SPNS2 Gene Summary [Human]
The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | SPNS2 |
| Official Name | sphingolipid transporter 2 [Source:HGNC Symbol;Acc:HGNC:26992] |
| Ensembl ID | ENSG00000183018 |
| Bio databases IDs | |
| Aliases | sphingolipid transporter 2 |
| Synonyms | BC011467, DFNB115, SLC62A2, SLC63A2, Spinster 2, SPNS lysolipid transporter 2, sphingosine-1-phosphate |
| 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 SPNS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphoglycerate transporter family protein
- benzoate transport
- Major Facilitator Superfamily
- sphingolipid transporter
- transporter
- D-galactonate transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- diabetic nephropathy
- hereditary disorder
- sensorineural hearing loss
- lymphopenia
- autosomal recessive deafness type 115
- epileptic seizure
- dextran sodium sulfate-induced colitis
- hearing loss
- polycystic kidney disease
role in cell
- expression in
- quantity
- number
- generation in
- production in
- homeostasis
- bacterial load
- trafficking
- migration by
- oxygen 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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SPNS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- lymph node development
- sphingosine-1-phosphate signaling pathway
- B cell homeostasis
- bone development
- T cell homeostasis
- sensory perception of sound
- lipid transport
- regulation of T cell migration
- regulation of humoral immune response
- lymphocyte migration
- regulation of eye pigmentation
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- membrane
- endosome membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane transporter activity
- sphingolipid transporter activity