ABCC9 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ABCC9 |
| Official Name | ATP binding cassette subfamily C member 9 [Source:HGNC Symbol;Acc:HGNC:60] |
| Ensembl ID | ENSG00000069431 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily C member 9, sulfonylurea receptor 2 |
| Synonyms | ABC37, ATFB12, ATP binding cassette subfamily C member 9, ATP-binding cassette, sub-family C member 9, CANTU, CMD1O, IDMYS, LOC100360403, LOC102724274, sulphonylurea receptor 2, SUR2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCC9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- type I secretion system ABC transporter, PrtD family
- coiled-coil domain
- identical protein binding
- zDHHC ankyrin repeat binding domain
- ion channel
- heme ABC exporter, ATP-binding protein CcmA
- syntaxin binding
- thiol reductant ABC exporter, CydC subunit
- N-terminal helicase domain of the DEAD-box helicase superfamily
- ion channel binding
- multi drug resistance-associated protein (MRP)
- nickel import ATP-binding protein NikE
- nucleotide binding fold domain
- thiamine ABC transporter, ATP-binding protein
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
- Ethanolamine utilization - propanediol utilization
- potassium channel
- ATPase activity, coupled to transmembrane movement of substances
- channel regulator
- lipid A export permease/ATP-binding protein MsbA
- cation-transporting ATPase
- potassium channel regulator
- protein binding
- inorganic anion transporter
- ABC transporter transmembrane region
- Six-transmembrane helical domain of the ATP-binding cassette transporters
- binding protein
- cystic fibrosis transmembrane conductor regulator (CFTR)
- ABC transporter
- cation channel
- sulfonylurea receptor
- transporter
Pathways
Biological processes and signaling networks where the ABCC9 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- dilated cardiomyopathy 1o
- endometrium tumor
- ABCC9-related intellectual disability myopathy syndrome
- hypertrichotic osteochondrodysplasia
- chromosome 9q subtelomeric deletion syndrome
- hepatocellular carcinoma
- liver cancer
- familial atrial fibrillation type 12
regulated by
- adenosine triphosphate
- magnesium-adenosine triphosphate
- magnesium-adenosine diphosphate
- testosterone
- methylprednisolone
- glyburide
- diazoxide
- beta-estradiol
- TK1
- nateglinide
role in cell
- proliferation
- cell death
- apoptosis
- transmembrane potential
- organization
- response by
- contraction by
- oxidation in
- action potential
- consumption in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cellular membrane
- Mitochondria
- sarcomere
- acrosome
- sarcolemma
- transverse tubules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCC9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cardiac muscle cell contraction
- transmembrane transport
- potassium ion transmembrane transport
- response to ATP
- coronary vasculature development
- negative regulation of blood pressure
- response to xenobiotic stimulus
- cardiac conduction
- fibroblast proliferation
- heart morphogenesis
- defense response to virus
- regulation of action potential
Cellular Component
Where in the cell the gene product is active
- ATP-sensitive potassium channel complex
- membrane
- plasma membrane
- potassium ion-transporting ATPase complex
- sarcomere
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATPase activity, coupled to transmembrane movement of substances
- sulfonylurea receptor activity
- cation-transporting ATPase activity
- transmembrane transporter activity
- cation channel activity
- ATP-activated inward rectifier potassium channel activity
- anion transmembrane-transporting ATPase activity
- potassium channel activity
- ion channel binding
- ATP binding
- potassium channel regulator activity