CISD3 Gene - CDGSH Iron Sulfur Domain 3
A mitochondrial iron-sulfur cluster protein with emerging roles in cancer and metabolism
Gene Information Card
| Symbol | CISD3 |
|---|---|
| Full Name | CDGSH Iron Sulfur Domain 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 284106 ncbi.nlm.nih.gov/gene/284106 |
| Ensembl ID | ENSG00000186184 |
| UniProt ID | Q9Y3I0 |
| OMIM ID | 616322 |
| HGNC ID | 27585 |
| Aliases | Miner2, MitoNEET-like protein, CDGSH3 |
Description
CISD3 (CDGSH Iron Sulfur Domain 3) encodes a mitochondrial protein containing a CDGSH iron-sulfur domain. The protein binds a [2Fe-2S] cluster and is involved in mitochondrial iron homeostasis, redox regulation, and energy metabolism. CISD3 is a member of the NEET protein family, which includes CISD1 (mitoNEET) and CISD2. Emerging evidence implicates CISD3 in cancer cell proliferation and metabolic reprogramming.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | CISD3 overexpression promotes mitochondrial metabolism and tumor growth; knockdown reduces proliferation | PMID: 31239362 |
| Hepatocellular carcinoma | CISD3 upregulation correlates with poor prognosis; silencing induces apoptosis | PMID: 32467234 |
| Colorectal cancer | CISD3 supports oxidative phosphorylation and cell survival under stress | PMID: 33087233 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 7.1 | Low |
| Brain | 4.2 | Low |
| Skeletal muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| HeLa | 5.9 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown functional impact |
| c.412G>A (p.Gly138Ser) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.523_524insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to cause loss of function by truncating the protein and disrupting the iron-sulfur cluster binding domain.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CISD3 in the literature or curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CISD3.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • 2 iron (GO:0051537) |
| • cellular iron ion homeostasis (GO:0006879) | • metal ion binding (GO:0046872) |
| • response to oxidative stress (GO:0006979) |
Pathways
• Mitochondrial iron-sulfur cluster biogenesis
• Reactive oxygen species metabolism
• Oxidative phosphorylation
Protein Summary
CISD3 is a 135-amino acid mitochondrial protein with a single CDGSH domain that coordinates a [2Fe-2S] cluster. It localizes to the mitochondrial intermembrane space and is thought to regulate iron homeostasis and electron transfer. The protein shares structural homology with CISD1 and CISD2, but its specific physiological functions are less well understood. CISD3 expression is elevated in several cancers and may serve as a therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CISD3 Knockout HEK293 Cell Line | EDJ-KQ12926 | Human | 284106 | Details Get a Quote |
| CISD3 Knockout A-549 Cell Line | EDJ-KQ42134 | Human | 284106 | Details Get a Quote |
| CISD3 Knockout HeLa Cell Line | EDJ-KQ42136 | Human | 284106 | Details Get a Quote |
| CISD3 Knockout HCT 116 Cell Line | EDJ-KQ40884 | Human | 284106 | Details Get a Quote |
