SLC44A2 Gene Summary [Human]
Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in mitochondrion and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SLC44A2 |
| Official Name | solute carrier family 44 member 2 [Source:HGNC Symbol;Acc:HGNC:17292] |
| Ensembl ID | ENSG00000129353 |
| Bio databases IDs | |
| Aliases | solute carrier family 44 member 2 |
| Synonyms | 1110028E10Rik, CTL2, PP1292, RGD1309680, Slc44a2 predicted, solute carrier family 44 member 2, SOLUTE CARRIER family 44, member 2, solute carrier family 44 member 2 (CTL2 blood group) |
| 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 SLC44A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- amine/polyamine transporter
- organic cation transporter
- organic alcohol transporter
- choline transporter
- Plasma-membrane choline transporter
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- knee osteoarthritis
- heart disease
- pulmonary embolism
- pulmonary infarction
- bipolar disorder
- venous thromboembolism
- osteoarthritis
- systemic lupus erythematosus
- multiple sclerosis
- primary genetic hyperlipidemia
regulates
- synthetic promoter
- choline
- phosphatidylcholine
- luciferase reporter gene
role in cell
- number
- transport in
- adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- Mitochondria
- specific granule membrane
- mitochondrial outer membrane
- podocyte slit diaphragm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC44A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- choline transport
- transmembrane transport
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- phosphatidylcholine biosynthetic process
- ethanolamine transport
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- mitochondrion
- mitochondrial outer membrane
- plasma membrane
- lysosomal membrane
- specific granule membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane transporter activity
- antiporter activity
- choline transmembrane transporter activity
- ethanolamine transmembrane transporter activity