CISD2 Chromosome 4
CDGSH iron sulfur domain 2
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What This Gene Does
The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
CDGSH iron sulfur domain containing
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000145354
Associated Conditions (2)
CISD2-related disorder
Wolfram syndrome 2
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145312923 | Health Risk | Conflicting classifications of pathogenicity | CISD2-related disorder, CISD2-related disorder |
| RS1578307302 | Health Risk | Pathogenic | Wolfram syndrome 2, Wolfram syndrome 2 |
| RS63749888 | Health Risk | Pathogenic | Wolfram syndrome 2, Wolfram syndrome 2 |