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Aliases for ABCC9 Gene

Aliases for ABCC9 Gene

  • ATP Binding Cassette Subfamily C Member 9 2 3 5
  • Sulfonylurea Receptor 2 2 3 4
  • ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9 2 3
  • SUR2 3 4
  • ATP-Binding Cassette Transporter Sub-Family C Member 9 3
  • EC 3.6.3.44 63
  • ATFB12 3
  • ABC37 3
  • CANTU 3
  • CMD1O 3

External Ids for ABCC9 Gene

Previous GeneCards Identifiers for ABCC9 Gene

  • GC12M022239
  • GC12M021955
  • GC12M021852
  • GC12M021845
  • GC12M021844
  • GC12M021723
  • GC12M021950

Summaries for ABCC9 Gene

Entrez Gene Summary for ABCC9 Gene

  • 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]

GeneCards Summary for ABCC9 Gene

ABCC9 (ATP Binding Cassette Subfamily C Member 9) is a Protein Coding gene. Diseases associated with ABCC9 include Hypertrichotic Osteochondrodysplasia and Atrial Fibrillation, Familial, 12. Among its related pathways are Inwardly rectifying K+ channels and Transmission across Chemical Synapses. GO annotations related to this gene include transporter activity and ion channel binding. An important paralog of this gene is ABCC3.

UniProtKB/Swiss-Prot for ABCC9 Gene

  • Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

Gene Wiki entry for ABCC9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCC9 Gene

Genomics for ABCC9 Gene

Regulatory Elements for ABCC9 Gene

Enhancers for ABCC9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ABCC9 on UCSC Golden Path with GeneCards custom track

Promoters for ABCC9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABCC9 on UCSC Golden Path with GeneCards custom track

Genomic Location for ABCC9 Gene

Chromosome:
12
Start:
21,797,389 bp from pter
End:
21,941,863 bp from pter
Size:
144,475 bases
Orientation:
Minus strand

Genomic View for ABCC9 Gene

Genes around ABCC9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCC9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABCC9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCC9 Gene

Proteins for ABCC9 Gene

  • Protein details for ABCC9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60706-ABCC9_HUMAN
    Recommended name:
    ATP-binding cassette sub-family C member 9
    Protein Accession:
    O60706
    Secondary Accessions:
    • O60707

    Protein attributes for ABCC9 Gene

    Size:
    1549 amino acids
    Molecular mass:
    174223 Da
    Quaternary structure:
    • Interacts with KCNJ11.
    Miscellaneous:
    • May contribute to the regulation of sleep duration. An intronic variant of this gene may account for about 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.

    Alternative splice isoforms for ABCC9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABCC9 Gene

Proteomics data for ABCC9 Gene at MOPED

Selected DME Specific Peptides for ABCC9 Gene

Post-translational modifications for ABCC9 Gene

  • Glycosylation at Asn 9, Asn 326, Asn 330, Asn 333, and Asn 334
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCC9 Gene

Antibody Products

  • Abcam antibodies for ABCC9

Domains & Families for ABCC9 Gene

Gene Families for ABCC9 Gene

Suggested Antigen Peptide Sequences for ABCC9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60706

UniProtKB/Swiss-Prot:

ABCC9_HUMAN :
  • Contains 2 ABC transmembrane type-1 domains.
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
Domain:
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.
genes like me logo Genes that share domains with ABCC9: view

Function for ABCC9 Gene

Molecular function for ABCC9 Gene

GENATLAS Biochemistry:
ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 9
UniProtKB/Swiss-Prot Function:
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

Enzyme Numbers (IUBMB) for ABCC9 Gene

Gene Ontology (GO) - Molecular Function for ABCC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity IEA --
GO:0005524 ATP binding IEA --
GO:0015459 potassium channel regulator activity ISS --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with ABCC9: view
genes like me logo Genes that share phenotypes with ABCC9: view

Human Phenotype Ontology for ABCC9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCC9 Gene

MGI Knock Outs for ABCC9:

Animal Model Products

  • Taconic Biosciences Mouse Models for ABCC9

No data available for Transcription Factor Targets and HOMER Transcription for ABCC9 Gene

Localization for ABCC9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCC9 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCC9 Gene COMPARTMENTS Subcellular localization image for ABCC9 gene
Compartment Confidence
plasma membrane 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ABCC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ABCC9: view

Pathways & Interactions for ABCC9 Gene

genes like me logo Genes that share pathways with ABCC9: view

Pathways by source for ABCC9 Gene

Gene Ontology (GO) - Biological Process for ABCC9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport IEA,TAS 8826984
GO:0007165 signal transduction IEA,TAS 8826984
GO:0008152 metabolic process IEA --
GO:0071805 potassium ion transmembrane transport IEA --
GO:1903779 regulation of cardiac conduction TAS --
genes like me logo Genes that share ontologies with ABCC9: view

No data available for SIGNOR curated interactions for ABCC9 Gene

Drugs & Compounds for ABCC9 Gene

(12) Drugs for ABCC9 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker, Target, modulator 109
Adenosine triphosphate Approved Nutra Target 0

(4) Additional Compounds for ABCC9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABCC9: view

Transcripts for ABCC9 Gene

Unigene Clusters for ABCC9 Gene

ATP-binding cassette, sub-family C (CFTR/MRP), member 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABCC9 Gene

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: -

Relevant External Links for ABCC9 Gene

GeneLoc Exon Structure for
ABCC9
ECgene alternative splicing isoforms for
ABCC9

Expression for ABCC9 Gene

mRNA expression in normal human tissues for ABCC9 Gene

mRNA differential expression in normal tissues according to GTEx for ABCC9 Gene

This gene is overexpressed in Muscle - Skeletal (x5.6).

