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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CISD2

Reviewed April 2012

What is the official name of the CISD2 gene?

The official name of this gene is “CDGSH iron sulfur domain 2.”

CISD2 is the gene's official symbol. The CISD2 gene is also known by other names, listed below.

What is the normal function of the CISD2 gene?

The CISD2 gene provides instructions for making a protein that is found in the outer membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division. The exact function of the CISD2 protein is unknown, but it is thought to help keep mitochondria functioning normally.

How are changes in the CISD2 gene related to health conditions?

Wolfram syndrome - caused by mutations in the CISD2 gene

At least one mutation in the CISD2 gene has been found to cause Wolfram syndrome. This condition is characterized by a lack of insulin leading to increased blood sugar (diabetes mellitus), a degeneration of nerves that carry information from the eyes to the brain (optic atrophy), and a number of other features involving the urinary tract, the brain, and hearing. People with this CISD2 gene mutation also experience gastrointestinal ulcers and excessive bleeding after injury.

The CISD2 gene mutation that causes Wolfram syndrome replaces the amino acid glutamic acid with the amino acid glutamine at position 37 in the CISD2 protein (written as Glu37Gln or E37Q). This mutation results in an abnormally small, nonfunctional CISD2 protein. As a result, the function of the mitochondria is impaired and they eventually break down. Since the mitochondria provide energy to cells, the loss of mitochondria leads to decreased energy for cells. Cells that do not have enough energy to function will eventually die. Cells with high energy demands, such as nerve cells in the brain, eyes, or gastrointestinal tract, are most susceptible to cell death due to reduced energy. The gradual loss of cells in various body systems likely causes the signs and symptoms of Wolfram syndrome. When Wolfram syndrome is caused by CISD2 gene mutations, it is sometimes referred to as Wolfram syndrome type 2.

Where is the CISD2 gene located?

Cytogenetic Location: 4q24

Molecular Location on chromosome 4: base pairs 102,828,133 to 102,892,806

The CISD2 gene is located on the long (q) arm of chromosome 4 at position 24.

The CISD2 gene is located on the long (q) arm of chromosome 4 at position 24.

More precisely, the CISD2 gene is located from base pair 102,828,133 to base pair 102,892,806 on chromosome 4.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CISD2?

You and your healthcare professional may find the following resources about CISD2 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 CISD2 gene or gene products?

  • CDGSH iron-sulfur domain-containing protein 2
  • CISD2_HUMAN
  • endoplasmic reticulum intermembrane small protein
  • ERIS
  • Miner1
  • NAF-1
  • nutrient-deprivation autophagy factor-1
  • WFS2
  • ZCD2
  • zinc finger, CDGSH-type domain 2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CISD2?

amino acid ; atrophy ; autophagy ; cell ; diabetes ; diabetes mellitus ; domain ; endoplasmic reticulum ; gastrointestinal ; gene ; glutamic acid ; glutamine ; injury ; insulin ; iron ; mitochondria ; mutation ; optic atrophy ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20. (http://www.ncbi.nlm.nih.gov/pubmed/17846994?dopt=Abstract)
  • Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF. A role for the CISD2 gene in lifespan control and human disease. Ann N Y Acad Sci. 2010 Jul;1201:58-64. doi: 10.1111/j.1749-6632.2010.05619.x. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20649540?dopt=Abstract)
  • Kanki T, Klionsky DJ. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. Cell Res. 2009 Aug;19(8):922-3. doi: 10.1038/cr.2009.94. (http://www.ncbi.nlm.nih.gov/pubmed/19648948?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/493856)
  • OMIM: CDGSH IRON SULFUR DOMAIN PROTEIN 2 (http://omim.org/entry/611507)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2012
Published: August 18, 2014