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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CISD2
CDGSH iron sulfur domain 2
Chromosome 4 Β· 4q24
NCBI Gene: 493856Ensembl: ENSG00000145354.13HGNC: HGNC:24212UniProt: Q8N5K1
120PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexprotein bindingprotein homodimerization activity2 iron, 2 sulfur cluster bindingWolfram syndrome 2Wolfram syndromehearing lossatrial fibrillation
✦AI Summary

CISD2 (CDGSH iron sulfur domain 2) is a pro-longevity gene that plays a crucial role in cellular homeostasis and aging control 1. The protein localizes to the endoplasmic reticulum, mitochondrial outer membrane, and mitochondria-associated membranes, where it regulates cytosolic Ca2+ homeostasis, ER integrity, and mitochondrial function 1. CISD2 forms a ternary complex with IP3 receptors and anti-apoptotic BCL-2 proteins, counteracting BCL-2's inhibition of ER-mitochondrial calcium transfer by maintaining ER-mitochondrial contact sites 2. Functionally, CISD2 expression decreases with age in various tissues, and this decline correlates with mitochondrial breakdown and aging phenotypes 31. Genetic studies demonstrate that CISD2 deficiency shortens lifespan and accelerates aging in mice, while persistently high CISD2 levels promote longevity 1. CISD2 can be pharmaceutically activated by compounds like hesperetin, which enhances mitochondrial function and protects against oxidative stress in aged cells 4. Mutations in CISD2 cause Wolfram syndrome 2, an autosomal recessive disorder with metabolic and neurodegenerative manifestations 5. The gene has also been implicated in ADHD through Mendelian randomization studies 6, highlighting its broader neurological significance.

Sources cited
1
CISD2 is a pro-longevity gene that maintains cellular homeostasis and regulates cytosolic Ca2+ homeostasis, ER integrity, and mitochondrial function
PMID: 33422617
2
CISD2 forms complexes with IP3 receptors and BCL-2 proteins and counteracts BCL-2's inhibition of ER-mitochondrial calcium transfer
PMID: 39370046
3
CISD2 expression decreases with age and correlates with mitochondrial breakdown and aging phenotypes
PMID: 20649540
4
CISD2 can be pharmaceutically activated by hesperetin, enhancing mitochondrial function and protecting against oxidative stress
PMID: 38263133
5
Mutations in CISD2 cause Wolfram syndrome 2, an autosomal recessive disorder
PMID: 28432734
6
CISD2 has been implicated in ADHD through Mendelian randomization studies
PMID: 38876042
Disease Associationsβ“˜21
Wolfram syndrome 2Open Targets
0.73Strong
Wolfram syndromeOpen Targets
0.53Moderate
hearing lossOpen Targets
0.37Weak
atrial fibrillationOpen Targets
0.28Weak
genetic disorderOpen Targets
0.18Weak
migraine disorderOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
type 1 diabetes mellitusOpen Targets
0.12Weak
Back painOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
gliomaOpen Targets
0.09Suggestive
diffuse large B-cell lymphomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
cardiovascular diseaseOpen Targets
0.09Suggestive
hypertensionOpen Targets
0.09Suggestive
essential hypertensionOpen Targets
0.09Suggestive
smoking initiationOpen Targets
0.09Suggestive
Wolfram syndrome 2UniProt
Pathogenic Variants4
NM_001008388.5(CISD2):c.109G>T (p.Glu37Ter)Likely pathogenic
Wolfram syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 37
NM_001008388.5(CISD2):c.103+1G>APathogenic
Wolfram syndrome 2
β˜†β˜†β˜†β˜†2019
NM_001008388.4(CISD2):c.(104_304)-84_318+724delPathogenic
Wolfram syndrome 2
β˜†β˜†β˜†β˜†2014
NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)Pathogenic
Wolfram syndrome 2
β˜†β˜†β˜†β˜†2007β†’ Residue 37
View on ClinVar β†—
Related Genes
CISD3Protein interaction96%WFS1Protein interaction95%BECN1Protein interaction78%BCL2Protein interaction72%DEPP1Shared pathway50%RMC1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
87%
Bone Marrow
59%
Heart
27%
Lung
25%
Ovary
22%
Gene Interaction Network
Click a node to explore
CISD2CISD3WFS1BECN1BCL2DEPP1RMC1
PROTEIN STRUCTURE
Preparing viewer…
PDB4OOA Β· 1.58 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
0.97Intolerant
Observed/Expected LoF0.09 [0.03–0.44]
RankingsWhere CISD2 stands among ~20K protein-coding genes
  • #3,910of 20,598
    Most Researched120 Β· top quartile
  • #3,727of 5,498
    Most Pathogenic Variants4
  • #2,371of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedCISD2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Hesperetin activates CISD2 to attenuate senescence in human keratinocytes from an older person and rejuvenates naturally aged skin in mice.
PMID: 38263133
J Biomed Sci Β· 2024
1.00
2
CISD2 maintains cellular homeostasis.
PMID: 33422617
Biochim Biophys Acta Mol Cell Res Β· 2021
0.90
3
A role for the CISD2 gene in lifespan control and human disease.
PMID: 20649540
Ann N Y Acad Sci Β· 2010
0.80
4
Exercise and the Cisd2 Prolongevity Gene: Two Promising Strategies to Delay the Aging of Skeletal Muscle.
PMID: 33260577
Int J Mol Sci Β· 2020
0.70
5
Mendelian randomization analysis of the brain, cerebrospinal fluid, and plasma proteome identifies potential drug targets for attention deficit hyperactivity disorder.
PMID: 38876042
EBioMedicine Β· 2024
0.60