ERLIN2 Back

ER lipid raft associated 2

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NCBI Description of ERLIN2
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.

Community Annotation of ERLIN2 Add / Edit ERLIN2: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ERLIN2 is highly significantly mutated in
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ERLIN2 is significantly mutated in
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ERLIN2 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ERLIN2