UCSF Pharmacogenetics of Membrane Transporters
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Common Name:SUR1
HGNC Symbol:ABCC8
HGNC Description:ATP-binding cassette, sub-family C (CFTR/MRP), member 8
HGNC ID:59
Chromosome:Chr.11(-): 17371008-17455025
Location:11p15.1
OMIM:600509
OMIM Phenotype:Persistent Hyperinsulinemic Hypoglycemia of Infancy; Persistent Hyperinsnulinemic Hypoglycemia of Infancy due to Focal Adenomatous Hyperplasia
Accessions:NM_000352
Nucleotide RefSeq:NM_000352
Protein RefSeq:NP_000343
Entrez:6833
Isoforms:1
Evidence:Substrate In Vitro Evidence: 1. Diazoxide - Ashcroft FM et al, Trends in Pharmacological Sciences, 2000: 439-445 Substrate In Vivo Evidence: 1. Gene variant associated with high insulin concentrations in non-diabetic Mexican Americans - Goksel DL et al, Human Genetics, 1998: 280-85 2. sulfonylureas - tolbutamide, glibenclamide, meglitinide (binds SUR1, but inhibits K(ATP) Channel)- Oocytes - Gribble et al, Diabetes, 1998: 1412-1418 Tissue Distribution Evidence: 1. Pancreatic b-cell - Seino S. Journal of Diabetes and Its Complications, 2003: 2-5
Tissues:pancreatic beta-cell
Type:protein coding
Sets:V
PharmGKB ID:PA24395
HPRD ID:02741
Substrates:Diazoxide
Trivial Names:HI, SUR, HHF1, MRP8, PHHI, SUR1, ABC36, HRINS, TNDM2
Transcripts:NM_000352 [Chr.11(-): 17371008-17455025]
View on UCSC Genome Browser or Ensembl Genome Browser
ABCC8 Resequencing
[Your browser is not displaying the SVG image of experimental data in gene context.]
Study Name:ABCC8 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
 
4342
PDE
rs36234280
 17455337-312-438
AGGCCTGGAGTGGGCGGGTTCAGGG T → A CCCGAGTGTGAGTTCACCTGGGCGT
+ 
 
n=
T/T=
T/A=
A/A=
A=
130
60
5
0
0.038
126
55
8
0
0.063
130
54
11
0
0.085
122
60
1
0
0.008
PMT-272
Exon: 5UTR
Promoter
4341
PDE
rs72559430
 1745498739-88
CGCCTCTGTCCCTTGCAGCTCCGCC G → T CCCGGCCCGGCCGTCAGGCCCCCGC
+ 
 
n=
G/G=
G/T=
T/T=
T=
132
65
1
0
0.008
128
64
0
0
0.000
130
65
0
0
0.000
124
62
0
0
0.000
PMT-272
Exon: 5UTR
4340
 1745497155-72
CTCCGCGCGCCTGCCGCGCCTCTGT C → T CCTTGCAGCTCCGCCGCCCGGCCCG
+ 
 
n=
C/C=
C/T=
T/T=
T=
132
66
0
0
0.000
132
66
0
0
0.000
132
66
0
0
0.000
124
60
2
0
0.016
PMT-272
Exon: 5UTR
4339
PDE
rs72559429
 1745495769-58
GCTGGCTCCGCTGGCTCCGCGCGCC T → A GCCGCGCCTCTGTCCCTTGCAGCTC
+ 
 
n=
T/T=
T/A=
A/A=
A=
132
66
0
0
0.000
132
66
0
0
0.000
132
66
0
0
0.000
122
60
1
0
0.008
PMT-272
Exon: 5UTR
4338
 1745495175-52
GGCTCAGCTGGCTCCGCTGGCTCCG C → CTGGCTCCGC GCGCCTGCCGCGCCTCTGTCCCTTG
+ 
 
n=
C/C=
C/CTGGCTCCGC=
CTGGCTCCGC/CTGGCTCCGC=
CTGGCTCCGC=
132
65
1
0
0.008
132
66
0
0
0.000
132
66
0
0
0.000
122
61
0
0
0.000
PMT-272
Exon: 5UTR
4337
 1745494878-49
TCGGGCTCAGCTGGCTCCGCTGGCT C → G CGCGCGCCTGCCGCGCCTCTGTCCC
+ 
 
n=
C/C=
C/G=
G/G=
G=
132
58
8
0
0.061
132
66
0
0
0.000
132
66
0
0
0.000
122
60
1
0
0.008
PMT-272
Exon: 5UTR
5874
 17454907119-8
GCAGAAGGCCAGGGGCATGGCGGCG C → A GGGCGCGGGCTGGGCTCGGGCTCAG
+ 
 
n=
C/C=
C/A=
A/A=
A=
130
65
0
0
0.000
126
62
1
0
0.008
130
65
0
0
0.000
122
61
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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