ERLIN2 Gene Summary [Human]
This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Details
| Type | Retained Intron |
| Official Symbol | ERLIN2 |
| Official Name | ER lipid raft associated 2 [Source:HGNC Symbol;Acc:HGNC:1356] |
| Ensembl ID | ENSG00000147475 |
| Bio databases IDs | |
| Aliases | ER lipid raft associated 2 |
| Synonyms | BC036333, C87251, C8orf2, ER lipid raft associated 2, NET32, RGD1309010, SPFH2, SPG18, SPG18A, SPG18B |
| 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 ERLIN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- SPFH_like
- prohibitin homologues
- protein binding
- SPFH domain / Band 7 family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic paraplegia type 18
- hereditary spastic paraplegia
- spastic paraplegia
- autosomal dominant spastic paraplegia type 18A
- neonatal late-onset sepsis
- breast cancer
- autosomal recessive nonsyndromic mental retardation
- autosomal dominant hereditary spastic paraplegia
role in cell
- degradation in
- ubiquitination 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.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- microsomal membrane
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ERLIN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of fatty acid biosynthetic process
- SREBP-mediated signaling pathway
- regulation of cholesterol biosynthetic process
- negative regulation of cholesterol biosynthetic process
- cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane raft
- cytosol
- endoplasmic reticulum
- macromolecular complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ubiquitin protein ligase binding
- protein binding
- cholesterol binding