CIMIP2B

Chr 9

ciliary microtubule inner protein 2B

Also known as: FAM166B

The protein is a microtubule inner protein component of dynein-decorated doublet microtubules in cilia axonemes that is required for motile cilia beating. Mutations cause primary ciliary dyskinesia, which affects the respiratory tract, fertility, and can involve organ laterality defects. Primary ciliary dyskinesia follows autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt
LOEUF 1.75
Clinical SummaryCIMIP2B
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
1.75LOEUF
pLI 0.000
Z-score -0.45
OE 1.15 (0.741.75)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.04Z-score
OE missense 0.99 (0.861.14)
145 obs / 146.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.15 (0.741.75)
00.351.4
Missense OE0.99 (0.861.14)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 13 / 11.3Missense obs/exp: 145 / 146.3Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CIMIP2B · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found