ABCC9 Gene
protein-coding GIFtS : 64
GCID: GC12 M021852
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
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Aliasesfor ABCC9 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9 1 2 ATFB122 SUR21 2 3 5 CANTU2 CMD1O1 2 5 ATP-Binding Cassette Sub-Family C Member 92 Sulfonylurea Receptor 22 3 ATP-Binding Cassette Transporter Sub-Family C Member 92 ABC372 EC 3.6.3.448
Export aliases for ABCC9 gene to outside databases Previous GC identifers: GC12M022239 GC12M021955 GC12M021845 GC12M021844 GC12M021723
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Summariesfor ABCC9 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene 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, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Apr 2011) UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 Function : Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channelswith KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation Gene Wiki entry for ABCC9
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Genomic Viewsfor ABCC9 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000012.11 NC_018923.1 NT_009714.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ABCC9 gene promoter: COUP-TF1 GR COUP HNF-4alpha2 HNF-4alpha1 COUP-TF IRF-7A Cart-1 ZIC2/Zic2 GR-alpha Other transcription factors Search SABiosciences Chromatin IP Primers for ABCC9 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABCC9
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track 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 information about chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12M021852: view genomic region
(about GC identifiers )
Start:
21,950,323 bp from pter
End:
22,094,336 bp from pter
Size:
144,014 bases
Orientation:
minus strand
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Proteinsfor ABCC9 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 (See
protein sequence )Recommended Name: ATP-binding cassette sub-family C member 9 Size : 1549 amino acids; 174223 Da
Subunit : Interacts with KCNJ11
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Miscellaneous : May contribute to the regulation of sleep duration. An intronic variant of this gene may account forabout 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes are expected to contribute to the regulation of sleep duration
Secondary accessions : O60707Alternative splicing : 2 isoforms : O60706-1 O60706-2 Explore the universe of human proteins at neXtProt for ABCC9: NX_O60706 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O60706 2 DME Specific Peptides for ABCC9 (O60706 ) ABCC9 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_005682.2 NP_064693.2 ENSEMBL proteins: ENSP00000261200 ENSP00000440521 ENSP00000261201 ENSP00000317518 ENSP00000442604 ENSP00000261202 Reactome Protein details: O60706 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
ABCC9 for ontologies About GeneDecksing ABCC9 Antibody Products: Assay Products for ABCC9:
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Protein
Domains / Familiesfor ABCC9 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
ABCC9 for domains About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
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 superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamilySimilarity : Contains 2 ABC transmembrane type-1 domainsSimilarity : Contains 2 ABC transporter domains
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Functionfor ABCC9 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706 Function : Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channelswith KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation
Genatlas biochemistry entry for ABCC9 : ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 9 Enzyme Number (IUBMB): EC 3.6.3.44 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ABCC9 (NM_020297 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCC9 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCC9
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC9
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005215 transporter activity
TAS 8826984 GO:0005524 ATP binding
IEA -- GO:0008281 sulfonylurea receptor activity
ISS -- GO:0015459 potassium channel regulator activity
ISS -- GO:0042626 ATPase activity, coupled to transmembrane movement of substances
IEA --
ABCC9 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for ABCC9 :Animal Models: Mouse knock-outs for ABCC9: Abcc9 tm1Lex Abcc9 tm1Cfb 5 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Abcc9) :
ABCC9 for phenotypes About GeneDecksing
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Pathways & Interactionsfor ABCC9 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/8 super-pathways (see all 8 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Potassium Channels 2 ABC-family proteins mediated transport 3 CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) 4 ATP sensitive Potassium channels 5 Antiarrhythmic Pathway, Pharmacodynamics
