IFT25

Chr 1

intraflagellar transport 25

Also known as: C1orf41, CFAP232, FAP232, HSPB11, HSPCO34, PP25

IFT25 encodes a component of intraciliary transport complex B that is required for sonic hedgehog signaling and mediates transport of signaling molecules within cilia. Mutations cause autosomal recessive ciliopathy with kidney developmental abnormalities and male infertility due to defective sperm flagella formation. The gene shows tolerance to loss-of-function variants, consistent with recessive inheritance patterns.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.35
Clinical SummaryIFT25
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.35LOEUF
pLI 0.002
Z-score 0.92
OE 0.64 (0.341.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.56Z-score
OE missense 0.82 (0.661.01)
61 obs / 74.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.64 (0.341.35)
00.351.4
Missense OE0.82 (0.661.01)
00.61.4
Synonymous OE1.16
01.21.6
LoF obs/exp: 5 / 7.8Missense obs/exp: 61 / 74.7Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IFT25 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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