IFT46

Chr 11

intraflagellar transport 46

Also known as: C11orf2, C11orf60, CFAP32, FAP32

NCBI Gene: 56912ENSG00000118096UniProt: Q9NQC8

Predicted to be involved in cilium assembly; intraciliary transport; and protein stabilization. Predicted to act upstream of or within smoothened signaling pathway. Located in cytoplasm. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.54LOEUF
pLI 0.168
Z-score 3.02
OE 0.26 (0.13–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.67Z-score
OE missense 0.86 (0.76–0.98)
166 obs / 192.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.13–0.54)
0≤0.351.4
Missense OE?0.86 (0.76–0.98)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 5 / 19.3Missense obs/exp: 166 / 192.3Syn Z: 1.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IFT46 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients