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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CIAO2A
cytosolic iron-sulfur assembly component 2A
Chromosome 15 · 15q22.31
NCBI Gene: 84191Ensembl: ENSG00000166797.13HGNC: HGNC:26235UniProt: Q9H5X1
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolic [4Fe-4S] assembly targeting complexiron-sulfur cluster assemblyprotein maturationnucleoplasmgastric ulcerhemorrhageAbruptio PlacentaeIGA glomerulonephritis
✦AI Summary

CIAO2A (also known as FAM96A) is a component of the cytosolic iron-sulfur protein assembly (CIA) machinery that mediates the incorporation of iron-sulfur clusters into extramitochondrial Fe/S proteins 1. As part of the CIA complex, CIAO2A collaborates with CIAO1 to specifically mature aconitase (ACO1) and stabilize iron regulatory protein 2 (IREB2), thereby linking cytosolic iron-sulfur protein maturation with cellular iron regulation 1. The CIAO2A-CIAO1 complex can bind [4Fe-4S] clusters via cysteine residue 90 of CIAO2A and transfer these clusters to apo-IRP1 to generate active aconitase 2. Recent studies reveal CIAO2A can also recognize client proteins bearing C-terminal targeting complex recognition (TCR) motifs, suggesting a broader role in iron-sulfur protein maturation than previously appreciated 3. Beyond iron homeostasis, CIAO2A functions as a pro-apoptotic protein through interaction with APAF1 and serves as a tumor suppressor, with reduced expression observed in gastrointestinal stromal tumors 4. CIAO2A also regulates macrophage polarization and metabolic homeostasis, with deficiency promoting M2 macrophage polarization and protecting against sepsis 5. The protein plays critical roles in adipose tissue homeostasis and energy balance through regulation of mTOR signaling and mitochondrial function 6.

Sources cited
1
CIAO2A is a CIA complex component that matures ACO1 and stabilizes IREB2, connecting iron-sulfur protein maturation with iron regulation
PMID: 23891004
2
CIAO2A-CIAO1 complex binds [4Fe-4S] clusters via Cys90 and transfers clusters to apo-IRP1 to generate active aconitase
PMID: 29842905
3
CIAO2A can recognize client proteins with C-terminal TCR motifs, indicating broader role in iron-sulfur protein maturation
PMID: 40196589
4
CIAO2A functions as pro-apoptotic tumor suppressor through APAF1 interaction, with reduced expression in gastrointestinal stromal tumors
PMID: 25716227
5
CIAO2A deficiency promotes M2 macrophage polarization and protects against sepsis
PMID: 33232517
6
CIAO2A regulates adipose tissue homeostasis and energy balance through mTOR signaling and mitochondrial function
PMID: 36150559
Disease Associationsⓘ20
gastric ulcerOpen Targets
0.28Weak
hemorrhageOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.27Weak
IGA glomerulonephritisOpen Targets
0.14Weak
alcohol drinkingOpen Targets
0.11Weak
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.06Suggestive
macrothrombocytopenia, isolated, 2, autosomal dominantOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.05Suggestive
erythrocytosis, familial, 6Open Targets
0.05Suggestive
erythrocytosis, familial, 3Open Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
ThrombocytopeniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NFU1Shared pathway100%ISCA1Shared pathway100%ISCA2Shared pathway100%MMS19Protein interaction99%NUBP1Protein interaction99%CIAO3Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Heart
36%
Bone Marrow
25%
Lung
19%
Brain
17%
Ovary
10%
Gene Interaction Network
Click a node to explore
CIAO2ANFU1ISCA1ISCA2MMS19NUBP1CIAO3
PROTEIN STRUCTURE
Preparing viewer…
PDB3UX2 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.58 [0.34–1.05]
RankingsWhere CIAO2A stands among ~20K protein-coding genes
  • #12,124of 20,598
    Most Researched29
  • #10,570of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCIAO2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FAM96A is essential for maintaining organismal energy balance and adipose tissue homeostasis in mice.
PMID: 36150559
Free Radic Biol Med · 2022
1.00
2
The Cia1 and Cia2 subunits of the CTC mediate recognition of apo-FeS proteins with a C-terminal targeting complex recognition motif.
PMID: 40196589
bioRxiv · 2025
0.90
3
Fam96a is essential for the host control of Toxoplasma gondii infection by fine-tuning macrophage polarization via an iron-dependent mechanism.
PMID: 38713713
PLoS Negl Trop Dis · 2024
0.80
4
Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.
PMID: 23891004
Cell Metab · 2013
0.70
5
FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFβ1 signals.
PMID: 35513087
Life Sci · 2022
0.60