Aliases for ERLIN2 Gene
External Ids for ERLIN2 Gene
Previous HGNC Symbols for ERLIN2 Gene
Previous GeneCards Identifiers for ERLIN2 Gene
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]
GeneCards Summary for ERLIN2 Gene
ERLIN2 (ER Lipid Raft Associated 2) is a Protein Coding gene. Diseases associated with ERLIN2 include Spastic Paraplegia 18, Autosomal Recessive and Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome. Among its related pathways are FGFR1 mutant receptor activation and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is ERLIN1.
UniProtKB/Swiss-Prot Summary for ERLIN2 Gene
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618).