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for ABCC9 1 GeneGo (Thomson Reuters) Pathway for ABCC9 5/6
Reactome Pathways for ABCC9 (see all 6 )1 PharmGKB Pathway for ABCC9 1
Kegg Pathway (Kegg details for ABCC9) :
ABCC9 for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCC9 STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)5/8 Interacting proteins for ABCC9 (O60706 3 ENSP00000261200 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 8 )About this table Gene Ontology (GO): 5 biological process terms (GO ID links to tree view) : About this table
ABCC9 for ontologies About GeneDecksing
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Drugs & Compoundsfor ABCC9 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
ABCC9 for compounds About GeneDecksing Browse Tocris compounds for ABCC9 2 DrugBank Compounds for ABCC9 About this table 10/15 Novoseek chemical compound relationships for ABCC9 gene (see all 15 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
sulfonylurea
92.5
21
16672225 (2), 17110465 (1), 19607836 (1), 15102948 (1) (see all 17 )
katp
92.1
42
8826984 (2), 10224138 (2), 11054556 (2), 10099692 (1) (see all 28 )
glibenclamide
77.4
12
11714894 (2), 15561900 (1), 16845255 (1), 8630239 (1) (see all 10 )
meglitinide
75.7
2
10347249 (1), 12475777 (1)
pinacidil
71
3
9692785 (1), 10625598 (1), 17301957 (1)
mgatp
70.9
4
10436001 (1), 12145099 (1), 15023854 (1), 11714894 (1)
mgadp
70.7
3
12145099 (1), 11714894 (1), 12475777 (1)
tolbutamide
69.7
2
14676579 (1), 12475777 (1)
diazoxide
69.4
3
14676579 (1), 10625598 (1), 17301957 (1)
glimepiride
67
2
11078468 (1), 12475777 (1)
Search CenterWatch for drugs/clinical trials and news about ABCC9
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Transcriptsfor ABCC9 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for ABCC9 gene (3 alternative transcripts): NM_005691.2 NM_020297.2 NM_020298.2 Unigene Cluster for ABCC9:
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 Hs.732701 [show with all ESTs ] Unigene Representative Sequence: NM_020297 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000261200 (uc001rfh.3 ) ENST00000544039 ENST00000261201 (uc001rfi.1 )ENST00000326684 (uc001rfk.3 ) ENST00000538350 (uc001rfl.1 ) ENST00000345162 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): ABCC9 (NM_020297 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ABCC9 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ABCC9
Additional cDNA sequence: AK056519.1 AK092535.1 AK094171.1 BC033804.1 BX537513.1 BX640893.1
5 DOTS entries : DT.40189058 DT.315094
DT.99932355 DT.95267937 DT.99954570 24/56 AceView cDNA sequences (see all 56 ):
BQ004763 AA687622 BE148672 AW172466 BG564434 AK092535 CR619334 AA329631 CA390366 CA389699 AA234172 AA716277 AK056519 BX640893 AA233923 BC033804 NM_020298 BX104670 BG619262 CD630008 BX463312 AI093397 CD630003 NM_020297 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC9 About this scheme 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 :       -                                        
ECgene alternative splicing isoforms for ABCC9
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Expression for ABCC9 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section ABCC9 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image ABCC9 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Lateral Plate Mesoderm Splanchnic Mesoderm Pericytes Pericytes Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See ABCC9 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for ABCC9 SOURCE GeneReport for Unigene cluster: Hs.732701 SABiosciences Custom PCR Arrays for ABCC9 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCC9Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat ABCC9 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCC9 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCC9 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC9
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Orthologsfor ABCC9 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for ABCC9 gene from 6/20 species (see all 20 ) About this table
ENSEMBL Gene Tree for ABCC9 (if available)TreeFam Gene Tree for ABCC9 (if available)
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Paralogsfor ABCC9 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for ABCC9 gene ABCC4 2 ABCC12 2 ABCC1 2 ABCC10 2 CFTR 2 ABCC8 2 ABCC5 2 ABCC3 2 ABCC6 2 ABCC2 2 ABCC11 2 18/22 SIMAP similar genes for ABCC9 using alignment to 5 protein entries: ABCC9_HUMAN (see all proteins )
(see all similar genes ):ABCC8 ABCB4 DKFZp434I2115 TAP1 CFTR MOAT-B NG-TRA ABCC10 DKFZp781G125 ABCC2 ABCC4 ABCC1 ABCC11 ABCC12 ABCC3 MRP3 ABCC5 ABCC6
ABCC9 for paralogs About GeneDecksing
