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CISD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CISD2 gene

The CISD2 gene provides instructions for making a protein essential for mitochondrial function, and mutations in this gene are linked to Wolfram syndrome type 2.

Normal Function

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.

Health Conditions Related to Genetic Changes

Wolfram syndrome

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 glucose (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.

Other Names for This Gene

  • 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

Frequently Asked Questions

Currently there is no cure; management focuses on supportive care—tight glucose control, regular ophthalmology and audiology exams, and gastro‑protective medications. Some experimental approaches, such as antioxidants (e.g., coenzyme Q10) or agents that enhance mitochondrial biogenesis, are being studied, but they remain investigational and should only be used under specialist supervision.
In Wolfram syndrome type 2, diabetes often appears together with other red‑flag features such as optic nerve atrophy (vision loss), early‑onset hearing loss, recurrent gastrointestinal ulcers, and abnormal bleeding; a family history of similar multisystem problems also raises suspicion. Confirmatory genetic testing for CISD2 mutations is needed to differentiate it from isolated type 1 diabetes.
clinical laboratory can perform targeted sequencing of the CISD2 gene or a broader mitochondrial disease panel using DNA extracted from a blood sample (or saliva if blood is not feasible). The test looks for point mutations such as the common Glu37Gln (E37Q) change and can also detect deletions or larger rearrangements.
Patients should have scheduled assessments for vision (optic‑nerve imaging), hearing (audiograms), blood glucose, renal function, urinary tract health, and gastrointestinal integrity (endoscopy if ulcer symptoms arise). Because bleeding tendency can be exaggerated, coagulation profiles and platelet function may be checked before surgeries or after injuries.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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