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

ENSG00000166595NCBI:51647OMIM:614778HGNC:24261Uniprot:Q9Y3D0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CIAO2B gene.

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.

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
1
clinvar
1
missense
10
clinvar
10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 1 0

Variants in CIAO2B

This is a list of pathogenic ClinVar variants found in the CIAO2B region.

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

Position Type Phenotype Significance ClinVar
16-66932210-C-T not specified Uncertain significance (Dec 30, 2024)3833375
16-66932217-A-T not specified Uncertain significance (Aug 20, 2024)3492847
16-66932294-T-C not specified Uncertain significance (Nov 22, 2022)3144878
16-66932789-C-G not specified Uncertain significance (Jan 01, 2025)3833377
16-66932820-G-A Likely benign (Jul 01, 2022)2646606
16-66933651-T-C not specified Uncertain significance (Jan 09, 2025)3833374
16-66933691-G-C not specified Uncertain significance (May 09, 2024)3267304
16-66934042-G-C not specified Uncertain significance (Mar 01, 2023)3144876
16-66934252-G-A not specified Uncertain significance (Sep 12, 2023)2622253
16-66934267-T-C not specified Uncertain significance (Feb 27, 2023)2489705
16-66934310-T-C not specified Uncertain significance (Mar 11, 2022)3144879
16-66934333-A-C not specified Uncertain significance (Apr 06, 2024)3267302
16-66934334-G-A not specified Uncertain significance (Oct 03, 2022)3144877
16-66934352-C-T not specified Uncertain significance (Oct 05, 2022)3144875
16-66934361-C-G not specified Uncertain significance (Jan 23, 2025)3833376

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CIAO2Bprotein_codingprotein_codingENST00000422424 52368
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.003820.657124607061246130.0000241
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2499299.00.9290.000005301034
Missense in Polyphen1829.8760.6025354
Synonymous-0.5754237.51.120.00000179334
Loss of Function0.56945.430.7372.30e-765

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001270.000123
Ashkenazi Jewish0.0002030.000199
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000009320.00000885
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

loftool
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_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
E
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Ciao2b
Phenotype

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