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Aliases & Descriptions for ABCC9
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ABC37 2 CMD1O 1 , 2 , 5 FLJ36852 2 SUR2 1 , 2 , 3 , 5
Descriptions ATP-binding cassette, sub-family C (CFTR/MRP), member 9 2 ATP-binding cassette, sub-family C, member 9 2 Sulfonylurea receptor 2 3 sulfonylurea receptor 2A 2
Search outside databases for aliases for ABCC9 genePrevious GC identifers: GC12M022239 GC12M021955 GC12M021852 GC12M021845
Summaries for ABCC9 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ABCC9 : The protein encoded by this gene is a member of 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 MRP subfamily which is involved in multi-drug resistance.This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, andvascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-bindingchannel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. No disease hasbeen associated with this gene thus far. Alternative splicing of this gene results in severalproducts, two of which result from differential usage of two terminal exons and one of whichresults from exon deletion. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 Function : Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smoothmuscle-type KATP channels with KIR6.2. KIR6.2 forms the channel pore while SUR2 is required foractivation and regulation
Genomic Location for ABCC9
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ABCC9 gene Entrez Gene cytogenetic band: 12p12.1 Ensembl cytogenetic band: 12p12.1 HGNC cytogenetic band: 12p12.1 ABCC9 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M021844:
(about GC identifiers )
Start:
21,841,590 bp from pter
End:
21,985,603 bp from pter
Size:
144,014 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000012.10 NT_009714.16 Proteins for ABCC9
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 (See
protein sequence )Recommended Name: ATP-binding cassette transporter sub-family C member 9 Size : 1549 amino acids; 174223 Da
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Secondary accessions : O60707Alternative splicing : 2 isoforms : O60706-1 O60706-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_005682.2 NP_064693.2 NP_064694.2 ENSEMBL proteins: ENSP00000261201 ENSP00000317518 ENSP00000261200 ENSP00000261202 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0008282 ATP-sensitive potassium channel complex
ISS -- GO:0016020 membrane
IEA -- GO:0016021 integral to membrane
IEA --
About this table Antibodies for ABCC9: Assays for ABCC9:
Protein
Domains/ Families for ABCC9(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O60706 ProtoNet protein and cluster: O60706
2 Blocks protein families : IPB000388 Sulphonylurea receptor family signature IPB001475 Sulphonylurea receptor type 2 family signature UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 Similarity : Belongs to the ABC transporter family. Conjugate transporter (TC 3.A.1.208) subfamilySimilarity : Contains 2 ABC transmembrane type-1 domainsSimilarity : Contains 2 ABC transporter domains
Gene Function for ABCC9
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_020297 Applied Biosystems Silencer ® siRNAs for ABCC9 Sigma-Aldrich siRNA and siRNA Panels for ABCC9 Sigma-Aldrich shRNA for ABCC9 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_005691                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_005691                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC033804  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_020297 UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 Function : Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smoothmuscle-type KATP channels with KIR6.2. KIR6.2 forms the channel pore while SUR2 is required foractivation and regulation
Genatlas biochemistry entry for ABCC9 :ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 9
5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abcc9) :5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
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Pathways & Interactions for ABCC9
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Interacting proteins for ABCC9 (ENSP00000261201 3 ) via UniProtKB, MINT, and/or STRING About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for ABCC9 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ABCC9 6 Novoseek chemical compound relationships for ABCC9 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
sulfonylurea
92.64
18
16672225 (2), 17110465 (1), 10469651 (1), 8630239 (1) (see all 16 )
katp
91.91
36
8826984 (2), 10224138 (2), 11054556 (2), 10099692 (1) (see all 27 )
mgatp
71.55
4
10436001 (1), 12145099 (1), 15023854 (1), 11714894 (1)
mgadp
71.27
3
12145099 (1), 11714894 (1), 12475777 (1)
potassium
65.77
4
10469651 (1), 10436001 (1), 18316485 (1), 12959913 (1)
atp
45.02
15
10436001 (4), 10224138 (2), 9692785 (1), 9755153 (1) (see all 7 )
About this table 2 PharmGKB drug compound relationships for ABCC9 gene About this table
Transcripts for ABCC9(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_020297 Sigma-Aldrich siRNA and siRNA Panels for ABCC9 Sigma-Aldrich shRNA for ABCC9 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005691 NM_020297 NM_020298
REFSEQ mRNAs for ABCC9 gene (3 alternative transcripts): NM_005691.2 NM_020297.2 NM_020298.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005691 NM_020297 NM_020298
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_005691                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_005691                                  untagged cDNA clones in CMV expression vector (see all 4 ): BC033804  
