaggaagacttatgttccacgggcctgctcaggaggccttgggatactttgaatcagctggttatcactgtgaggcctataataaccctgcagacttcttcttggacatcattaatggagattccactgctgtggcattaaacagagaagaagactttaaagccacagagatcatagagccttccaagcaggataagccactcatagaaaaattagcggagatttatgtcaactcctccttctacaaagagacaaaagctgaattacatcaactttccgggggtgagaagaagaagaagatcacagtcttcaaggagatcagctacaccacctccttctgtcatcaactcagatgggtttccaagcgttcattcaaaaacttgctgggtaatccccaggcctctatagctcagatcattgtcacagtcgtactgggactggttataggtgccatttactttgggctaaaaaatgattctactggaatccagaacagagctggggttctcttcttcctgacgaccaaccagtgtttcagcagtgtttcagccgtggaactctttgtggtagagaagaagctcttcatacatgaatacatcagcggatactacagagtgtcatcttatttccttggaaaactgttatctgatttattacccatgaggatgttaccaagtattatatttacctgtatagtgtacttcatgttaggattgaagccaaaggcagatgccttcttcgttatgatgtttacccttatgatggtggcttattcagccagttccatggcactggccatagcagcaggtcagagtgtggtttctgtagcaacacttctcatgaccatctgttttgtgtttatgatggtctgttggtcaatctcacaaccattgcatcttggctgtcatggcttcagtacttcagcattccacgatatggatttacggctttgcagcataatgaatttttgggacaaaacttctgcccaggactcaatgcaacaggaaacaatccttgtaactatgcaacatgtactggcgaagaatatttggtaaagcagggcatcgatctctcaccctggggcttgtggaagaatcacgtggccttggcttgtatgattgttattttcctcacaattgcctacctgaaattgttatttcttaaaaaatattcttaaatttccccttaattcagtatgatttatcctcacataaaaaagaagcactttgattgaagtattcaatcaagtttttttgttgttttctgttcccttgccatcacactgttgcacagcagcaattgttttaaagagatacatttttagaaatcacaacaaactgaattaaacatgaaagaacccaagacatcatgtatcgcatattagttaatctcctcagacagtaaccatggggaagaaatctggtctaatttattaatctaaaaaaggagaattgaattctggaaactcctgacaagttattactgtctctggcatttgtttcctcatctttaaaatgaataggtaggttagtagcccttcagtcttaatactttatgatgctatggtttgccattatttaataaatgacaaatgtattaatgctatactggaaatgtaaaattgaaaatatgttggaaaaaagattctgtcttatagggtaaaaaaagccaccgtgatagaaaaaaaatctttttgataagcacattaaagttaatagaacttactgatattcctgtctagtggtataatatctcaggaatcttggctgagggtttggaactgtgggtagagtagagggccaggagtccagtaatagaattcttgcaccatttctggaacattctagctctgggaggtcacgtaaccttcttggggtagttcagtggtttagtggtttataatccaggtgtgcgtcagaatcatctgaggaactttgctaaaatacaaaaatctggcctaagtagctccagatctaccttcataaaggaatctgaccactcctggatttggtaatttccaagttctgaaaattttacttaggatttaataactattaacatctgtccctacataggttttctttcctacttatataccttatgttctcttcattctaaccttcatcagtaatagggaaatgttttaattttatttttttagttgaagggtaatgtaccaaaaaatatagttcagtgaattaaaatgaacacacatgtgcaaccatcaattcaggtcaagaaatagaagattgtagcacacaaaagcctactcagccattctcccagtcactacttccttccttacccctgggttatttttgaaatgacacttgatgtatttccctctgttgctgttatgagaacattgctacagccaagtgttgtgtttctgtgtgcataggttgatacttaattatctccccactttttaataaacttttaatttggaaataattttagattgacagaaaagttgcaaagatagtgaggaaagttcctgtctactctttgctcagcttcccttaatgttaacattttatatagcaagatgcatttgtcaaagctaacaagttaacattggtacaatcactgttaattaaactgcacacaatattcagatttcaccacttttccactaatattctttcattgttctaggattcaattcaggagaccacatttcatctagccctcttttttaaaagtaaatacttttcagcacttacaggagttaactgagctggggcatcatggtgtatagacgccctgacactggtcatcttggaattcatttagtttgtcagtgggtgccctgacattctgtcacaacatcaatttgggaacatggcattatatttttatctttgaacttttttctttttggatgacatttgattaatgcgtcatcttggaacacattatcttttttcttggttatgtgatcaggaagattaatcagtttttcctgttcttggtataattcctgcttttcacatacctgtcccttacagttctctatatatacccttcccttattacacagagagaaatatctatctatactttttacacaaaatatacttcaaaagaaacaaaacagccacaattattaactttttaaataaatgagaatttaattatatcctaaaaaaaaaaaaaaa
//
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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