ERLIN2, Official Symbol ERLIN2provided by HGNC Official Full Name ER lipid raft associated 2provided by HGNC Primary source HGNC:HGNC:1356 See related Ensembl:ENSG00000147475 MIM:611605; AllianceGenome:HGNC:1356 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NET32; SPFH2; SPG18; C8orf2; Erlin-2 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 20.3), kidney (RPKM 15.4) and 25 other tissues See more Orthologs mouse all