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Genomic Variantsfor ABCC9 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 12 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for ABCC9 (21950323 - 22094336 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 7 variations for ABCC9 7 Indels : 101448 39886 45023 11602 45022 39887 11603 Human Gene Mutation Database (HGMD) : ABCC9 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCC9
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Disorders
/ Diseasesfor ABCC9 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
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ABCC9 for disorders About GeneDecksing OMIM gene information: 601439 OMIM 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 a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death Defects in ABCC9 are the cause of familial atrial fibrillation type 12 (ATFB12) [MIM:614050]. ATFB12 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure Defects in ABCC9 are the cause of hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]. A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability 19 diseases for ABCC9 : About MalaCards cardiomyopathy coronary artery vasospasm atrial fibrillation pancreatitis familial atrial fibrillation ventricular tachycardia myocardial infarction acute myocardial infarction brachydactyly dilated cardiomyopathy hypertrichosis essential hypertension hypertension with brachydactyly diabetes mellitus epididymitis hypertension choroiditis ischemia hypoxia 2 diseases from the University of Copenhagen DISEASES database for ABCC9 :Coronary artery vasospasm Hypertrichosis 1 Novoseek disease relationship for ABCC9 gene About this table
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PubMed IDs for Articles with Shared Sentences (# sentences)
necrosis
0
1
16829188 (1)
GeneTests: ABCC9 Dilated Cardiomyopathy Human Genome Epidemiology (HuGE) Navigator: ABCC9 (7 documents) Export disorders for ABCC9 gene to outside databases
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Publicationsfor ABCC9 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
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5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
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10 fRNAdb )
About This Section PubMed articles for ABCC9 gene, integrated from 9 sources (see all 102 ): (articles sorted by number of sources associating them with ABCC9) Utopia : connect your pdf to the dynamic world of online information
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. (PubMed id 15034580) 1 , 2 , 3 Bienengraeber M....Terzic A. (2004) Toward understanding the assembly and structure of KATP channels. (PubMed id 9457174) 1 , 2 , 3 Aguilar-Bryan L.... Bryan J. (1998) Cantu syndrome is caused by mutations in ABCC9. (PubMed id 22608503) 1 , 2 van Bon B.W....Hoischen A. (2012) Dominant missense mutations in ABCC9 cause Cantu syndrome. (PubMed id 22610116) 1 , 2 Harakalova M.... Cuppen E. (2012) 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 , 9 Chutkow W.A....Burant C.F. (1996) Molecular characterization of human SUR2-containing K(ATP) channels. (PubMed id 11054556) 1 , 9 Davis-Taber R....Scott V.E. (2000) Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KC NJ8 and ABCC9. (PubMed id 19952277) 1 , 9 Ellis J.A....Harrap S.B. (2010) Cardiac sarcolemmal K(ATP) channels: Latest twists in a questing tale! (PubMed id 19607836) 1 , 9 Zhang H....Nichols C.G. (2010) Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation. (PubMed id 16672225) 1 , 9 Kang Y....Gaisano H.Y. (2006) Pretreatment with fosinopril or valsartan reduces myocardial no-reflow after acute myocardial infarction and reperfusion. (PubMed id 16845255) 7, 9 Zhao J.L....Gao R.L. (2006)
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Specialized Databases showing ABCC9 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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PharmGKB entry for ABCC9 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC9 Protein Spotlight http://web.expasy.org/spotlight/back_issues/sptlt139.shtml ABCMdb http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O60706
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About This Section Patent Information for ABCC9 gene: Search GeneIP for patents involving ABCC9 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ABCC9 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for ABCC9 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for ABCC9 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for ABCC9 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for ABCC9 OriGene 3'-UTR Clone for ABCC9 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for ABCC9 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ABCC9 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing ABCC9 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat ABCC9 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat ABCC9 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat ABCC9 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat ABCC9
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