Protein differential expression in normal tissues from HIPED for ABCC9 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (63.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ABCC9 Gene



SOURCE GeneReport for Unigene cluster for ABCC9 Gene Hs.732701

genes like me logo Genes that share expression patterns with ABCC9: view

Protein tissue co-expression partners for ABCC9 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ABCC9 Gene

Orthologs for ABCC9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCC9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABCC9 35
  • 90.38 (n)
  • 96.89 (a)
ABCC9 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCC9 35
  • 91.72 (n)
  • 97.41 (a)
ABCC9 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcc9 35
  • 84.96 (n)
  • 95.47 (a)
Abcc9 16
Abcc9 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABCC9 35
  • 99.83 (n)
  • 100 (a)
ABCC9 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcc9 35
  • 84.2 (n)
  • 95.6 (a)
oppossum
(Monodelphis domestica)
Mammalia ABCC9 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 57 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
-- 36
  • 57 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ABCC9 35
  • 79.41 (n)
  • 88.7 (a)
ABCC9 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCC9 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcc9 35
  • 71 (n)
  • 82.22 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18555 35
zebrafish
(Danio rerio)
Actinopterygii abcc9 35
  • 71.36 (n)
  • 81.8 (a)
abcc9 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sur 37
  • 33 (a)
Sur 35
  • 49.19 (n)
  • 39.01 (a)
Sur 36
  • 23 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009799 35
  • 47.41 (n)
  • 40.16 (a)
worm
(Caenorhabditis elegans)
Secernentea C18C4.2 37
  • 22 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2081 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
Species with no ortholog for ABCC9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCC9 Gene

ENSEMBL:
Gene Tree for ABCC9 (if available)
TreeFam:
Gene Tree for ABCC9 (if available)

Paralogs for ABCC9 Gene

Paralogs for ABCC9 Gene

genes like me logo Genes that share paralogs with ABCC9: view

Variants for ABCC9 Gene

Sequence variations from dbSNP and Humsavar for ABCC9 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_018483 Cardiomyopathy, dilated 1O (CMD1O)
rs35404804 - 21,842,466(+) GGAGG(A/G)ATGTG reference, synonymous-codon
VAR_066210 Atrial fibrillation, familial, 12 (ATFB12)
VAR_068485 Hypertrichotic osteochondrodysplasia (HTOCD)
VAR_068486 Hypertrichotic osteochondrodysplasia (HTOCD)

Structural Variations from Database of Genomic Variants (DGV) for ABCC9 Gene

Variant ID Type Subtype PubMed ID
nsv470275 CNV Gain 18288195
esv2109102 CNV Deletion 18987734
esv2745624 CNV Deletion 23290073
esv2745625 CNV Deletion 23290073
esv2745626 CNV Deletion 23290073
nsv898899 CNV Loss 21882294
dgv1392n71 CNV Loss 21882294
esv2745627 CNV Deletion 23290073
esv2142868 CNV Deletion 18987734
esv2745628 CNV Deletion 23290073
esv2662950 CNV Deletion 23128226
nsv53790 CNV Loss 16902084
nsv53503 CNV Loss 16902084
esv1937162 CNV Deletion 18987734
esv2439418 CNV Insertion 19546169
esv270968 CNV Insertion 20981092
esv273692 CNV Insertion 20981092
nsv638 CNV Insertion 18451855

Variation tolerance for ABCC9 Gene

Residual Variation Intolerance Score: 1.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCC9 Gene

Human Gene Mutation Database (HGMD)
ABCC9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCC9 Gene

Disorders for ABCC9 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ABCC9 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypertrichotic osteochondrodysplasia
  • cantu syndrome
atrial fibrillation, familial, 12
  • atfb12
cardiomyopathy, dilated, 1o
  • cardiomyopathy, dilated 1o
acromegaloid facial appearance syndrome
  • afa syndrome
acromegaloid hypertrichosis syndrome
  • acromegaloid facial appearance syndrome and hypertrichosis
- elite association - COSMIC cancer census association via MalaCards
Search ABCC9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ABCC9_HUMAN
  • Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: 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. {ECO:0000269 PubMed:17245405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15034580}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:22608503, ECO:0000269 PubMed:22610116, ECO:0000269 PubMed:26621776}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABCC9

Genetic Association Database (GAD)
ABCC9
Human Genome Epidemiology (HuGE) Navigator
ABCC9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCC9
genes like me logo Genes that share disorders with ABCC9: view

No data available for Genatlas for ABCC9 Gene

Publications for ABCC9 Gene

  1. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. (PMID: 15034580) Bienengraeber M. … Terzic A. (Nat. Genet. 2004) 2 3 4 67
  2. Cardiac sarcolemmal K(ATP) channels: Latest twists in a questing tale! (PMID: 19607836) Zhang H. … Nichols C.G. (J. Mol. Cell. Cardiol. 2010) 3 23
  3. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PMID: 19952277) Ellis J.A. … Harrap S.B. (Physiol. Genomics 2010) 3 23
  4. Post-infarction treatment with simvastatin reduces myocardial no-reflow by opening of the KATP channel. (PMID: 16829188) Yang Y.J. … Chen Z.J. (Eur. J. Heart Fail. 2007) 23 25
  5. Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation. (PMID: 16672225) Kang Y. … Gaisano H.Y. (J. Biol. Chem. 2006) 3 23

Products for ABCC9 Gene

Sources for ABCC9 Gene

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