ERLIN2 Chromosome 8
ER lipid raft associated 2
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What This Gene Does
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]
Associated Conditions (10)
Spastic paraplegia
Inborn genetic diseases
Hereditary spastic paraplegia 18
autosomal dominant
ERLIN2-related disorder
Colon adenocarcinoma
Nonpapillary renal cell carcinoma
Hereditary spastic paraplegia
Abnormality of the nervous system
Spastic paraplegia 18a
Key Variants
RS112575270
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS149254654
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1802974214
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 18, Spastic paraplegia, autosomal dominant
Health Risk
RS191003311
Conflicting classifications of pathogenicity
Spastic paraplegia, ERLIN2-related disorder, Colon adenocarcinoma
Health Risk
RS200292614
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS368986092
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS745877709
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS763958615
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS778852699
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1554517382
Likely pathogenic
Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18
Health Risk
RS1585919102
Likely pathogenic
Health Risk
RS1803175282
Likely pathogenic
Abnormality of the nervous system, Abnormality of the nervous system
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112575270 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS149254654 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS1802974214 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 18, Spastic paraplegia, autosomal dominant |
| RS191003311 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, ERLIN2-related disorder, Colon adenocarcinoma |
| RS200292614 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS368986092 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS745877709 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS763958615 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS778852699 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia |
| RS1554517382 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS1585919102 | Health Risk | Likely pathogenic | — |
| RS1803175282 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2487294702 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2487326803 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS751227210 | Health Risk | Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1052410160 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1057519172 | Health Risk | Pathogenic | — |
| RS1393816662 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1585896928 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1585907153 | Health Risk | Pathogenic | — |
| RS1803294545 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2129680761 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2129710278 | Health Risk | Pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2129726150 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS2129728774 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS2487278624 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS2487289295 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2487305222 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2487305557 | Health Risk | Pathogenic | Spastic paraplegia 18a, autosomal dominant, Spastic paraplegia 18a |
| RS2487332031 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS398123002 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS587776893 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS779335579 | Health Risk | Pathogenic | Hereditary spastic paraplegia 18, Hereditary spastic paraplegia 18 |
| RS886041612 | Health Risk | Pathogenic | — |
| RS1554517327 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia 18a, autosomal dominant |
| RS1802811311 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia |
| RS1803173923 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia 18a, autosomal dominant |