Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
ERLIN2

ERLIN2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the ERLIN2 gene?

The official name of this gene is “ER lipid raft associated 2.”

ERLIN2 is the gene's official symbol. The ERLIN2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ERLIN2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the ERLIN2 gene related to health conditions?

Genetics Home Reference provides information about juvenile primary lateral sclerosis, which is associated with changes in the ERLIN2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the ERLIN2 gene's known or predicted involvement in human disease.

Spastic paraplegia 18, autosomal recessive (SPG18): 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the ERLIN2 gene.
  • Spastic paraplegia 18[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the ERLIN2 gene located?

Cytogenetic Location: 8p11.2

Molecular Location on chromosome 8: base pairs 37,736,226 to 37,757,800

The ERLIN2 gene is located on the short (p) arm of chromosome 8 at position 11.2.

The ERLIN2 gene is located on the short (p) arm of chromosome 8 at position 11.2.

More precisely, the ERLIN2 gene is located from base pair 37,736,226 to base pair 37,757,800 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ERLIN2?

You and your healthcare professional may find the following resources about ERLIN2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ERLIN2 gene or gene products?

  • C8orf2
  • Erlin-2
  • NET32
  • SPFH2
  • SPG18

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ERLIN2?

autosomal ; autosomal recessive ; degradation ; domain ; endoplasmic reticulum ; ER ; gene ; incontinence ; isoforms ; joint ; lipid ; mediating ; paraplegia ; progression ; protein ; psychomotor ; recessive ; spasticity ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 21, 2014