Recombinant Human Erlin-2 (ERLIN2), Truncated

Uniprot Id

O94905

Target Species

Human

Target Name

ERLIN2

Target Full Name

Erlin-2

Target Function

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. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex.

Target Involvement

Spastic paraplegia 18, autosomal recessive (SPG18)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.

Target Protein Families

Band 7/mec-2 family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

ERLIN2; C8orf2; SPFH2; UNQ2441/PRO5003/PRO9924; Erlin-2; Endoplasmic reticulum lipid raft-associated protein 2; Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; SPFH domain-containing protein 2

Target Background

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.