Description: Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA. RefSeq Summary (NM_007175): 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]. Transcript (Including UTRs) Position: hg19 chr8:37,594,097-37,615,319 Size: 21,223 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr8:37,595,441-37,611,633 Size: 16,193 Coding Exon Count: 11
ID:ERLN2_HUMAN DESCRIPTION: RecName: Full=Erlin-2; AltName: Full=Endoplasmic reticulum lipid raft-associated protein 2; AltName: Full=Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2; Short=SPFH domain-containing protein 2; FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Also involved in ITPR1 degradation by the ERAD pathway. SUBUNIT: Interacts with activated ITPR1, independently of the degree of ITPR1 polyubiquitination (By similarity). Forms a heteromeric complex with ERLIN1. In complex with ERLIN1, interacts with RNF170. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in ERLIN2 are the cause of spastic paraplegia autosomal recessive type 18 (SPG18) [MIM:611225]. A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18 is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. SIMILARITY: Belongs to the band 7/mec-2 family. SEQUENCE CAUTION: Sequence=AAH50611.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01145 - SPFH domain / Band 7 family
ModBase Predicted Comparative 3D Structure on O94905
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0018108 peptidyl-tyrosine phosphorylation GO:0030433 ER-associated ubiquitin-dependent protein catabolic process GO:0032933 SREBP signaling pathway GO:0045541 negative regulation of cholesterol biosynthetic process GO:0045717 negative regulation of fatty acid biosynthetic process GO:0055085 transmembrane transport