ERLIN2
ER Lipid Raft Associated 2
Gene Information Card
| Symbol | ERLIN2 |
|---|---|
| Full Name | ER Lipid Raft Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 11160 ncbi.nlm.nih.gov/gene/11160 |
| Ensembl ID | ENSG00000147419 |
| UniProt ID | O75477 |
| OMIM ID | 611605 |
| HGNC ID | 13529 |
| Aliases | SPG18, C8orf2, Erlin-2, SPFH2 |
Description
ERLIN2 encodes a protein that is a component of the endoplasmic reticulum (ER) membrane, involved in ER-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) and other misfolded proteins. It forms a complex with ERLIN1 and is implicated in lipid raft biology and cholesterol homeostasis. Mutations in ERLIN2 cause hereditary spastic paraplegia type 18 (SPG18), a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 18 (SPG18) | Loss-of-function mutations impair ERAD of IP3Rs, leading to ER stress and motor neuron degeneration. | OMIM #611605; ClinVar |
| Intellectual disability | Homozygous mutations in ERLIN2 associated with cognitive impairment in SPG18 patients. | OMIM #611605; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.1 | Neuronal model |
| HeLa (cervical carcinoma) | 10.4 | High expression |
| HEK293 (embryonic kidney) | 9.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Arg99His) | Missense | Rare | Loss of function; disrupts ERAD complex formation |
| c.349C>T (p.Arg117*) | Nonsense | Rare | Premature truncation; loss of protein function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ERLIN2 mutations are loss-of-function, leading to impaired ERAD and ER stress, causing SPG18.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • endoplasmic reticulum membrane (GO:0005789) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • ribosome binding (GO:0043022) |
| • intrinsic apoptotic signaling pathway in response to ER stress (GO:0070059) |
Pathways
• ERAD pathway (Reactome: R-HSA-9010553)
• Unfolded Protein Response (UPR)
Protein Summary
ERLIN2 is a 339-amino acid protein localized to the ER membrane, containing a SPFH (stomatin/prohibitin/flotillin/HflK/C) domain. It forms a heteromeric complex with ERLIN1 that recognizes and targets misfolded IP3 receptors for ubiquitination and proteasomal degradation. The protein also plays a role in cholesterol homeostasis and lipid raft organization. Loss of ERLIN2 function leads to accumulation of IP3Rs, ER stress, and selective vulnerability of motor neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERLIN2 Knockout HEK293 Cell Line | EDJ-KQ7308 | Human | 11160 | Details Get a Quote |
| ERLIN2 Knockout A-549 Cell Line | EDJ-KQ30986 | Human | 11160 | Details Get a Quote |
| ERLIN2 Knockout HCT 116 Cell Line | EDJ-KQ32362 | Human | 11160 | Details Get a Quote |
| ERLIN2 Knockout HeLa Cell Line | EDJ-KQ32363 | Human | 11160 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
