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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.
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Transporters
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170 (PubMed:19240031, PubMed:21610068). Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Interacts with SCAP, INSIG1, SREBF1 and SREBF2 under cholesterol sufficiency conditions; indicative for an association with the SCAP-SREBP-INSIG complex (PubMed:24217618). Probably part of an AMFR/gp78 and INSIG1-containing ubiquitin ligase complex involved in ERAD of HMGCR. Interacts with TMUB1; TMUB1 bridges the association with AMFR. Interacts with SYVN1 and RNF139 (PubMed:21343306). Interacts with TMEM259 (By similarity). Interacts with TMEM41B (PubMed:30352685).
More Types Infomation
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- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB, IHC, ICC
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For Research Use Only. Not For Clinical Use.