CIAO2A
protein-codingcytosolic iron-sulfur assembly component 2A, the group of Cytosolic iron-sulfur assembly components
Gene summary
Predicted to enable metal ion binding activity. Involved in iron-sulfur cluster assembly and protein maturation. Located in cytosol and nucleoplasm. Part of cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Jun 2026]
- FAM96A
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~21.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CIAO2A variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_032231.7. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 27 | 27 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 30 | 0 | 0 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_115607.1 | 5 | MANE Select | |
| Ensembl | ENSP00000300030.3 | 5 | MANE Select | |
| RefSeq | NP_001014812.1 | 3 | Standard | |
| RefSeq | NP_001276037.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- chromosome segregation
- iron-sulfur cluster assembly
- protein maturation by iron-sulfur cluster transfer
Molecular Function
- protein binding
- metal ion binding
Cellular Component
- nucleus
- nucleoplasm
- cytosol
- CIA complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000300030
- Coding exons
- 5
- Length
- 21460
- Individuals with no LoFs
- 125703
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 12
- Defined
- 125715
- p
- 0.0000477
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0169 | 85 | 85.4 | 0.995 | 0.00000442 | 1023 |
| Missense (PolyPhen) | 22 | 24.35 | 0.90348 | 304 | ||
| Synonymous | -0.891 | 40 | 33.4 | 1.20 | 0.00000168 | 315 |
| Loss of Function | 0.533 | 8 | 9.80 | 0.816 | 5.84e-7 | 112 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000060 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000072 | 0.000070 | rare |
| South Asian | 0.000036 | 0.000033 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation (PubMed:23891004). May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 (PubMed:25716227). {ECO:0000250, ECO:0000269|PubMed:23891004, ECO:0000269|PubMed:25716227}.;
Intolerance Scores
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 42.88
Essentials
- Essential (gene trap)
- N