InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERLIN2

Summary

InnateDB Protein

IDBP-16840.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERLIN2

Protein Name

ER lipid raft associated 2

Synonyms

C8orf2; Erlin-2; NET32; SPFH2; SPG18;

Species

Homo sapiens

Ensembl Protein

ENSP00000276461

InnateDB Gene

IDBG-16836 (ERLIN2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:16835267, ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269PubMed:16835267, ECO:0000269PubMed:17502376, ECO:0000269PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.

Disease Associations

Spastic paraplegia 18, autosomal recessive (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. {ECO:0000269PubMed:21330303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous. {ECO:0000269PubMed:10449903}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	49 [view]
Protein-Protein	49 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0008219	cell death
GO:0030433	ER-associated ubiquitin-dependent protein catabolic process

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome