Common Name: SUR2 HGNC Symbol: ABCC9 HGNC Description: ATP-binding cassette, sub-family C (CFTR/MRP), member 9 HGNC ID: 60 Chromosome: Chr.12(-): 21841590-21980895 Location: 12p12.1 OMIM: 601439 OMIM Phenotype: cardiomyopathy, dilated with ventricular tachycardia Accessions: NM_005691 Nucleotide RefSeq: NM_005691 Protein RefSeq: NP_005682 Entrez: 10060 Isoforms: 3 Evidence: Substrate In Vitro Evidence:
1 Pinacidil, nicorandil, cromakalim, Ashcroft FM et al, Trends in Pharmacological Sciences, 2000: 439-445
Substrate In Vivo Evidence:
1. Sulfonylureas - glibenclamide, miglitinide - Oocytes - Gribble et al, Diabetes, 1998: 1412-1418
Tissue Distribution Evidence:
1. Heart, skeletal muscle, ovary - Northern Blot, Inagaki N et al, Neuron, 1996: 1011-17 Tissues: heart, skeletal muscle, ovary Type: protein coding Sets: V PharmGKB ID: PA396 HPRD ID: 03258 Substrates: pinacidil, nicorandil, cromakalim Trivial Names: SUR2, ABC37, CMD1O, FLJ36852 Transcripts: NM_005691 [Chr.12(-): 21849375-21980895]NM_020298 [Chr.12(-): 21849375-21980895]
[Your browser is not displaying the SVG image of experimental data in gene context.] Study Name: ABCC9 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
Feature PMT SNP ID dbSNP/ PubMed SNP Array Availability Genomic Position Transcript Position Coding Position Nucleotide Change Strand, '+' or '-' Amino Acid Position Amino Acid Change Statistics AA Freq CA Freq AS Freq ME Freq Sample Set 4158
P D E 21981209 -314 -334 AAAATGCTTTCAAAGAACAAAAATG G → A TCATATATTAAGAAAAAGGAGAAAA
+
4157
P D E 21981200 -305 -325 TGTCTGACTAAAATGCTTTCAAAGA A → G CAAAAATGGTCATATATTAAGAAAA
+
Promoter 4156
P D E 21981011 -116 -136 ATAAAATTAATCCCTTTTACTTTGA T → C AGCTGAGGAAATAAGAAACTCTGTG
+
Exon: 5UTR 4155
P D E 21980886 10 -11 AAATGAAAGGCTCATTTCTTCTTAT A → G TGGTTTACTCTAAAAGGGAGAGAAA
+
. Exon(s) indicated by black outlines.
