CIAO2A
Cytosolic Iron-Sulfur Assembly Component 2A
Gene Information Card
| Symbol | CIAO2A |
|---|---|
| Full Name | Cytosolic Iron-Sulfur Assembly Component 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 644815 ncbi.nlm.nih.gov/gene/644815 |
| Ensembl ID | ENSG00000137872 |
| UniProt ID | Q9H6K1 |
| OMIM ID | 618075 |
| HGNC ID | 26979 |
| Aliases | CIA2A, FAM96A, MIP18 |
Description
CIAO2A (Cytosolic Iron-Sulfur Assembly Component 2A) encodes a protein involved in the cytosolic iron-sulfur (Fe-S) cluster assembly pathway. It functions as part of the CIA targeting complex, facilitating the insertion of Fe-S clusters into cytosolic and nuclear apoproteins. This process is essential for DNA replication, repair, and ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial iron-sulfur cluster deficiency | Impaired Fe-S cluster assembly leads to cellular dysfunction | OMIM #618075 |
| Cancer (various) | Altered expression may affect genome stability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Liver | 8.9 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.1 | High expression |
| HeLa | 12.8 | Medium expression |
| K562 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg109* leads to premature truncation and loss of Fe-S cluster assembly activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • iron-sulfur cluster assembly (GO:0016226) | • cytosol (GO:0005829) |
| • CIA complex (GO:0032449) |
Pathways
• Cytosolic iron-sulfur cluster assembly (Reactome R-HSA-2564830)
Protein Summary
CIAO2A is a 154-amino acid protein that forms a heterodimeric complex with CIAO1 to target Fe-S clusters to specific apoproteins. It contains a conserved DUF59 domain and is localized primarily in the cytosol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIAO2A Knockout HEK293 Cell Line | EDJ-KQ941 | Human | 84191 | Details Get a Quote |
| CIAO2A Knockout A-549 Cell Line | EDJ-KQ19920 | Human | 84191 | Details Get a Quote |
| CIAO2A Knockout HCT 116 Cell Line | EDJ-KQ19921 | Human | 84191 | Details Get a Quote |
| CIAO2A Knockout HeLa Cell Line | EDJ-KQ19922 | Human | 84191 | Details Get a Quote |
