SLC6A2 Gene Summary [Human]
This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A2 |
| Official Name | solute carrier family 6 member 2 [Source:HGNC Symbol;Acc:HGNC:11048] |
| Ensembl ID | ENSG00000103546 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 2, norepinephrine transporter |
| Synonyms | Nat, NAT1, NE-T, NET1, norepinephrine transporter, PRESYNAPTIC NOREPINEPHRINE TRANSPORTER, SLC6A5, solute carrier family 6 member 2, solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 |
| 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 SLC6A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- dopamine:sodium symporter
- intracellular loop
- Sodium:neurotransmitter symporter family
- neurotransmitter transporter
- protein binding
- noradrenaline:sodium symporter
- monoamine transporter
- actin binding
- transmembrane domain
- alpha-tubulin binding
- intracellular domain
- extracellular loop
- Solute carrier families 5 and 6-like; solute binding domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colon cancer
- infection
- stroke
- rheumatoid arthritis
- arthritis
- cancer
- neuroblastoma
- upper respiratory tract allergy
- fibromyalgia
- pain
role in cell
- quantity
- expression in
- phosphorylation in
- binding
- synaptic transmission
- cell viability
- accumulation in
- uptake in
- outflow
- homeostasis
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
- synaptic vesicle membrane
- Cytoplasm
- cell surface
- perinuclear region
- intracellular membranes
- membrane surface
- cellular membrane
- presynaptic membrane
- nerve ending
- synaptosomes
- dense-core vesicles
- secretory granules
- membrane rafts
- membrane processes
- perikaryon
- axons
- dendrites
- axon terminals
- presynaptic terminals
- axon branches
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to pain
- norepinephrine transport
- norepinephrine uptake
- neurotransmitter transport
- neuron homeostasis
- dopamine uptake involved in synaptic transmission
- synaptic transmission
- sodium ion transmembrane transport
- response to xenobiotic stimulus
- amino acid transport
- monoamine transport
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- membrane
- neuronal cell body membrane
- axon
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- neurotransmitter transporter activity
- protein binding
- neurotransmitter:sodium symporter activity
- actin binding
- metal ion binding
- beta-tubulin binding
- dopamine:sodium symporter activity
- alpha-tubulin binding
- monoamine transmembrane transporter activity
- norepinephrine:sodium symporter activity