CISD2 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CISD2 |
| Official Name | CDGSH iron sulfur domain 2 [Source:HGNC Symbol;Acc:HGNC:24212] |
| Ensembl ID | ENSG00000145354 |
| Bio databases IDs | |
| Aliases | CDGSH iron sulfur domain 2, mitoNEET related 1, endoplasmic reticulum intermembrane small protein, nutrient-deprivation autophagy factor-1 |
| Synonyms | 1500009M05Rik, 1500026J14Rik, 1500031D15Rik, B630006A20Rik, CDGSH iron sulfur domain 2, CDGSH iron sulphur domain 2, ERIS, Miner1, NAF-1, Noxp70, RGD1566242, WFS2, ZCD2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CISD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- Iron-containing outer mitochondrial membrane protein N-terminus
- Iron-binding zinc finger CDGSH type
- protein homodimerization
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- growth failure
- blindness
- Wolfram syndrome type 2
- Wolfram syndrome
- premature aging
- neurodegeneration
- exophthalmos
- demyelination
role in cell
- binding in
- proliferation
- quantity
- degeneration
- function
- transmembrane potential
- abnormal morphology
- autophagy by
- accumulation in
- glycolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum mitochondria contact site
- perinuclear region
- Endoplasmic Reticulum
- Mitochondria
- reticular perinuclear compartment
- endoplasmic reticulum membrane
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CISD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- autophagy
- regulation of autophagy
- mitochondrion degradation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- perinuclear endoplasmic reticulum
- membrane
- macromolecular complex
- endoplasmic reticulum
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- protein homodimerization activity
- metal ion binding
- 2 iron, 2 sulfur cluster binding