UCSF Pharmacogenetics of Membrane Transporters
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Common Name:ABCC11
HGNC Symbol:ABCC11
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 11
HGNC ID:14639
Chromosome:Chr.16(-): 46758323-46826589
Location:16q12.1
OMIM:607040
OMIM Phenotype:None
Accessions:NM_032583
Nucleotide RefSeq:NM_032583
Protein RefSeq:NP_115972
Entrez:85320
Isoforms:3
Evidence:Substrate In Vitro Evidence: 1. cAMP, cGMP, PMEA and 5-fluorodeoxyuridine monophosphate, LLC-PK vesicles, Guo Y et al, JBC, 2003: 29509-29514 Tissue Distribution Evidence: 1. Breast Cancer, RT/PCR, Bera TK et al, Molecular Medicine, 2001: 509-516
Tissues:breast cancer
Type:protein coding
Sets:V
PharmGKB ID:PA24393
HPRD ID:06127
Substrates:c-AMP, c-GMP, PMEA, 5-fluordeoxyuridine monophosphate
Trivial Names:WW, EWWD, MRP8
Transcripts:NM_032583 [Chr.16(-): 46758323-46826589]
NM_033151 [Chr.16(-): 46758323-46823683]
NM_145186 [Chr.16(-): 46758323-46826589]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC11 Resequencing
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Study Name:ABCC11 Resequencing
Experiments:
SNP impact: P - Public  D - Discovered  E - Exclusive  (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip  A - found on Affymetrix Genome-Wide SNP Array 6.0  
FeaturePMT SNP IDdbSNP/ PubMedSNP Array AvailabilityGenomic PositionTranscript PositionCoding PositionNucleotide ChangeStrand, '+' or '-'Amino Acid PositionAmino Acid ChangeStatisticsAA FreqCA FreqAS FreqME FreqSample Set
 
4244
PDE
rs72559428
 46826965-376-3632
AACGAGCTCGAGCTCAGCCACACAT T → G AGCTTGGGCCTCCTTCCAGTTCCAT
+ 
 
n=
T/T=
T/G=
G/G=
G=
92
46
0
0
0.000
114
56
1
0
0.009
126
63
0
0
0.000
106
53
0
0
0.000
PMT-272
Promoter
5131
PDE
rs72559427
 46826834-245-3501
AGTGTGACTCTTTCCTATTCAAGAT T → C CATCCAGGAAACTAACGACATGGAA
+ 
 
n=
T/T=
T/C=
C/C=
C=
92
45
1
0
0.011
114
57
0
0
0.000
126
63
0
0
0.000
106
53
0
0
0.000
PMT-272
Promoter
4242
rs66848432
 46826642-53-3309
CAACTAGAGATGCAAAGAGATGCAA AGAGATGCAA → - TGAGGGTTACTCATCA
+ 
 
n=
AGAGATGCAA/AGAGATGCAA=
AGAGATGCAA/-=
-/-=
-=
132
40
20
6
0.242
130
56
8
1
0.077
136
63
5
0
0.037
132
51
13
2
0.129
PMT-272
Promoter
4241
PDE
rs72559426
 46826602-13-3269
TATTCAAATACACCTGCAAAGAGAG G → C TAACGAAGGTTTCACAACTAGAGAT
+ 
 
n=
G/G=
G/C=
C/C=
C=
132
64
2
0
0.015
130
65
0
0
0.000
136
68
0
0
0.000
132
66
0
0
0.000
PMT-272

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
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