CIAO2A

cytosolic iron-sulfur assembly component 2A, the group of Cytosolic iron-sulfur assembly components

Basic information

Region (hg38): 15:64072565-64094262

Previous symbols: [ "FAM96A" ]

Links

ENSG00000166797 ∙ NCBI:84191 ∙ OMIM:618382 ∙ HGNC:26235 ∙ Uniprot:Q9H5X1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CIAO2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIAO2A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in CIAO2A

This is a list of pathogenic ClinVar variants found in the CIAO2A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-64072950-C-T		not specified	Uncertain significance (Feb 13, 2025)
15-64072957-C-T		not specified	Uncertain significance (Dec 13, 2021)
15-64072962-A-G		not specified	Uncertain significance (Oct 26, 2022)
15-64072969-G-A		not specified	Uncertain significance (Mar 25, 2024)
15-64072995-G-A		not specified	Uncertain significance (Dec 29, 2024)
15-64081128-G-C		not specified	Uncertain significance (Mar 07, 2023)
15-64088714-G-A		not specified	Uncertain significance (Dec 20, 2023)
15-64088735-T-C		not specified	Uncertain significance (Dec 28, 2022)
15-64088788-G-A		not specified	Uncertain significance (Jan 17, 2025)
15-64088833-C-T		not specified	Uncertain significance (May 04, 2023)
15-64088834-G-A		not specified	Uncertain significance (Aug 22, 2023)
15-64088837-T-G		not specified	Uncertain significance (Feb 22, 2025)
15-64088839-G-C		not specified	Uncertain significance (Sep 20, 2023)
15-64088848-A-G		not specified	Uncertain significance (Jun 16, 2023)
15-64093722-A-C		not specified	Uncertain significance (Dec 28, 2022)
15-64093741-A-C		not specified	Uncertain significance (Jan 30, 2024)
15-64093746-A-G		not specified	Uncertain significance (May 09, 2023)
15-64093753-C-G		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIAO2A	protein_coding	protein_coding	ENST00000300030	5	21460

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000197	0.482	125703	0	12	125715	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0169	85	85.4	0.995	0.00000442	1023
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000598	0.0000598
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000723	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000358	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.294
• hipred: N
• hipred_score: 0.292
• ghis: 0.603

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ciao2a
• Phenotype: homeostasis/metabolism phenotype; skeleton phenotype; immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: chromosome segregation;iron-sulfur cluster assembly;protein maturation by iron-sulfur cluster transfer
• Cellular component: nucleus;nucleoplasm;cytosol;CIA complex
• Molecular function: protein binding;metal ion binding