CIAO2B

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

Basic information

Region (hg38): 16:66932065-66934423

Previous symbols: [ "FAM96B" ]

Links

ENSG00000166595 ∙ NCBI:51647 ∙ OMIM:614778 ∙ HGNC:24261 ∙ Uniprot:Q9Y3D0 ∙ 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 CIAO2B gene.

• not_specified (24 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIAO2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016062.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			24			24
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CIAO2B	protein_coding	protein_coding	ENST00000422424	5	2368

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00382	0.657	124607	0	6	124613	0.0000241

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.249	92	99.0	0.929	0.00000530	1034
Missense in Polyphen		18	29.876	0.6025		354
Synonymous	-0.575	42	37.5	1.12	0.00000179	334
Loss of Function	0.569	4	5.43	0.737	2.30e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000127	0.000123
Ashkenazi Jewish	0.000203	0.000199
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000932	0.00000885
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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, PubMed:22678362, PubMed:22678361). As a CIA complex component and in collaboration with CIAO1 and MMS19, binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins (PubMed:23891004). As part of the mitotic spindle- associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). {ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:22678361, ECO:0000269|PubMed:22678362, ECO:0000269|PubMed:23891004}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.242
• hipred: N
• hipred_score: 0.497
• ghis: 0.600

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Ciao2b

Gene ontology

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