Additional cDNA sequence: AK056519.1 AK092535.1 AK094171.1 BC033804.1 BX537513.1 BX640893.1 CR619334.1
5 DOTS entries : DT.40189058 DT.315094 DT.95267937 DT.99932355 DT.99954570
24/56 AceView cDNA sequences (see all 56
):CR619334 BE148672 AK092535 CA389699 CA390366 AA687622 AA233923 AA716277 AA329631 AW172466 BX640893 AK056519 BG564434 AA234172 BQ004763 BX432024 CA389496 BX104670 NM_020297 AI015113 CD630005 BX499619 AA452215 NM_020298
highest scoring ESTs for ABCC9 :BI763735 BX497417 H16193 R73927 AA234172 AA452215 AK056519 AW172466 BC033804 BE550227
Unigene Cluster for ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9 Hs.446050 [show with all ESTs ] Unigene Representative Sequence: NM_020297 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC9 ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 SP1 :                                               SP2 :               -                                 SP3 :       -                                        
About this scheme ECgene alternative splicing isoforms for ABCC9 4 Ensembl transcripts including schematic representations : ENST00000261201
ENST00000326684
ENST00000261200
ENST00000345162
Expression for ABCC9
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ABCC9 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ABCC9 1 / 2 / 3
13 probe-sets matching ABCC9 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.446050 Expression variation in blood from EXPOLDB for ABCC9
Orthologs for ABCC9
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ABCC9 gene from 5/12 species (see all 12
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
ABCC91
--
ATP-binding cassette, sub-family C (CFTR/MRP), member more
92.81(n) 98.77(a)
486638 XM_847653.1 XP_852746.1
chimpanzee (Pan troglodytes)
ABCC91
--
ATP-binding cassette, sub-family C (CFTR/MRP), member more
99.74(n) 99.94(a)
465338 XM_001149571.1 XP_001149571.1
cow (Bos taurus)
ABCC91
--
ATP-binding cassette, sub-family C (CFTR/MRP), member more
91.85(n) 98.53(a)
522913 XM_601202.3 XP_601202.3
rat (Rattus norvegicus)
Abcc91
--
ATP-binding cassette, sub-family C (CFTR/MRP), member more
85.13(n) 97.22(a)
25560 NM_013040.2 NP_037172.2
mouse (Mus musculus)
Abcc91 , 5
6 (70.00 cM) 5
ATP-binding cassette, sub-family C (CFTR/MRP), member more 1, 5
85.96(n) 1 97.09(a) 1
20928 1 NM_011511.2 1 NP_035641.1 1 AF003531 5 AI414027 5 (see all 14 )
About this table Species with no ortholog for ABCC9 ENSEMBL Gene Tree for ABCC9 Paralogs for ABCC9 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ABCC9 gene ABCC10 2 CFTR 2 ABCC8 2
SNPs/Variants for ABCC9 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ABCC9 (up to first 250kb)
Disorders & Mutations for ABCC9
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601439 disorders : 608569 UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706
Defects in ABCC9 are the cause of cardiomyopathy dilated type 1O (CMD1O) [MIM:608569];also known as dilated cardiomyopathy with ventricular tachycardia. Dilated cardiomyopathy is adisorder characterized by ventricular dilation and impaired systolic function, resulting incongestive heart failure and arrhythmia. Patients are at risk of premature death
1 Novoseek disease relationship for ABCC9 gene
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis
0.00
1
16829188 (1)
About this table GeneTests: ABCC9 Dilated Cardiomyopathy Human Gene Mutation Database : ABCC9 Human Genome Epidemiology Navigator: ABCC9 (2 documents)
Medical News for ABCC9 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ABCC9 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/81 PubMed articles for ABCC9 gene (see all 81
): ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. (PubMed id 15034580) 2, 3, 4 Bienengraeber M....Terzic A. (2004) Toward understanding the assembly and structure of KATP channels. (PubMed id 9457174) 2, 3, 4 Aguilar-Bryan L.... Bryan J. (1998) A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. (PubMed id 8630239) 1, 3, 7 Inagaki N....Seino S. (1996) Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels. (PubMed id 8826984) 1, 3 Chutkow W.A....Burant C.F. (1996) Molecular characterization of human SUR2-containing K(ATP) channels. (PubMed id 11054556) 1, 3 Davis-Taber R....Scott V.E. (2000) Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation. (PubMed id 16672225) 1, 3 Kang Y....Gaisano H.Y. (2006) Syntaxin-1A inhibits cardiac KATP channels by its actions on nucleotide binding folds 1 and 2 of sulfonylurea receptor 2A. (PubMed id 15339904) 1, 3 Kang Y....Gaisano H.Y. (2004) SUR2 subtype (A and B)-dependent differential activation of the cloned ATP-sensitive K+ channels by pinacidil and nicorandil. (PubMed id 9692785) 1, 3 Shindo T....Kurachi Y. (1998) Pharmaco-topology of sulfonylurea receptors. Separate domains of the regulatory subunits of K(ATP) channel isoforms are required for selective interaction with K(+) channel openers. (PubMed id 10625598) 1, 3 Babenko A.P....Bryan J. (2000) Potassium channel openers require ATP to bind to and act through sulfonylurea receptors. (PubMed id 9755153) 1, 3 Schwanstecher M....Bryan J. (1998)
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Genome Databases showing ABCC9
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ABCC9
(According to HUGE )
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--
Specialized Databases showing ABCC9 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ABCC9
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-- Services for ABCC9 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009